[ { "uniprot_canonical_ac": "P07320-1", "uniprot_id": [ { "id": "CRGD_HUMAN", "url": "https://www.uniprot.org/uniprot/P07320", "type": "external" } ], "mass": 20738.0, "length": 174, "protein_name": "Gamma-crystallin D", "gene_name": "CRYGD", "organism": "Human", "refseq_name": "gamma-crystallin D", "refseq_ac": [ { "id": "NP_008822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822", "type": "external" } ], "gene_names_uniprotkb": "CRYGD; CRYG4", "gene_names_refseq": "CACA; CCA3; CCP; CRYG4; CRYGD; CTRCT4; PCC; cry-g-D", "protein_names_uniprotkb": "Gamma-crystallin D; Gamma-D-crystallin; Gamma-crystallin 4", "protein_names_refseq": "gamma crystallin 4; gamma-D-crystallin; gamma-crystallin D", "tax_id": 9606, "disease": "mevalonic aciduria (Disease Ontology:DOID:0050452); inflammatory bowel disease (Disease Ontology:DOID:0050589); obstructive sleep apnea (Disease Ontology:DOID:0050848); renal fibrosis (Disease Ontology:DOID:0050855); non-arteritic anterior ischemic optic neuropathy (Disease Ontology:DOID:0050864); atrial fibrillation (Disease Ontology:DOID:0060224); mastoiditis (Disease Ontology:DOID:0060322); overactive bladder syndrome (Disease Ontology:DOID:0070355); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); lupus nephritis (Disease Ontology:DOID:0080162); COVID-19 (Disease Ontology:DOID:0080600); cataract 4 multiple types (Disease Ontology:DOID:0110234); cataract 2 multiple types (Disease Ontology:DOID:0110235); cataract 7 (Disease Ontology:DOID:0110260); pelvic inflammatory disease (Disease Ontology:DOID:1003); bacterial infectious disease (Disease Ontology:DOID:104); interstitial nephritis (Disease Ontology:DOID:1063); renal hypertension (Disease Ontology:DOID:1073); kidney failure (Disease Ontology:DOID:1074); otitis media (Disease Ontology:DOID:10754); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); heart disease (Disease Ontology:DOID:114); pyelonephritis (Disease Ontology:DOID:11400); hypertensive retinopathy (Disease Ontology:DOID:11561); familial hyperlipidemia (Disease Ontology:DOID:1168); iron deficiency anemia (Disease Ontology:DOID:11758); vestibular neuronitis (Disease Ontology:DOID:12683); cardiovascular system disease (Disease Ontology:DOID:1287); Sjogren's syndrome (Disease Ontology:DOID:12894); Behcet's disease (Disease Ontology:DOID:13241); Mycoplasma pneumoniae pneumonia (Disease Ontology:DOID:13276); temporal arteritis (Disease Ontology:DOID:13375); Kawasaki disease (Disease Ontology:DOID:13378); pulmonary sarcoidosis (Disease Ontology:DOID:13406); low tension glaucoma (Disease Ontology:DOID:13544); aspergillosis (Disease Ontology:DOID:13564); pharyngoconjunctival fever (Disease Ontology:DOID:13801); interstitial cystitis (Disease Ontology:DOID:13949); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); Parkinson's disease (Disease Ontology:DOID:14330); aggressive periodontitis (Disease Ontology:DOID:1474); urticaria (Disease Ontology:DOID:1555); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); retinal vein occlusion (Disease Ontology:DOID:1727); status epilepticus (Disease Ontology:DOID:1824); atherosclerosis (Disease Ontology:DOID:1936); anxiety disorder (Disease Ontology:DOID:2030); colon cancer (Disease Ontology:DOID:219); opiate dependence (Disease Ontology:DOID:2559); asthma (Disease Ontology:DOID:2841); bronchiolitis (Disease Ontology:DOID:2942); pulmonary tuberculosis (Disease Ontology:DOID:2957); antiphospholipid syndrome (Disease Ontology:DOID:2988); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); breast carcinoma (Disease Ontology:DOID:3459); middle cerebral artery infarction (Disease Ontology:DOID:3525); mouth disease (Disease Ontology:DOID:403); macular degeneration (Disease Ontology:DOID:4448); renal cell carcinoma (Disease Ontology:DOID:4450); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); pneumonia (Disease Ontology:DOID:552); myocardial infarction (Disease Ontology:DOID:5844); uveal melanoma (Disease Ontology:DOID:6039); acute stress disorder (Disease Ontology:DOID:6088); lymphopenia (Disease Ontology:DOID:614); pulmonary hypertension (Disease Ontology:DOID:6432); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); ankylosing spondylitis (Disease Ontology:DOID:7147); rheumatoid arthritis (Disease Ontology:DOID:7148); abdominal aortic aneurysm (Disease Ontology:DOID:7693); end stage renal disease (Disease Ontology:DOID:783); cataract (Disease Ontology:DOID:83); arthritis (Disease Ontology:DOID:848); polymyalgia rheumatica (Disease Ontology:DOID:853); Crohn's disease (Disease Ontology:DOID:8778); intermediate coronary syndrome (Disease Ontology:DOID:8805); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 2 diabetes mellitus (Disease Ontology:DOID:9352); otitis externa (Disease Ontology:DOID:9463); bacterial meningitis (Disease Ontology:DOID:9470); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1421)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10521291;10688888;10915766;11371638;12011157;12507494;12676897;12729747;15709761;16943771;17564961;18587492;19390652;21031598;21866213;29557506;29914532;31154438;31523120;33243271;35163513;35580925;37480084;37739288;38685567;39084439;4033658;8943244;8999933;9927684", "class_list": "", "function": "Cataract-causing mutations S78F and S78P of gammaD-crystallin decrease protein conformational stability and drive aggregation., [RefSeq, PubMed]; Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene. Publication Status: Online-Only, [RefSeq, PubMed]; Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]., [RefSeq]; Crystallins are the dominant structural components of the vertebrate eye lens., [UniProtKB]; Effect of Pressure on the Conformational Landscape of Human gammaD-Crystallin from Replica Exchange Molecular Dynamics Simulations., [RefSeq, PubMed]; Insights to Human gammaD-Crystallin Unfolding by NMR Spectroscopy and Molecular Dynamics Simulations. Publication Status: Online-Only, [RefSeq, PubMed]; Truncation mutations of CRYGD gene in congenital cataracts cause protein aggregation by disrupting the structural stability of gammaD-crystallin., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 89, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q17RF7;Q53R51;Q99681", "ec_number_list": [], "go_molecular_function": "GO:0005212 structural constituent of eye lens", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007601 visual perception;GO:0034614 cellular response to reactive oxygen species;GO:0002088 lens development in camera-type eye;GO:0070306 lens fiber cell differentiation", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "P07320-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09669-1", "uniprot_id": [ { "id": "COX6C_HUMAN", "url": "https://www.uniprot.org/uniprot/P09669", "type": "external" } ], "mass": 8781.0, "length": 75, "protein_name": "Cytochrome c oxidase subunit 6C", "gene_name": "COX6C", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 6C", "refseq_ac": [ { "id": "NP_004365", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004365", "type": "external" } ], "gene_names_uniprotkb": "COX6C", "gene_names_refseq": "COX6C", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 6C; Cytochrome c oxidase polypeptide VIc", "protein_names_refseq": "cytochrome c oxidase polypeptide VIc; cytochrome c oxidase subunit 6C; cytochrome c oxidase subunit VIc preprotein; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762)", "pathway": " (hsa:1345); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9864848)", "pathway_count": 5, "publication_count": 186, "publication_id_list": "10072584;10327278;10329961;10716435;10745013;10980602;11029283;11034341;11340051;11486029;11545734;11695836;11875071;11959846;12042320;12161445;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12969439;1327877;13298683;13538944;14651849;14741580;15104674;15105503;15223;15250827;15589136;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17264172;17298220;17308301;17486094;17540029;18198340;18344994;186667;18692468;19113821;19439913;19487573;19503089;19690164;19822145;19892738;19968714;20080666;20112406;20182617;20351271;20378837;20929863;21750704;21958598;22342701;22363791;22427940;22645359;23125284;23150584;23260140;23270816;23345593;23564345;23746447;23747254;23775793;239860;24066844;24366874;24383451;24403053;24714562;24715725;24718924;25418920;25469497;25564869;25576301;25579166;25645385;25880248;25892735;25926683;25959673;26154972;26321642;26375851;26652033;26728094;26929215;26992070;27397612;27600516;27693358;27846572;27862975;27893789;27920218;28063628;28082314;28199844;28218747;28228285;28330871;2849755;28698372;28832583;28834231;28844695;28904123;29154948;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;30030519;30315122;30410026;30429286;30484775;30779550;31154438;31536960;31611695;31844290;31848261;31998317;32157095;32265295;32317297;32375044;32387766;32488085;32897882;33298915;33392160;33592498;33717175;33912179;33936100;3427020;34561969;3475708;34932366;34969438;35051231;35154160;35318648;35580925;35750769;36215666;36241641;36284347;37938771;38242874;4288886;5666113;6094553;7979252;7989588;8119488;9843204;9878551;9926927", "class_list": "", "function": "COX6C expression driven by copy amplification of 8q22.2 regulates cell proliferation via mediation of mitosis by ROS-AMPK signaling in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix., [UniProtKB, UniProtKB]; Cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12. [provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4D7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0031966 mitochondrial membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "P09669-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C2W7-1", "uniprot_id": [ { "id": "CT47B_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C2W7", "type": "external" } ], "mass": 31319.0, "length": 299, "protein_name": "Cancer/testis antigen family 47 member B1", "gene_name": "CT47B1", "organism": "Human", "refseq_name": "cancer/testis antigen family 47 member B1", "refseq_ac": [ { "id": "NP_001139190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139190", "type": "external" } ], "gene_names_uniprotkb": "CT47B1; CT47.13", "gene_names_refseq": "CT47.13; CT47A13; CT47B1", "protein_names_uniprotkb": "Cancer/testis antigen family 47 member B1; CT47.13; Cancer/testis antigen 47.13", "protein_names_refseq": "cancer/testis CT47 family, member 13; cancer/testis antigen 47.13; cancer/testis antigen 47B; cancer/testis antigen family 147, member B1; cancer/testis antigen family 47 member B1", "tax_id": 9606, "disease": "", "pathway": " (hsa:643311)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "16382448;23092983", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NM97", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0C2W7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DMU8-1", "uniprot_id": [ { "id": "CT455_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DMU8", "type": "external" } ], "mass": 21232.0, "length": 189, "protein_name": "Cancer/testis antigen family 45 member A5", "gene_name": "CT45A5", "organism": "Human", "refseq_name": "cancer/testis antigen family 45 member A5", "refseq_ac": [ { "id": "NP_001007552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007552", "type": "external" } ], "gene_names_uniprotkb": "CT45A5; CT45-5", "gene_names_refseq": "CT45.5; CT455; CT45A5", "protein_names_uniprotkb": "Cancer/testis antigen family 45 member A5; Cancer/testis antigen 45-5; Cancer/testis antigen 45A5", "protein_names_refseq": "cancer/testis antigen family 45 member A5", "tax_id": 9606, "disease": "", "pathway": " (hsa:101060211); (hsa:102723631); (hsa:441521); (hsa:541465)", "pathway_count": 4, "publication_count": 2, "publication_id_list": "15905330;31429579", "class_list": "", "function": "This gene represents one of a cluster of several similar genes located on the q arm of chromosome X. The genes in this cluster encode members of the cancer/testis (CT) family of antigens, and are distinct from other CT antigens. These antigens are thought to be novel therapeutic targets for human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K842;B7ZMC5;Q6NSH3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0DMU8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11844-1", "uniprot_id": [ { "id": "CRGA_HUMAN", "url": "https://www.uniprot.org/uniprot/P11844", "type": "external" } ], "mass": 20877.0, "length": 174, "protein_name": "Gamma-crystallin A", "gene_name": "CRYGA", "organism": "Human", "refseq_name": "gamma-crystallin A", "refseq_ac": [ { "id": "NP_055432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432", "type": "external" } ], "gene_names_uniprotkb": "CRYGA; CRYG1", "gene_names_refseq": "CRY-g-A; CRYG1; CRYG5; CRYGA", "protein_names_uniprotkb": "Gamma-crystallin A; Gamma-A-crystallin; Gamma-crystallin 5", "protein_names_refseq": "crystallin, gamma 1; gamma-crystallin 5; gamma-crystallin A", "tax_id": 9606, "disease": "cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:1418)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "12011157;12507494;19384013;19463898;28839118;33243271;34826455;35494241;35513103;3670288", "class_list": "", "function": "A novel cataract-causing mutation Ile82Met of gammaA crystallin trends to aggregate with unfolding intermediate., [RefSeq, PubMed]; Cataract-causing mutation R48C increases gammaA-crystallin susceptibility to oxidative stress and ultraviolet radiation., [RefSeq, PubMed]; Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]., [RefSeq]; Crystallins are the dominant structural components of the vertebrate eye lens., [UniProtKB]; Studies show that The major proteins in the lens--alpha, beta, and gamma-crystallins--are constantly subjected to age-related changes. Review article, [RefSeq, PubMed]; This study establishes baseline frequency data for four SNPs in CRYGA and CRYGB genes for future case control studies on the role of these SNPs in the genetic basis of cataract. GeneRIF: Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53ST5", "ec_number_list": [], "go_molecular_function": "GO:0005212 structural constituent of eye lens", "go_cellular_component": "", "go_biological_process": "GO:0007601 visual perception;GO:0002088 lens development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "P11844-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24311-1", "uniprot_id": [ { "id": "COX7B_HUMAN", "url": "https://www.uniprot.org/uniprot/P24311", "type": "external" } ], "mass": 9161.0, "length": 80, "protein_name": "Cytochrome c oxidase subunit 7B, mitochondrial", "gene_name": "COX7B", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 7B, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001857", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001857", "type": "external" } ], "gene_names_uniprotkb": "COX7B", "gene_names_refseq": "APLCC; COX7B; LSDMCA2", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 7B, mitochondrial; Cytochrome c oxidase polypeptide VIIb", "protein_names_refseq": "cytochrome c oxidase polypeptide VIIb; cytochrome c oxidase subunit 7B, mitochondrial precursor; cytochrome c oxidase subunit 7B, mitochondrial; cytochrome c oxidase subunit VIIb; cytochrome-c oxidase chain VIIb", "tax_id": 9606, "disease": "linear skin defects with multiple congenital anomalies 2 (Disease Ontology:DOID:0111877); prostate cancer (Disease Ontology:DOID:10283); breast cancer (Disease Ontology:DOID:1612); ovary epithelial cancer (Disease Ontology:DOID:2152); prostate adenocarcinoma (Disease Ontology:DOID:2526); endometrial carcinoma (Disease Ontology:DOID:2871); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); in situ carcinoma (Disease Ontology:DOID:8719)", "pathway": " (hsa:1349); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9864848)", "pathway_count": 5, "publication_count": 153, "publication_id_list": "10327278;10329961;10716435;10745013;10980602;11029283;11034341;11237011;11340051;11486029;11545734;11695836;11959846;12161445;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12969439;1309697;1327877;13298683;13538944;14651849;14741580;15105503;15223;15250827;15589136;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17264172;17298220;17486094;17540029;18198340;18344994;18446792;186667;18692468;19113821;19439913;19487573;19503089;19690164;19822145;19968714;20080666;20112406;20182617;20351271;20378837;20929863;21750704;21958598;22342701;22363791;22427940;23122588;23125284;23150584;23260140;23270816;23345593;23564345;23746447;23747254;23775793;239860;24066844;24366874;24383451;24403053;24715725;24718924;25502872;25564869;25576301;25579166;25926683;25959673;26321642;26652033;26992070;27452731;27693358;28082314;28199844;28218747;28228285;28330871;28514659;28698372;28834231;28844695;28904123;29154948;29242379;29393594;29437277;29557506;29632046;29786170;29789417;30030519;30315122;30367559;30410026;30833945;31217245;31536960;31611695;31844290;32157095;32161166;32265295;32317297;32357974;32375044;32488085;33298915;33392160;33592498;33912179;33968037;34171305;3427020;34561969;3475708;34969438;35750769;36010968;4288886;5666113;6094553;7979252;7989588;8119488;8382530;9843204;9878551;9926927", "class_list": "", "function": "Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix (By similarity). Plays a role in proper central nervous system (CNS) development in vertebrates (PubMed:23122588)., [UniProtKB, PubMed, UniProtKB]; Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]., [RefSeq]; Our results offer a new transcriptome landscape of platinum-resistance that provides valuable insights into chemosensitivity and drug resistance in cancers, and we identify a novel platinum resistance gene, COX7B, and a surrogate marker, CD63., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4M3;Q6ICR1", "ec_number_list": [], "go_molecular_function": "GO:0004129 cytochrome-c oxidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0007417 central nervous system development;GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "P24311-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54107-1", "uniprot_id": [ { "id": "CRIS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P54107", "type": "external" } ], "mass": 28481.0, "length": 249, "protein_name": "Cysteine-rich secretory protein 1", "gene_name": "CRISP1", "organism": "Human", "refseq_name": "cysteine-rich secretory protein 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122", "type": "external" } ], "gene_names_uniprotkb": "CRISP1; AEGL1", "gene_names_refseq": "AEGL1; ARP; CRISP-1; CRISP1; HEL-S-57; HSCRISP1D; HSCRISP1G; HUMARP", "protein_names_uniprotkb": "Cysteine-rich secretory protein 1; AEG-like protein; ARP; Acidic epididymal glycoprotein homolog; CRISP-1", "protein_names_refseq": "AEG-like protein; AEG-related protein; acidic epididymal glycoprotein homolog; acidic epididymal glycoprotein-like 1; cysteine-rich secretory protein 1 isoform 1 precursor; cysteine-rich secretory protein-1 delta; epididymis secretory protein Li 57", "tax_id": 9606, "disease": "", "pathway": " (hsa:167)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "19054851;20378925;23987519;24334245;33750840;8543280;8665901;8838800", "class_list": "", "function": "CRISP1 was in the seminal plasma of normal and vasovasostomized men, but not in that of vasectomized men. The soluble concentration of CRISP1 was significantly higher in the seminal plasma of vasovasostomized men as compared with that from normal men., [RefSeq, PubMed]; Epididymal CRISP1 mediates sperm-zona pellucida binding through its interaction with ZP3., [RefSeq, PubMed]; Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head, where it plays a role in sperm-egg fusion. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]., [RefSeq]; May have a role in sperm-egg fusion and maturation., [UniProtKB]; Seminal CRISP1 combined with neutral alpha glucosidase activity can potentially distinguish between obstructive and nonobstructive azoospermia., [RefSeq, PubMed]; The less conserved metal-binding site in human CRISP1 remains sensitive to zinc ions to permit protein oligomerization. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B5BU98;O00698;Q13248;Q14082;Q96SF6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus", "go_biological_process": "GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "P54107-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57773-1", "uniprot_id": [ { "id": "CXA9_HUMAN", "url": "https://www.uniprot.org/uniprot/P57773", "type": "external" } ], "mass": 58842.0, "length": 515, "protein_name": "Gap junction alpha-9 protein", "gene_name": "GJA9", "organism": "Human", "refseq_name": "gap junction alpha-9 protein", "refseq_ac": [ { "id": "NP_110399", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110399", "type": "external" } ], "gene_names_uniprotkb": "GJA9; GJA10", "gene_names_refseq": "CX58; CX59; GJA10; GJA9", "protein_names_uniprotkb": "Gap junction alpha-9 protein; Connexin-58; Connexin-59; Cx58; Cx59; Gap junction alpha-10 protein", "protein_names_refseq": "connexin 59; connexin-58; gap junction alpha 10; gap junction alpha-9 protein; gap junction protein, alpha 9, 59kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:81025); (R-HSA-190861)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "10191254;12881038;15536180;17200141;1850831;29557506;33392160;35051231;7929580", "class_list": "", "function": "Connexins, such as GJA9, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]., [RefSeq]; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R722;B3KVQ2;Q5TA63;Q96KG0", "ec_number_list": [], "go_molecular_function": "GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P57773-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16619-1", "uniprot_id": [ { "id": "CTF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16619", "type": "external" } ], "mass": 21227.0, "length": 201, "protein_name": "Cardiotrophin-1", "gene_name": "CTF1", "organism": "Human", "refseq_name": "cardiotrophin-1 isoform 2", "refseq_ac": [ { "id": "NP_001136016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136016", "type": "external" } ], "gene_names_uniprotkb": "CTF1", "gene_names_refseq": "CT-1; CT1; CTF1", "protein_names_uniprotkb": "Cardiotrophin-1; CT-1", "protein_names_refseq": "cardiophin 1; cardiotrophin-1 isoform 2", "tax_id": 9606, "disease": "abdominal obesity-metabolic syndrome (Disease Ontology:DOID:0060611); hypertension (Disease Ontology:DOID:10763); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930); glucose metabolism disease (Disease Ontology:DOID:4194); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:1489); (R-HSA-6788467)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10586060;10812968;10966616;11058912;11834704;11943154;12601009;12707266;12811586;15339391;15450249;15519241;16051226;19920145;21715184;2779549;29393594;30429286;33713510;34509645;35051231;35722965;36768925;37369375;7670098;7738033;7852997;7862649;7957045;8119965;8272873;8390097;8627290;8637716;8833032;9238703", "class_list": "", "function": "A quantitative detection of Cardiotrophin-1 in chronic heart failure by chemiluminescence immunoassay., [RefSeq, PubMed]; Functions as a cytokine that binds to the LIF receptor complex (PubMed:8833032). The LIF receptor complex indeed consists of two signaling receptor subunits IL6ST/gp130 and LIFR that transduce the signal into the cell (By similarity). Functionnally, acts as a potent cardiac survival factor, and promotes cardiomyocyte proliferation and hypertrophy (PubMed:8833032). Mechanistically, ligand binding to LIFR, induces heterodimerization with IL6ST/gp130 activating JAK tyrosine kinases (JAK1 or JAK2 and to a lesser extent TYK2) bound to their intracellular domains (By similarity). These kinases subsequently phosphorylate IL6ST/gp130 and LIFR (By similarity). The tyrosine phosphorylated signaling receptors serve in turn as docking sites for recruitment and activation of signal transducer and activator of transcription STAT3 (By similarity)., [UniProtKB, PubMed, UniProtKB]; Investigation of maternal serum cardiotrophin-1 concentrations in pregnant women with preeclampsia; a prospective case-control study., [RefSeq, PubMed]; Osteoprotegerin, Chitinase 3-like Protein 1, and Cardiotrophin-1 as Potential Biomarkers of Obstructive Sleep Apnea in Adults-A Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a secreted cytokine that induces cardiac myocyte hypertrophy in vitro. It has been shown to bind and activate the ILST/gp130 receoptor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]., [RefSeq]; Tumor-derived CTF1 (cardiotrophin 1) is a critical mediator of stroma-assisted and autophagy-dependent breast cancer cell migration, invasion and metastasis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MVX4;Q5U5Y7", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0005146 leukemia inhibitory factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0007399 nervous system development;GO:0008284 positive regulation of cell population proliferation;GO:0007517 muscle organ development;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q16619-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4LDR2-1", "uniprot_id": [ { "id": "CTXN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4LDR2", "type": "external" } ], "mass": 8933.0, "length": 81, "protein_name": "Cortexin-3", "gene_name": "CTXN3", "organism": "Human", "refseq_name": "cortexin-3", "refseq_ac": [ { "id": "NP_001041717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041717", "type": "external" } ], "gene_names_uniprotkb": "CTXN3; KABE", "gene_names_refseq": "CTXN3; KABE", "protein_names_uniprotkb": "Cortexin-3; Kidney and brain-expressed protein", "protein_names_refseq": "cortexin-3; kidney and brain-expressed protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:613212)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "17786280;19023125;22643131;25889058", "class_list": "", "function": "Altered expression of cortexin 3, either alone, or in parallel with changes in disrupted-in-schizophrenia 1, could subtly perturb GABAergic neurotransmission Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Selective expression of CTXN3 in the kidney and brain, the amino acid identity to cortexin, and its high conservation among different species indicate that CTXN3 may be involved in a process specifically restricted to kidney and brain tissue function., [RefSeq, PubMed]; Two single nucleotide polymophisms of the CTXN3 and SLC12A2 genes are associated with risk of schizophrenia in a Thai population. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RV32;D3DQ82", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q4LDR2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6YFQ2-1", "uniprot_id": [ { "id": "CX6B2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6YFQ2", "type": "external" } ], "mass": 10529.0, "length": 88, "protein_name": "Cytochrome c oxidase subunit 6B2", "gene_name": "COX6B2", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 6B2", "refseq_ac": [ { "id": "NP_653214", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653214", "type": "external" } ], "gene_names_uniprotkb": "COX6B2", "gene_names_refseq": "COX6B2; COXVIB2; CT59", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 6B2; COX VIb-2; CT59; Cancer/testis antigen 59; Cytochrome c oxidase subunit VIb isoform 2; Cytochrome c oxidase subunit VIb, testis-specific isoform", "protein_names_refseq": "COX VIb-2; cancer/testis antigen 59; cytochrome c oxidase subunit 6B2; cytochrome c oxidase subunit VIb polypeptide 2 (testis); cytochrome c oxidase subunit VIb, testes-specific", "tax_id": 9606, "disease": "hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); mitochondrial encephalomyopathy (Disease Ontology:DOID:890)", "pathway": " (hsa:125965); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9864848)", "pathway_count": 5, "publication_count": 113, "publication_id_list": "10327278;10329961;10716435;10745013;10980602;11029283;11034341;11340051;11486029;11545734;11695836;11959846;12161445;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12874793;12906785;12969439;1327877;13298683;13538944;14651849;14741580;15105503;15223;15250827;15589136;15905330;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17264172;17298220;17486094;17540029;18198340;18344994;18452278;186667;18692468;19113821;19439913;19487573;19503089;19690164;19822145;19968714;20080666;20182617;20351271;20378837;20929863;21750704;21958598;22342701;22363791;22427940;23125284;23150584;23260140;23270816;23345593;23564345;23746447;23747254;23775793;239860;24066844;24366874;24383451;24403053;24718924;25564869;25579166;25926683;25959673;26321642;26652033;27693358;28082314;28199844;28330871;28698372;29154948;31536960;32317297;32375044;32990599;3427020;3475708;34969438;35750769;38501414;4288886;5666113;6094553;7979252;7989588;8119488;9843204;9878551;9926927", "class_list": "", "function": "Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix., [UniProtKB, UniProtKB]; Sperm-specific COX6B2 enhances oxidative phosphorylation, proliferation, and survival in human lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; [High expression of COX6B2 in gastric cancer is associated with poor long-term prognosis and promotes cell proliferation and cell cycle progression by inhibiting p53 signaling]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7L1R4;Q96DL5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045277 respiratory chain complex IV;GO:0030061 mitochondrial crista", "go_biological_process": "GO:0006119 oxidative phosphorylation", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q6YFQ2-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7KZN9-1", "uniprot_id": [ { "id": "COX15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7KZN9", "type": "external" } ], "mass": 46030.0, "length": 410, "protein_name": "Heme A synthase COX15", "gene_name": "COX15", "organism": "Human", "refseq_name": "heme A synthase COX15 isoform 9", "refseq_ac": [ { "id": "NP_001307903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903", "type": "external" } ], "gene_names_uniprotkb": "COX15", "gene_names_refseq": "CEMCOX2; COX15; HAS; MC4DN6", "protein_names_uniprotkb": "Heme A synthase COX15; 1.17.99.9; Cytochrome c oxidase assembly protein COX15 homolog; HAS", "protein_names_refseq": "COX15 homolog, cytochrome c oxidase assembly protein; COX15, cytochrome c oxidase assembly homolog; cytochrome c oxidase assembly homolog 15; cytochrome c oxidase assembly homolog COX15; cytochrome c oxidase assembly protein COX15 homolog; cytochrome c oxidase subunit 15; heme A synthase COX15 isoform 9; heme A synthase COX15", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 6 (Disease Ontology:DOID:0080358); heart conduction disease (Disease Ontology:DOID:10273); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); ovarian dysfunction (Disease Ontology:DOID:1414); renovascular hypertension (Disease Ontology:DOID:1591); epilepsy (Disease Ontology:DOID:1826); Leigh disease (Disease Ontology:DOID:3652); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:1355); (R-HSA-189451); (R-HSA-9864848)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10706561;11032836;11032841;11175906;12474143;12773194;14978097;15235026;15863660;16121195;16176984;16258391;1939222;19503089;20705604;21412973;22342701;23125284;23260140;23345593;23467411;23746447;24397554;24403053;24714562;24715725;25418920;25576301;25802875;25892735;25926683;25959673;26154972;26321642;26811146;26929215;26940873;26992070;27600516;27693358;27846572;27920218;28082314;28199844;28218747;28228285;28330871;28510447;28832583;28834231;28904123;29154948;29242379;29331515;29393594;29437277;29508533;29557506;29632046;29769354;29786170;30315122;30429286;30524438;30779550;30833945;31154438;31217245;31536960;31844290;32157095;32232962;32265295;32317297;32357974;32375044;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33717175;33912179;33968037;34087483;34171305;34357683;34405274;34547626;34561969;34932366;34969438;35051231;35580925;35750769;36010968;36241641;36284347;36581221;37938771;3805019;666752;6822570;7354069;7592565;8078902;8159699;8644733;8771201;9177788;9843204;9878253", "class_list": "", "function": "Catalyzes the second reaction in the biosynthesis of heme A, a prosthetic group of mitochondrial cytochrome c oxidase (CcO) (PubMed:12474143). Heme A is synthesized from heme B by two sequential enzymatic reactions catalyzed by heme O synthase (HOS) and heme A synthase (HAS). HAS catalyzes the conversion of heme O to heme A by two successive hydroxylations of the methyl group at C8, in a reaction that involves matrix ferredoxin and ferredoxin reductase. The first hydroxylation forms heme I, the second hydroxylation results in an unstable dihydroxymethyl group, which spontaneously dehydrates, resulting in the formyl group of heme A (By similarity)., [UniProtKB, PubMed, UniProtKB]; Cox15 is a novel oncogene that required for lung cancer cell proliferation., [RefSeq, PubMed]; Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]., [RefSeq]; Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy, [RefSeq, PubMed]; Mutations of COX15 causing single amino acid conversions are associated with fatal infantile hypertrophic cardiomyopathy and the neurological disorder Leigh syndrome., [RefSeq, PubMed]; Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K6I9;O60556;O75878;Q5TD00;Q5TD01;Q7Z3Q3;Q9NTN0", "ec_number_list": [ { "id": "7.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.9", "type": "external" }, { "id": "1.17.99.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.17.99.9", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0020037 heme binding;GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors;GO:0120547 heme A synthase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0070069 cytochrome complex;GO:0098803 respiratory chain complex", "go_biological_process": "GO:0006783 heme biosynthetic process;GO:0017004 cytochrome complex assembly;GO:0006784 heme A biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q7KZN9-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UF2-1", "uniprot_id": [ { "id": "CTGE6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UF2", "type": "external" } ], "mass": 87900.0, "length": 777, "protein_name": "cTAGE family member 6", "gene_name": "CTAGE6", "organism": "Human", "refseq_name": "cTAGE family member 6", "refseq_ac": [ { "id": "NP_848656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848656", "type": "external" } ], "gene_names_uniprotkb": "CTAGE6; CTAGE6P", "gene_names_refseq": "CTAGE6P; CTAGE6", "protein_names_uniprotkb": "cTAGE family member 6; Protein cTAGE-6", "protein_names_refseq": "CTAGE family, member 6, pseudogene; cTAGE family member 6; cutaneous T-cell lymphoma-associated antigen 6; protein cTAGE-6; putative protein cTAGE-6", "tax_id": 9606, "disease": "", "pathway": " (hsa:340307)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "33981976;34357683", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4FU29;Q3ZCM5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0070971 endoplasmic reticulum exit site", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0009306 protein secretion;GO:0035459 vesicle cargo loading", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q86UF2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86W10-1", "uniprot_id": [ { "id": "CP4Z1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86W10", "type": "external" } ], "mass": 59086.0, "length": 505, "protein_name": "Cytochrome P450 4Z1", "gene_name": "CYP4Z1", "organism": "Human", "refseq_name": "cytochrome P450 4Z1", "refseq_ac": [ { "id": "NP_835235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835235", "type": "external" } ], "gene_names_uniprotkb": "CYP4Z1; PRO9882", "gene_names_refseq": "CYP4A20; CYP4Z1", "protein_names_uniprotkb": "Cytochrome P450 4Z1; 1.14.14.130; 1.14.14.1; CYPIVZ1; Laurate 7-monooxygenase", "protein_names_refseq": "CYPIVZ1; cytochrome P450 4Z1; cytochrome P450, family 4, subfamily Z, polypeptide 1; laurate 7-monooxygenase", "tax_id": 9606, "disease": "", "pathway": " (hsa:199974)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "12975309;15059886;15797250;19090726;29018033;29242379;29557506;31154438;32044355;32869209;33692504;33968037;34590601;35051231;35318648;36143940", "class_list": "", "function": "A cytochrome P450 monooxygenase that catalyzes the in-chain oxidation of fatty acids (PubMed:19090726, PubMed:29018033). Catalyzes the hydroxylation of carbon-hydrogen bonds. Hydroxylates lauric and myristic acids predominantly at the omega-4 and omega-2 positions, respectively (PubMed:19090726, PubMed:29018033). Catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA). Displays an absolute stereoselectivity in the epoxidation of arachidonic acid producing the 14(S),15(R)-epoxyeicosatrienoic acid (EET) enantiomer (PubMed:29018033). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:19090726, PubMed:29018033)., [UniProtKB, PubMed, PubMed]; Cytochrome 4Z1 Expression Connotes Unfavorable Prognosis in Ovarian Cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Cytochrome 4Z1 Expression Is Correlated with Poor Prognosis in Patients with Cervical Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Human cytochrome P450 (CYP), termed CYP4Z1,was identified, and the cDNA was cloned from a breast carcinoma line ., [RefSeq, PubMed]; Importance of asparagine-381 and arginine-487 for substrate recognition in CYP4Z1., [RefSeq, PubMed]; New Proluciferin Substrates for Human CYP4 Family Enzymes., [RefSeq, PubMed]; PPARalpha has a role in CYP4X1 regulation, and the glucocorticoid and progesterone receptors have roles in CYP4Z1 gene activation, [RefSeq, PubMed]; Profiling of CYP4Z1 and CYP1B1 expression in bladder cancers. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VVE4", "ec_number_list": [ { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "1.14.13.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.n7", "type": "external" }, { "id": "1.14.14.55", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.55", "type": "external" }, { "id": "1.14.14.56", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.56", "type": "external" }, { "id": "1.14.14.73", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.73", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "1.14.14.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.51", "type": "external" }, { "id": "1.14.14.52", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.52", "type": "external" }, { "id": "1.14.14.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.53", "type": "external" }, { "id": "1.14.14.75", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.75", "type": "external" }, { "id": "5.4.4.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.4.7", "type": "external" }, { "id": "1.14.14.74", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.74", "type": "external" }, { "id": "1.14.14.78", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.78", "type": "external" }, { "id": "1.14.14.79", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.79", "type": "external" }, { "id": "1.14.14.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.94", "type": "external" }, { "id": "1.14.14.80", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.80", "type": "external" }, { "id": "1.14.14.130", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.130", "type": "external" } ], "go_molecular_function": "GO:0008404 arachidonate 14,15-epoxygenase activity;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;GO:0052722 fatty acid in-chain hydroxylase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0019369 arachidonate metabolic process;GO:0048252 lauric acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q86W10-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVE0-1", "uniprot_id": [ { "id": "CROL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVE0", "type": "external" } ], "mass": 33334.0, "length": 287, "protein_name": "Putative ciliary rootlet coiled-coil protein-like 2 protein", "gene_name": "CROCCP3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CROCCP3; CROCCL2; KIAA1922", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ciliary rootlet coiled-coil protein-like 2 protein; Ciliary rootlet coiled-coil protein pseudogene 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "29557506;30379171;33141586", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96PW6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8IVE0-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N118-1", "uniprot_id": [ { "id": "CP4X1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N118", "type": "external" } ], "mass": 58875.0, "length": 509, "protein_name": "Cytochrome P450 4X1", "gene_name": "CYP4X1", "organism": "Human", "refseq_name": "cytochrome P450 4X1 isoform 2", "refseq_ac": [ { "id": "NP_001307218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307218", "type": "external" } ], "gene_names_uniprotkb": "CYP4X1; PRO4404", "gene_names_refseq": "CYP4X1; CYPIVX1", "protein_names_uniprotkb": "Cytochrome P450 4X1; 1.14.14.-; CYPIVX1", "protein_names_refseq": "cytochrome P450 4X1 isoform 2; cytochrome P450 4X1; cytochrome P450, family 4, subfamily X, polypeptide 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:260293)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "12975309;15797250;16478468;18549450;23481700;24715725;25595103;26375851;27862975;28834231;29331515;29557506;30032116;30429286;30755683;30779550;31848261;32387766;33298915;34171305;35051231;35580925;37938771", "class_list": "", "function": "A cytochrome P450 monooxygenase that selectively catalyzes the epoxidation of the last double bond of the arachidonoyl moiety of anandamide, potentially modulating endocannabinoid signaling. Has no hydroxylase activity toward various fatty acids, steroids and prostaglandins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase)., [UniProtKB, PubMed]; Key residues were identified to be responsible for the binding of arachidonic acid and anandamide with orphan human cytochrome P450 4X1. Publication Status: Online-Only, [RefSeq, PubMed]; PPARalpha has a role in CYP4X1 regulation, and the glucocorticoid and progesterone receptors have roles in CYP4Z1 gene activation, [RefSeq, PubMed]; Results indicate that the CYP4X1 gene modulates the onset of disease in patients with E200K genetic and sporadic Creutzfeldt-Jakob disease., [RefSeq, PubMed]; The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes and is located within a cluster of genes belonging to this superfamily on chromosome 1. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "G3V1U1;Q5VVE5;Q6ZN67;Q8NAZ3", "ec_number_list": [ { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "1.14.14.55", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.55", "type": "external" }, { "id": "1.14.14.56", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.56", "type": "external" }, { "id": "1.14.14.73", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.73", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "1.14.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.-", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0062189 anandamide 14,15 epoxidase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8N118-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N2A0-1", "uniprot_id": [ { "id": "CX062_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N2A0", "type": "external" } ], "mass": 18329.0, "length": 174, "protein_name": "Putative uncharacterized protein encoded by LINC00269", "gene_name": "LINC00269", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00269; CXorf62; NCRNA00269", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00269", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "26154972;26992070;35494241", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8N2A0-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N436-1", "uniprot_id": [ { "id": "CPXM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N436", "type": "external" } ], "mass": 85870.0, "length": 756, "protein_name": "Inactive carboxypeptidase-like protein X2", "gene_name": "CPXM2", "organism": "Human", "refseq_name": "inactive carboxypeptidase-like protein X2 precursor", "refseq_ac": [ { "id": "NP_937791", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937791", "type": "external" } ], "gene_names_uniprotkb": "CPXM2; CPX2; PRO1310", "gene_names_refseq": "CPX2; CPXM2; UNQ676", "protein_names_uniprotkb": "Inactive carboxypeptidase-like protein X2", "protein_names_refseq": "4632435C11Rik; carboxypeptidase Hlo; carboxypeptidase X (M14 family), member 2; carboxypeptidase-like protein X2; cytosolic carboxypeptidase; inactive carboxypeptidase-like protein X2 precursor; inactive carboxypeptidase-like protein X2", "tax_id": 9606, "disease": "", "pathway": " (hsa:119587)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "12975309;16385451;25892735;27805002;29632046;29741879;30217166;30459171;31364750;31651348;31844290;34916661;35051231;37074911", "class_list": "", "function": "Cpxm2 as a novel candidate for cardiac hypertrophy and failure in hypertension., [RefSeq, PubMed]; Imply an active role for Carboxypeptidase X, M14 family member 2 in promoting tumor aggressiveness via epithelial to mesenchymal transition (EMT) modulation in osteosarcoma Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in cell-cell interactions., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Performance metrics were used to select SNPs in stage 1, which were then genotyped to another dataset (stage 2). Four SNPs (CPXM2 rs2362967, APOC1 rs4420638, ZNF521 rs7230380, and rs12965520) were identified for LOAD by both traditional P-values (without correcting for multiple tests) and performance metrics. Publication Status: Online-Only, [RefSeq, PubMed]; Results imply an active role for CPXM2 in promoting tumor aggressiveness via epithelial to mesenchymal transition (EMT) modulation in GCs., [RefSeq, PubMed]; The Genetic variants located in CPXM2 have the potential to modulate disease course in MS patients and may be used as disease activity biomarkers to identify patients with divergent disease courses. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 56, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 19, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B4E3Q2", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q8N436-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7U9-1", "uniprot_id": [ { "id": "CQ054_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7U9", "type": "external" } ], "mass": 15976.0, "length": 141, "protein_name": "Putative uncharacterized protein encoded by LINC00469", "gene_name": "LINC00469", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00469; C17orf54", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00469", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q495E4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8N7U9-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8Q8-1", "uniprot_id": [ { "id": "COX18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8Q8", "type": "external" } ], "mass": 37063.0, "length": 333, "protein_name": "Cytochrome c oxidase assembly protein COX18, mitochondrial", "gene_name": "COX18", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly protein COX18, mitochondrial isoform 3", "refseq_ac": [ { "id": "NP_001284662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284662", "type": "external" } ], "gene_names_uniprotkb": "COX18; OXA1L2", "gene_names_refseq": "CMT2MM; COX18HS; COX18; MC4DN25; OXA1L2", "protein_names_uniprotkb": "Cytochrome c oxidase assembly protein COX18, mitochondrial; COX18Hs; Cytochrome c oxidase assembly protein 18", "protein_names_refseq": "COX18, cytochrome c oxidase assembly factor; cytochrome c oxidase assembly homolog 18; cytochrome c oxidase assembly protein 18; cytochrome c oxidase assembly protein COX18, mitochondrial isoform 3; cytochrome c oxidase assembly protein COX18, mitochondrial; mitochondrial inner membrane protein COX18", "tax_id": 9606, "disease": "mitochondrial complex 4 deficiency, nuclear type 25 (MONDO:MONDO:0980970); charcot-marie-tooth disease, axonal, type 2MM (MONDO:MONDO:0980971)", "pathway": " (hsa:285521); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "16212937;16911509;19373256;19503089;20200953;20819778;22342701;23125284;23260140;23345593;23746447;24403053;25418920;25926683;25959673;26154972;26321642;26811146;26992070;27693358;28082314;28199844;28330871;29154948;30410026;30568305;31217245;31536960;31844290;32157095;32317297;32357974;32375044;32387766;33298915;33912179;33968037;34357683;34561969;34969438;35318648;35580925;35750769;37468577;40830826;9843204", "class_list": "", "function": "A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy., [RefSeq, PubMed]; Both hCox18p and hCox19p present significant amino acid identity with the corresponding yeast polypeptides and reveal highly conserved functional domains., [RefSeq, PubMed]; COX18 mutations may be very rare or associated with other phenotypes than isolated COX deficiency in infancy., [RefSeq, PubMed]; COX20 stabilizes COX2 during insertion of its N-proximal transmembrane domain, and subsequently, COX18 transiently interacts with COX2 to promote translocation across the inner membrane of the COX2 C-tail that contains the apo-CuA site. The release of COX18 from this complex coincides with the binding of the SCO1-SCO2-COA6 copper metallation module to COX2-COX20 to finalize COX2 biogenesis., [RefSeq, PubMed]; Mitochondrial membrane insertase required for the translocation of the C-terminus of cytochrome c oxidase subunit II (MT-CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT-CO2/COX2 maturation following the COX20-mediated stabilization of newly synthesized MT-CO2/COX2 protein and before the action of the metallochaperones SCO1/2. Essential for the assembly and stability of the mitochondrial respiratory chain complex IV (also known as cytochrome c oxidase)., [UniProtKB, PubMed, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q2PB66;Q2PB67;Q2PB68;Q49B97;Q6IPP9", "ec_number_list": [], "go_molecular_function": "GO:0032977 membrane insertase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly;GO:0008535 respiratory chain complex IV assembly;GO:0051204 protein insertion into mitochondrial membrane;GO:0032979 protein insertion into mitochondrial inner membrane from matrix", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q8N8Q8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9T2-1", "uniprot_id": [ { "id": "CX042_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9T2", "type": "external" } ], "mass": 14163.0, "length": 125, "protein_name": "Putative uncharacterized protein CXorf42", "gene_name": "NKAPP1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "NKAPP1; CXorf42", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein CXorf42; NF-kappa-B-activating protein pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "33298915;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q05CP2;Q14CJ5;Q7Z3P3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N9T2-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBC4-1", "uniprot_id": [ { "id": "CT203_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBC4", "type": "external" } ], "mass": 21159.0, "length": 194, "protein_name": "Uncharacterized protein C20orf203", "gene_name": "C20orf203", "organism": "Human", "refseq_name": "uncharacterized protein C20orf203", "refseq_ac": [ { "id": "NP_872390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872390", "type": "external" } ], "gene_names_uniprotkb": "C20orf203", "gene_names_refseq": "C20orf203", "protein_names_uniprotkb": "Uncharacterized protein C20orf203", "protein_names_refseq": "alugen; uncharacterized protein C20orf203", "tax_id": 9606, "disease": "", "pathway": " (hsa:284805)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "20376170;32161166;35051231;35494241", "class_list": "", "function": "The protein encoded by this gene is thought to be a human-specific protein. Currently available evidence suggests that orthologous regions in other organisms contain sequence differences that would not support production of a protein product. Genome-wide association studies have suggested the possibility that a SNP in the 3' UTR, rs17123507, could be associated with nicotine addiction. Expression of this gene may be elevated in some individuals with Alzheimer's disease. [provided by RefSeq, Mar 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B8JHY2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NBC4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCZ7-1", "uniprot_id": [ { "id": "CU074_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCZ7", "type": "external" } ], "mass": 5991.0, "length": 52, "protein_name": "Putative uncharacterized protein encoded by LINC00308", "gene_name": "LINC00308", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00308; C21orf74; NCRNA00308; PRED16", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00308", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "12036298", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8TCZ7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96L46-1", "uniprot_id": [ { "id": "CPNS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96L46", "type": "external" } ], "mass": 27660.0, "length": 248, "protein_name": "Calpain small subunit 2", "gene_name": "CAPNS2", "organism": "Human", "refseq_name": "calpain small subunit 2", "refseq_ac": [ { "id": "NP_115706", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115706", "type": "external" } ], "gene_names_uniprotkb": "CAPNS2", "gene_names_refseq": "CAPNS2; CSS2", "protein_names_uniprotkb": "Calpain small subunit 2; CSS2; Calcium-dependent protease small subunit 2", "protein_names_refseq": "calcium-dependent protease small subunit 2; calpain small subunit 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84290); (R-HSA-1474228); (R-HSA-8862803); (R-HSA-9856530); (R-HSA-9860927)", "pathway_count": 5, "publication_count": 88, "publication_id_list": "10229672;10376603;10386589;10604467;10639123;10649434;10706100;10764742;10809722;10830966;10986281;11375993;11853546;11872628;11968001;12176338;12724311;12727852;12843408;14973287;15234972;15304325;15590058;15591058;15718470;15958533;16133547;1649600;16631740;16780920;16825321;1698775;1707285;17332331;17354228;17608959;18280240;18434311;18658137;18691386;18710921;19010778;19020623;19571574;19657146;19714641;19723632;20142769;20628086;21030783;21297635;21441952;21670566;21784848;21864727;22159414;22899714;23035980;23390828;23845380;27566546;27797339;29557506;31205027;31408443;31844290;31848261;32037480;32157095;32296767;32673515;33717175;34499618;35154160;7075587;7547873;7698360;7876172;8226919;8626565;8700127;9065415;9115292;9148753;9228946;9461298;9620797;9852107", "class_list": "", "function": "Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. This small subunit may act as a tissue-specific chaperone of the large subunit, possibly by helping it fold into its correct conformation for activity., [UniProtKB]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Our results indicate that prolonged calpain expression in resident brain cells (neurons, glial and endothelial cells) plays an important role in neuronal degeneration following traumatic brain injury., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BPV4", "ec_number_list": [], "go_molecular_function": "GO:0004198 calcium-dependent cysteine-type endopeptidase activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0110158 calpain complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q96L46-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RT6-1", "uniprot_id": [ { "id": "CTGE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RT6", "type": "external" } ], "mass": 85282.0, "length": 745, "protein_name": "cTAGE family member 2", "gene_name": "CTAGE1", "organism": "Human", "refseq_name": "cTAGE family member 2", "refseq_ac": [ { "id": "NP_758441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_758441", "type": "external" } ], "gene_names_uniprotkb": "CTAGE1; CTAGE2", "gene_names_refseq": "CT21.1; CT21.2; CTAGE-1; CTAGE-2; CTAGE1; CTAGE", "protein_names_uniprotkb": "cTAGE family member 2; CT21.2; Cancer/testis antigen 21.2; Protein cTAGE-2", "protein_names_refseq": "cTAGE family member 2; cancer/testis antigen 21.2; cancer/testis antigen family 21, member 1; cancer/testis antigen family 21, member 2; cutaneous T-cell lymphoma-associated antigen 2; protein cTAGE-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64693)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11149944;12839582;18452278;19413330;22752306;24275569;24850846;25576301;28832583;29242379;29557506;31217245;32157095;32938616;32983136;33968037;34932366;35051231;35580925;37217939", "class_list": "", "function": "CTAGE-1 and cTAGE-5 are new cancer germline antigens and that tumor-specific splicing of cTAGE genes may lead to further candidate proteins for specific immunotherapy of cutaneous T cell lymphoma and other malignancies., [RefSeq, PubMed]; Loss of TSC2 in the brain correlates with survival and abnormal behavior., [RefSeq, PubMed]; SYCP1, cTAGE1, and GTSF1 are expressed in cutaneous T-cell lymphoma, but not in normal skin or benign inflammatory dermatoses., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RUF2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0070971 endoplasmic reticulum exit site;GO:0016020 membrane", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0009306 protein secretion;GO:0035459 vesicle cargo loading", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q96RT6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4G1-1", "uniprot_id": [ { "id": "CST9L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4G1", "type": "external" } ], "mass": 17276.0, "length": 147, "protein_name": "Cystatin-9-like", "gene_name": "CST9L", "organism": "Human", "refseq_name": "cystatin-9-like precursor", "refseq_ac": [ { "id": "NP_542177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542177", "type": "external" } ], "gene_names_uniprotkb": "CST9L; CTES7B; PRO3543", "gene_names_refseq": "CST9L; CTES7B; bA218C14.1", "protein_names_uniprotkb": "Cystatin-9-like; Testatin", "protein_names_refseq": "cystatin-9-like precursor; testatin; testicular tissue protein Li 45", "tax_id": 9606, "disease": "", "pathway": " (hsa:128821)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11756564;12975309;15340161;20565543;24715725;29242379", "class_list": "", "function": "Results describe the sequence, genomic structure, chromosomal location, and expression pattern of the human testatin gene., [RefSeq, PubMed]; The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to mouse cystatin 9. Based on its testis-specific expression, it is likely to have a role in tissue reorganization during early testis development. [provided by RefSeq, Jul 2008]., [RefSeq]; We show with phylogenetic relations that the CTES genes are clustered into three original groups, a testatin, a Cres, and a CstL1 group, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R5A1", "ec_number_list": [], "go_molecular_function": "GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0019730 antimicrobial humoral response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9H4G1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAI6-1", "uniprot_id": [ { "id": "TASL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAI6", "type": "external" } ], "mass": 33894.0, "length": 301, "protein_name": "TLR adapter interacting with SLC15A4 on the lysosome", "gene_name": "TASL", "organism": "Human", "refseq_name": "TLR adapter interacting with SLC15A4 on the lysosome", "refseq_ac": [ { "id": "NP_079435", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079435", "type": "external" } ], "gene_names_uniprotkb": "TASL; CXorf21", "gene_names_refseq": "CXorf21; TASL", "protein_names_uniprotkb": "TLR adapter interacting with SLC15A4 on the lysosome", "protein_names_refseq": "5430427O19Rik; TLR adapter interacting with SLC15A4 on the lysosome; TLR adaptor interacting with SLC15A4 on the lysosome; uncharacterized protein CXorf21", "tax_id": 9606, "disease": "", "pathway": " (hsa:80231); (R-HSA-9860276)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "18836453;25326418;25326420;25548167;25880248;26154972;26992070;27846572;28228285;28649982;28832583;28834231;28904123;29242379;29632046;29632711;29786170;30315122;30429286;30524438;31001245;31092820;31154438;31530632;31695690;31844290;32350084;32357974;32387766;32433612;32502341;32897882;32983136;33141586;33298915;33392160;33912179;34357683;34509645;34932366;35051231;35154160;35561310;35580925;36284347;37863913;37938771;38744928;39719710", "class_list": "", "function": "Characterization of cxorf21 Provides Molecular Insight Into Female-Bias Immune Response in SLE Pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of TASL as the component that links endolysosomal TLRs to the IRF5 transcription factor via SLC15A4 provides a mechanistic explanation for the involvement of these proteins in systemic lupus erythematosus, [RefSeq, PubMed]; Innate immune adapter that mediates the recruitment and activation of IRF5 downstream of endolysosomal toll-like receptors TLR7, TLR8 and TLR9 (PubMed:32433612). Following recruitment to endolysosome by SLC15A4 downstream of TLR7, TLR8 and TLR9, specifically recruits IRF5 transcription factor via its pLxIS motif, leading to IRF5 activation and subsequent expression of type I interferons (PubMed:32433612). Plays a role in the regulation of endolysosomal pH in immune cells such as B-cells, dendritic cells and monocytes (PubMed:31001245)., [UniProtKB, PubMed, PubMed]; TASL mediates keratinocyte differentiation by regulating intracellular calcium levels and lysosomal function. Publication Status: Online-Only, [RefSeq, PubMed]; Through combined genetic, in silico, in vitro, and ex vivo approaches, study defines CXorf21, a gene of hitherto unknown function, which escapes X-chromosome inactivation, as a candidate underlying the Xp21.2 systemic lupus erythematosus association and demonstrates that CXorf21 is an IFN-response gene and that the sexual dimorphism in expression is magnified by immunological challenge. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0036020 endolysosome membrane", "go_biological_process": "GO:0034121 regulation of toll-like receptor signaling pathway;GO:0045087 innate immune response;GO:0034157 positive regulation of toll-like receptor 7 signaling pathway;GO:0045089 positive regulation of innate immune response;GO:0035751 regulation of lysosomal lumen pH", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9HAI6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NTQ9-1", "uniprot_id": [ { "id": "CXB4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NTQ9", "type": "external" } ], "mass": 30419.0, "length": 266, "protein_name": "Gap junction beta-4 protein", "gene_name": "GJB4", "organism": "Human", "refseq_name": "gap junction beta-4 protein", "refseq_ac": [ { "id": "NP_694944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694944", "type": "external" } ], "gene_names_uniprotkb": "GJB4", "gene_names_refseq": "CX30.3; EKVP2; EKV; GJB4", "protein_names_uniprotkb": "Gap junction beta-4 protein; Connexin-30.3; Cx30.3", "protein_names_refseq": "connexin 30.3; gap junction beta-4 protein; gap junction protein, beta 4, 30.3kDa", "tax_id": 9606, "disease": "erythrokeratodermia variabilis (Disease Ontology:DOID:0050467); erythrokeratodermia variabilis et progressiva 2 (Disease Ontology:DOID:0080248)", "pathway": " (hsa:127534); (R-HSA-190861)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "10191254;11017804;11933201;12648223;15536180;17200141;1850831;19291775;31848261;32311086;32524838;33048975;38342100;7929580", "class_list": "", "function": "A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families, [RefSeq, PubMed]; Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree., [RefSeq, PubMed]; GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana., [RefSeq, PubMed]; Gap junction beta-4 accelerates cell cycle progression and metastasis through MET-AKT activation in pancreatic cancer., [RefSeq, PubMed]; Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish. Publication Status: Online-Only, [RefSeq, PubMed]; Structural component of gap junctions (By similarity). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The involvement of connexin gene 30.3 (GJB4) in the etiology of erythrokeratodermia variabilis, [RefSeq, PubMed]; This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQ82", "ec_number_list": [], "go_molecular_function": "GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030054 cell junction;GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling;GO:1990349 gap junction-mediated intercellular transport", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9NTQ9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y442-1", "uniprot_id": [ { "id": "CV024_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y442", "type": "external" } ], "mass": 17735.0, "length": 160, "protein_name": "Putative uncharacterized protein YWHAH-AS1", "gene_name": "YWHAH-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "YWHAH-AS1; C22orf24", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein YWHAH-AS1; YWHAH antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RCT4;Q5K3R1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q9Y442-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MWK0-1", "uniprot_id": [ { "id": "FS2P1_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MWK0", "type": "external" } ], "mass": 56358.0, "length": 482, "protein_name": "Putative fatty acid desaturase 2-like protein FADS2B", "gene_name": "FADS2B", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FADS2B; FADS2P1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative fatty acid desaturase 2-like protein FADS2B; Fatty acid desaturase 2 pseudogene 1; Fatty acid desaturase 2B, pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); lipid metabolism disorder (Disease Ontology:DOID:3146)", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "25892735;31844290;31848261;32357974;32387766;35051231;36284347", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0016717 oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006636 unsaturated fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "A8MWK0-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10767-1", "uniprot_id": [ { "id": "FGF6_HUMAN", "url": "https://www.uniprot.org/uniprot/P10767", "type": "external" } ], "mass": 22905.0, "length": 208, "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "organism": "Human", "refseq_name": "fibroblast growth factor 6 precursor", "refseq_ac": [ { "id": "NP_066276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066276", "type": "external" } ], "gene_names_uniprotkb": "FGF6; HST2; HSTF2", "gene_names_refseq": "FGF6; HBGF-6; HST2", "protein_names_uniprotkb": "Fibroblast growth factor 6; FGF-6; HBGF-6; HST-2; HSTF-2; Heparin secretory-transforming protein 2; Heparin-binding growth factor 6", "protein_names_refseq": "FGF-6; HST-2; HSTF-2; fibroblast growth factor 6 precursor; heparin secretory-transforming protein 2; heparin-binding growth factor 6", "tax_id": 9606, "disease": "restless legs syndrome (Disease Ontology:DOID:0050425); developmental and epileptic encephalopathy 47 (Disease Ontology:DOID:0080425); Parkinsonism (Disease Ontology:DOID:0080855); iron deficiency anemia (Disease Ontology:DOID:11758); hypochromic anemia (Disease Ontology:DOID:11759); Parkinson's disease (Disease Ontology:DOID:14330); duodenal ulcer (Disease Ontology:DOID:1724); brain ischemia (Disease Ontology:DOID:2316); anemia (Disease Ontology:DOID:2355); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); pneumonia (Disease Ontology:DOID:552); prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:2251); (R-HSA-109704); (R-HSA-1257604); (R-HSA-1839122); (R-HSA-190322); (R-HSA-190373); (R-HSA-190375); (R-HSA-2033519); (R-HSA-2219530); (R-HSA-5654219); (R-HSA-5654221); (R-HSA-5654228); (R-HSA-5654687); (R-HSA-5654688); (R-HSA-5654689); (R-HSA-5654693); (R-HSA-5654695); (R-HSA-5654699); (R-HSA-5654700); (R-HSA-5654712); (R-HSA-5654719); (R-HSA-5654720); (R-HSA-5654726); (R-HSA-5654727); (R-HSA-5654733); (R-HSA-5655253); (R-HSA-5655302); (R-HSA-5673001); (R-HSA-6811558)", "pathway_count": 29, "publication_count": 232, "publication_id_list": "10053006;10191262;10490103;10508167;10574949;10579907;10618369;10629055;10652257;10869344;10918587;11027663;11055896;11090077;11121055;11136978;11147812;11157491;11237011;11294897;11297579;11313946;11353842;11429702;11447289;11463336;11546808;11606067;11689702;11702783;11739186;11781872;11803464;11997436;12009017;12032311;12094235;12112473;12121613;12167717;12419216;12627230;12660731;12767043;12815057;12974390;1325671;1379698;1381348;14506247;14534538;14613973;14688794;14707138;15050920;15094036;15282208;15324302;15356145;15448205;1545823;1549352;15546878;15548653;15718470;15834429;15863029;15863030;16091734;16140923;16186508;16339315;16456541;16507368;1656221;16597617;16627759;16647110;16684964;16764984;16844695;16847462;16872596;1697263;1716764;17200115;17227708;17344846;17505008;17525745;17552943;17626883;17698633;17803937;17998941;18056464;18079394;18317450;18337450;18373495;18381441;18412956;18452557;18552176;18594509;18606717;18754654;18755892;18757403;18772890;18775330;18829560;18840094;1886714;18925875;18985070;1898771;19103595;19147536;19185485;19187780;19224897;19279408;19381019;19411071;19438505;19576174;19644473;19652666;19696444;19749790;19805105;19809159;19920141;19946327;19962665;20094046;20106510;20117945;20179196;20231295;20338997;20421966;20478380;20522708;20709759;20713702;21102635;21160078;21188471;21317208;21367659;21368164;21372320;21478295;21666749;21668414;21711248;21779497;21779505;21827948;21976531;21984976;21993244;22120714;22188813;22569528;22588880;22589270;22750304;22802530;23103841;23303910;23443682;23575685;24897931;24937142;25219551;25781681;26085527;2649847;28778966;31135801;34491915;34591706;35051231;35355356;39214748;39506091;6148751;7543144;7559490;7637810;7647778;7719344;7744773;7773297;7809086;7874169;7935463;7972015;8052307;8264585;8394845;8493579;8622701;8645157;8657148;8663044;8665852;8710374;8755573;8780727;8798788;8939933;9045692;9139660;9182757;9299490;9438390;9480847;9502772;9539778;9604935;9632781;9660748;9700203;9730987;9736715;9857065;9895304;9927426", "class_list": "glycogene", "function": "FGF6 inhibits oral squamous cell carcinoma progression by regulating PI3K/AKT and MAPK pathways. Erratum:[Sci Rep. 2024 Dec 5;14(1):30375. doi: 10.1038/s41598-024-81416-9. PMID: 39639102] Publication Status: Online-Only, [RefSeq, PubMed]; FGF6 promotes cardiac repair after myocardial infarction by inhibiting the Hippo pathway., [RefSeq, PubMed]; LINC00265 promotes the viability, proliferation, and migration of bladder cancer cells via the miR-4677-3p/FGF6 axis., [RefSeq, PubMed]; Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration., [UniProtKB, PubMed]; Reprint of: Fibroblast Growth Factor 6. Review article, [RefSeq, PubMed]; Skeletal muscle-targeted delivery of Fgf6 protects mice from diet-induced obesity and insulin resistance. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 340, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q0VAE1", "ec_number_list": [], "go_molecular_function": "GO:0008083 growth factor activity;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0042383 sarcolemma", "go_biological_process": "GO:0001525 angiogenesis;GO:0008284 positive regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade;GO:0051781 positive regulation of cell division;GO:0030334 regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 23.3, "record_id": "P10767-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00144-1", "uniprot_id": [ { "id": "FZD9_HUMAN", "url": "https://www.uniprot.org/uniprot/O00144", "type": "external" } ], "mass": 64466.0, "length": 591, "protein_name": "Frizzled-9", "gene_name": "FZD9", "organism": "Human", "refseq_name": "frizzled-9 precursor", "refseq_ac": [ { "id": "NP_003499", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003499", "type": "external" } ], "gene_names_uniprotkb": "FZD9; FZD3", "gene_names_refseq": "CD349; FZD3; FZD9", "protein_names_uniprotkb": "Frizzled-9; Fz-9; FzE6; hFz9", "protein_names_refseq": "frizzled 9, seven transmembrane spanning receptor; frizzled family receptor 9; frizzled homolog 9; frizzled-9 precursor; fz-9; fzE6; hFz9", "tax_id": 9606, "disease": "Williams-Beuren syndrome (Disease Ontology:DOID:1928)", "pathway": " (hsa:8326); (R-HSA-373080)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10.1101/2023.09.13.557529;10097073;11297558;12098667;12559132;15498814;16602827;18801728;20501643;20966082;27314612;27509850;28665975;31154438;32502341;33968037;35149732;3616618;37074911;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9064337;9147651;9707618", "class_list": "", "function": "Data enforced the evidence that knockdown of c-Fos inhibited cell proliferation, migration, and invasion, and promoted the apoptosis of OS cells accompanied by altered expression of Wnt2 and Fzd9 Publication Status: Online-Only, [RefSeq, PubMed]; Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]., [RefSeq]; MiR-520a-5p regulates Frizzled 9 expression and mediates effects of cigarette smoke and iloprost chemoprevention. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for WNT2 that is coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (By similarity). Plays a role in neuromuscular junction (NMJ) assembly by negatively regulating the clustering of acetylcholine receptors (AChR) through the beta-catenin canonical signaling pathway (By similarity). May play a role in neural progenitor cells (NPCs) viability through the beta-catenin canonical signaling pathway by negatively regulating cell cycle arrest leading to inhibition of neuron apoptotic process (PubMed:27509850). During hippocampal development, regulates neuroblast proliferation and apoptotic cell death. Controls bone formation through non canonical Wnt signaling mediated via ISG15. Positively regulates bone regeneration through non canonical Wnt signaling (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; The activity of the Sprouty4 promoter is increased by Wnt7A/Fzd9 signaling through peroxisome proliferator-activated receptor gamma in lung cancer cells., [RefSeq, PubMed]; The present study indicated that the methylation profile of the FZD9 gene corresponded to that of a candidate tumorsuppressor gene in acute myeloid leukemia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0017147 Wnt-protein binding;GO:0042813 Wnt receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007399 nervous system development;GO:0043065 positive regulation of apoptotic process;GO:0051480 regulation of cytosolic calcium ion concentration;GO:0043524 negative regulation of neuron apoptotic process;GO:0030501 positive regulation of bone mineralization", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "O00144-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00358-1", "uniprot_id": [ { "id": "FOXE1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00358", "type": "external" } ], "mass": 38076.0, "length": 373, "protein_name": "Forkhead box protein E1", "gene_name": "FOXE1", "organism": "Human", "refseq_name": "forkhead box protein E1", "refseq_ac": [ { "id": "NP_004464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464", "type": "external" } ], "gene_names_uniprotkb": "FOXE1; FKHL15; FOXE2; TITF2; TTF2", "gene_names_refseq": "BAMLAZ; FKHL15; FOXE1; FOXE2; HFKH4; HFKL5; NMTC4; TITF2; TTF-2; TTF2", "protein_names_uniprotkb": "Forkhead box protein E1; Forkhead box protein E2; Forkhead-related protein FKHL15; HFKH4; HFKL5; HNF-3/fork head-like protein 5; TTF-2; Thyroid transcription factor 2", "protein_names_refseq": "HNF-3/fork head-like protein 5; forkhead box protein E1; forkhead box protein E2; forkhead, drosophila, homolog-like 15; forkhead-related protein FKHL15; thyroid transcription factor 2", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); Bamforth-Lazarus syndrome (Disease Ontology:DOID:0050655); congenital myasthenic syndrome 7 (Disease Ontology:DOID:0110659); congenital myasthenic syndrome (Disease Ontology:DOID:3635); papillary thyroid carcinoma (Disease Ontology:DOID:3969); neuromuscular junction disease (Disease Ontology:DOID:439); thyroid cancer, nonmedullary, 4 (MONDO:MONDO:0014681)", "pathway": " (hsa:2304)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10403172;12165566;16882747;18452278;20094846;20220067;20484477;21177256;24219130;25381600;29242379;31154438;31844290;32387766;32938616;34171305;35051231;35580925;36010968;36347053;37278933;37394057;38396644;9052737;9169137;9697705", "class_list": "", "function": "Adipocyte signaling affects thyroid-specific gene expression via down-regulation of TTF-2/FOXE1. Publication Status: Online-Only, [RefSeq, PubMed]; FOXE1 Contributes to the Development of Psoriasis by Regulating WNT5A., [RefSeq, PubMed]; Identification of Germline FOXE1 and Somatic MAPK Pathway Gene Alterations in Patients with Malignant Struma Ovarii, Cleft Palate and Thyroid Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The high expression of FOXE1 in colorectal cancer predicts a promising prognosis: a retrospective study. Erratum:[Clin Exp Med. 2023 Dec;23(8):5479-5480. doi: 10.1007/s10238-023-01160-8. PMID: 37597038], [RefSeq, PubMed]; This intronless gene encodes a protein that belongs to the forkhead family of transcription factors. Members of this family contain a conserved 100-amino acid DNA-binding 'forkhead' domain. The encoded protein functions as a thyroid transcription factor that plays a role in thyroid morphogenesis. Mutations in this gene are associated with the Bamforth-Lazarus syndrome, and with susceptibility to nonmedullary thyroid cancer-4. [provided by RefSeq, Nov 2016]., [RefSeq]; Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O75765;Q5T109;Q99526", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0030878 thyroid gland development;GO:1904888 cranial skeletal system development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "O00358-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14926-1", "uniprot_id": [ { "id": "FSCN2_HUMAN", "url": "https://www.uniprot.org/uniprot/O14926", "type": "external" } ], "mass": 55057.0, "length": 492, "protein_name": "Fascin-2", "gene_name": "FSCN2", "organism": "Human", "refseq_name": "fascin-2 isoform 2", "refseq_ac": [ { "id": "NP_001070650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070650", "type": "external" } ], "gene_names_uniprotkb": "FSCN2", "gene_names_refseq": "FSCN2; RFSN; RP30", "protein_names_uniprotkb": "Fascin-2; Retinal fascin", "protein_names_refseq": "fascin homolog 2, actin-bundling protein, retinal; fascin-2 isoform 2; fascin-2", "tax_id": 9606, "disease": "pheochromocytoma (Disease Ontology:DOID:0050771); familial erythrocytosis 2 (Disease Ontology:DOID:0060474); Parkinsonism (Disease Ontology:DOID:0080855); retinitis pigmentosa 30 (Disease Ontology:DOID:0110406); retinitis pigmentosa (Disease Ontology:DOID:10584); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); von Hippel-Lindau disease (Disease Ontology:DOID:14175); pancreatic cancer (Disease Ontology:DOID:1793); nephroblastoma (Disease Ontology:DOID:2154); auditory system disease (Disease Ontology:DOID:2742); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); renal cell carcinoma (Disease Ontology:DOID:4450); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); hepatocellular carcinoma (Disease Ontology:DOID:684); polycythemia (Disease Ontology:DOID:8432); retinal degeneration (Disease Ontology:DOID:8466); sudden infant death syndrome (Disease Ontology:DOID:9007); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:25794); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 13, "publication_id_list": "10025409;10234509;10783262;10821263;10892848;11163272;11527955;28272224;29331515;29557506;29970086;34477172;35051231", "class_list": "", "function": "Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis., [UniProtKB]; Diffuse expression in 82% of undifferentiated/dedifferentiated endometrial carcinomas, [RefSeq, PubMed]; Fascin as a useful marker for cancer-associated fibroblasts in invasive lung adenocarcinoma., [RefSeq, PubMed]; Fascin induces melanoma tumorigenesis and stemness through regulating the Hippo pathway Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 19, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AVC4;A8MRA6", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0030674 protein-macromolecule adaptor activity;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0032420 stereocilium", "go_biological_process": "GO:0016477 cell migration;GO:0030036 actin cytoskeleton organization;GO:0051017 actin filament bundle assembly;GO:0007601 visual perception;GO:0007163 establishment or maintenance of cell polarity", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "O14926-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43320-1", "uniprot_id": [ { "id": "FGF16_HUMAN", "url": "https://www.uniprot.org/uniprot/O43320", "type": "external" } ], "mass": 23759.0, "length": 207, "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "organism": "Human", "refseq_name": "fibroblast growth factor 16", "refseq_ac": [ { "id": "NP_003859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003859", "type": "external" } ], "gene_names_uniprotkb": "FGF16", "gene_names_refseq": "FGF-16; FGF16; MF4", "protein_names_uniprotkb": "Fibroblast growth factor 16; FGF-16", "protein_names_refseq": "fibroblast growth factor 16; metacarpal 4-5 fusion", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 47 (Disease Ontology:DOID:0080425); syndactyly type 8 (Disease Ontology:DOID:0111813)", "pathway": " (hsa:8823); (R-HSA-109704); (R-HSA-1257604); (R-HSA-1839130); (R-HSA-190322); (R-HSA-190372); (R-HSA-190375); (R-HSA-2033519); (R-HSA-2219530); (R-HSA-5654221); (R-HSA-5654227); (R-HSA-5654228); (R-HSA-5654695); (R-HSA-5654699); (R-HSA-5654700); (R-HSA-5654704); (R-HSA-5654706); (R-HSA-5654710); (R-HSA-5654712); (R-HSA-5654719); (R-HSA-5654720); (R-HSA-5654727); (R-HSA-5654732); (R-HSA-5654733); (R-HSA-5655253); (R-HSA-5655332); (R-HSA-5673001); (R-HSA-6811558)", "pathway_count": 28, "publication_count": 233, "publication_id_list": "10191262;10490103;10508167;10574949;10579907;10618369;10629055;10652257;10869344;10918587;11027663;11055896;11090077;11121055;11136978;11147812;11157491;11294897;11313946;11353842;11429702;11447289;11546808;11689702;11702783;11739186;11781872;11803464;11997436;12009017;12032311;12094235;12121613;12167717;12419216;12461689;12660731;12767043;12815057;12974390;1325671;1379698;1381348;14506247;14534538;14613973;14707138;14715624;14871245;15029211;15094036;15282208;15356145;15448205;1545823;15546878;15598814;15718470;15834429;15863029;15863030;15880580;16091734;16140923;16339315;16456541;16467200;16532037;1656221;16597617;16627759;16638743;16647110;16684964;16844695;16847462;1697263;1716764;17200115;17227708;17344846;17505008;17525745;17552943;17626883;17803937;17998941;18079394;18317450;18337450;18373495;18381441;18452557;18552176;18594509;18606717;18754654;18755892;18757403;18757432;18775330;18829560;18840094;18925875;1898771;19103595;19147536;19185485;19187780;19279408;19381019;19411071;19438505;19576174;19644473;19652666;19690332;19749790;19805105;19809159;19855393;19920141;19946327;19962665;20094046;20106510;20179196;20231295;20338997;20478380;20522708;20709759;20713702;21102635;21160078;21188471;21317208;21367659;21368164;21372320;21478295;21666749;21668414;21711248;21779497;21779505;21827948;21976531;21984976;21993244;22120714;22188813;22569528;22588880;22589270;22750304;22802530;22837387;23103841;23175443;23298836;23303910;23443682;23558953;23575685;23709756;24588013;24897931;24937142;25219551;25333065;25467007;25781681;26085527;28409700;28778966;29485866;31135801;31292167;31801200;32983136;33956078;39894887;6148751;7543144;7559490;7637810;7647778;7719344;7744773;7773297;7809086;7935463;7972015;8052307;8264585;8394845;8493579;8589699;8599935;8622701;8640234;8645157;8657148;8663044;8665852;8710374;8754806;8755573;8780727;8798788;8841188;8845844;8939933;9045692;9154000;9182757;9279753;9299490;9438390;9473496;9480847;9502772;9538690;9539778;9604935;9632781;9660748;9700203;9736715;9857065;9895304;9927426", "class_list": "glycogene", "function": "Experiments demonstrated FGF16 could promote proliferation of NCL-H460 cells by activating Akt, Erk1/2, and p38 MAPK signaling, whereas JNK had no significant effect., [RefSeq, PubMed]; FGF16 is capable of inducing proliferation of iPSC-derived cardiac progenitor cells. Publication Status: Online-Only, [RefSeq, PubMed]; MiRNA-144-3p inhibits high glucose induced cell proliferation through suppressing FGF16. Publication Status: Online-Only, [RefSeq, PubMed]; Patient-specific iPSC-derived cardiomyocytes reveal abnormal regulation of FGF16 in a familial atrial septal defect. Erratum:[Cardiovasc Res. 2024 Dec 31;120(17):2320. doi: 10.1093/cvr/cvae227. PMID: 39485389], [RefSeq, PubMed]; Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation, and is required for normal cardiomyocyte proliferation and heart development., [UniProtKB, PubMed]; This gene encodes a member of a family of proteins that are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene is expressed in cardiac cells and is required for proper heart development. Mutation in this gene was also observed in individuals with metacarpal 4-5 fusion. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 142, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008083 growth factor activity;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade;GO:0009266 response to temperature stimulus", "synthesized_glycan_count": 0, "hit_score": 23.6, "record_id": "O43320-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75636-1", "uniprot_id": [ { "id": "FCN3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75636", "type": "external" } ], "mass": 32903.0, "length": 299, "protein_name": "Ficolin-3", "gene_name": "FCN3", "organism": "Human", "refseq_name": "ficolin-3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_003656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003656", "type": "external" } ], "gene_names_uniprotkb": "FCN3; FCNH; HAKA1", "gene_names_refseq": "FCN3; FCNH; HAKA1", "protein_names_uniprotkb": "Ficolin-3; Collagen/fibrinogen domain-containing lectin 3 p35; Collagen/fibrinogen domain-containing protein 3; H-ficolin; Hakata antigen", "protein_names_refseq": "H-ficolin; collagen/fibrinogen domain-containing lectin 3 p35; collagen/fibrinogen domain-containing protein 3; ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen); ficolin-3 isoform 1 precursor", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); immunodeficiency due to ficolin3 deficiency (MONDO:MONDO:0013467)", "pathway": " (hsa:8547); (R-HSA-166662); (R-HSA-166663); (R-HSA-2855086)", "pathway_count": 4, "publication_count": 67, "publication_id_list": "10330454;10639434;10679061;10925294;11012776;11237011;11532276;11907111;12367778;12396008;14280442;14702039;14707097;15078867;15199963;15340161;15489334;15728497;15804047;16116205;16335952;16710414;17215869;17897951;17938215;18343499;18596036;1859827;19139490;19159218;19535802;20032467;20375619;20375634;20400674;20971976;21730084;22226667;22238349;2276712;23090970;25662573;26133042;26173080;29557506;29671580;31154438;31373851;32094208;32157095;32601370;33499929;33591573;33859174;35051231;35580925;37074911;37484802;37938771;38219652;38698462;39357793;6019133;70787;7391573;8538770;9694814", "class_list": "glycogene", "function": "A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile., [RefSeq, PubMed]; Calcium-dependent lectin, which acts as a pattern recognition receptor that initiates the lectin pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:11907111, PubMed:15804047, PubMed:17215869, PubMed:26133042). Specifically recognizes and binds carbohydrates on the pathogen surface, activating the MASP1 serine protease and initiating the proteolytic cascade of the lectin complement pathway (PubMed:15804047, PubMed:17215869, PubMed:26133042). Specifically binds N-Acetylglucosamine (GlcNAc,) GalNAc (N-acetylgalactosamine) and D-fucose on the surface of pathogens, as well as mono/oligosaccharide and lipopolysaccharides from S.typhimurium and S.minnesota (PubMed:17215869)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Ficolin 3 promotes ferroptosis in HCC by downregulating IR/SREBP axis-mediated MUFA synthesis. Publication Status: Online-Only, [RefSeq, PubMed]; Ficolin-3 induces apoptosis and suppresses malignant property of hepatocellular carcinoma cells via the complement pathway., [RefSeq, PubMed]; Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; Loss of ficolin-3 expression is associated with poor prognosis in patients with hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 374, "reported_interactions": 0, "missing_score": 8686, "biomarker_type": "prognostic", "glycan_count": 14, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IBJ5;Q8WW86", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0003823 antigen binding;GO:0038187 pattern recognition receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0072562 blood microparticle;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0051607 defense response to virus;GO:0001867 complement activation, lectin pathway;GO:0006956 complement activation;GO:1903028 positive regulation of opsonization", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "O75636-1", "record_type": "protein", "filter_code": "0001000.1000111.100000.000000000001000000.1000000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95750-1", "uniprot_id": [ { "id": "FGF19_HUMAN", "url": "https://www.uniprot.org/uniprot/O95750", "type": "external" } ], "mass": 24003.0, "length": 216, "protein_name": "Fibroblast growth factor 19", "gene_name": "FGF19", "organism": "Human", "refseq_name": "fibroblast growth factor 19 precursor", "refseq_ac": [ { "id": "NP_005108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005108", "type": "external" } ], "gene_names_uniprotkb": "FGF19; PRO533", "gene_names_refseq": "FGF19", "protein_names_uniprotkb": "Fibroblast growth factor 19; FGF-19", "protein_names_refseq": "FGF-19; fibroblast growth factor 19 precursor", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); developmental and epileptic encephalopathy 47 (Disease Ontology:DOID:0080425); congenital sucrase-isomaltase deficiency (Disease Ontology:DOID:0111633); alcoholic hepatitis (Disease Ontology:DOID:12351); exocrine pancreatic insufficiency (Disease Ontology:DOID:13316)", "pathway": " (hsa:9965); (R-HSA-109704); (R-HSA-1257604); (R-HSA-1307965); (R-HSA-190322); (R-HSA-2219530); (R-HSA-5654228); (R-HSA-5654712); (R-HSA-5654719); (R-HSA-5654720); (R-HSA-5654733); (R-HSA-5673001); (R-HSA-6811558)", "pathway_count": 13, "publication_count": 166, "publication_id_list": "10191262;10508167;10525310;10579907;10629055;10652257;10869344;11027663;11090077;11136978;11147812;11294897;11313946;11353842;11447289;11546808;11702783;11803464;11997436;12032311;12094235;12121613;12167717;12419216;12660731;12767043;12815057;12815072;12974390;12975309;1325671;1379698;1381348;14506247;14534538;14707138;14730967;15094036;15340161;15356145;1545823;15546878;15718470;15834429;15863029;15863030;16339315;16456541;1656221;16597617;16627759;16647110;16684964;16844695;16847462;1716764;17200115;17227708;17339340;17623664;17626883;17998941;18079394;18317450;18373495;18452557;18594509;18606717;18754654;18755892;18775330;18829467;18829560;18840094;18925875;1898771;19063940;19085950;19185485;19187780;19279408;19411071;19438505;19576174;19644473;19652666;19805105;19920141;19962665;20080590;20094046;20231295;20338997;20478380;20522708;20713702;21102635;21188471;21317208;21368164;21372320;21478295;21668414;21779497;21779505;21827948;21976531;21984976;21993244;22120714;22188813;22569528;22588880;22589270;22750304;22802530;23103841;23303910;23443682;23575685;23747249;24897931;24937142;25219551;25576301;25781681;26085527;28778966;31135801;33981976;35051231;37186335;37782406;38780301;39053672;39341924;6148751;7543144;7559490;7637810;7744773;7809086;7935463;7972015;8052307;8264585;8394845;8493579;8622701;8645157;8657148;8665852;8710374;8780727;8939933;9045692;9182757;9299490;9480847;9604935;9632781;9660748;9736715;9895304;9927426;9931477", "class_list": "glycogene", "function": "Effect of Fibroblast Growth Factor (FGF) 19 and 21 on Hip Geometry and Strength in Post-menopausal Osteoporosis (PMO)., [RefSeq, PubMed]; Effects of intestine-specific deletion of FGF15 on the development of fatty liver disease with vertical sleeve gastrectomy. Publication Status: Online-Only, [RefSeq, PubMed]; FGF19 promotes nasopharyngeal carcinoma progression by inducing angiogenesis via inhibiting TRIM21-mediated ANXA2 ubiquitination., [RefSeq, PubMed]; Involved in the suppression of bile acid biosynthesis through down-regulation of CYP7A1 expression, following positive regulation of the JNK and ERK1/2 cascades. Stimulates glucose uptake in adipocytes. Activity requires the presence of KLB and FGFR4., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; PTX promotes breast cancer migration and invasion by recruiting ATF4 to upregulate FGF19., [RefSeq, PubMed]; Suppression of the gut microbiota-bile acid-FGF19 axis in patients with atrial fibrillation., [RefSeq, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This growth factor is a high affinity, heparin dependent ligand for FGFR4. Expression of this gene was detected only in fetal but not adult brain tissue. Synergistic interaction of the chick homolog and Wnt-8c has been shown to be required for initiation of inner ear development. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 412, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008083 growth factor activity;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0007399 nervous system development;GO:0008284 positive regulation of cell population proliferation;GO:0010629 negative regulation of gene expression;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "O95750-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08620-1", "uniprot_id": [ { "id": "FGF4_HUMAN", "url": "https://www.uniprot.org/uniprot/P08620", "type": "external" } ], "mass": 22048.0, "length": 206, "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "organism": "Human", "refseq_name": "fibroblast growth factor 4 precursor", "refseq_ac": [ { "id": "NP_001998", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001998", "type": "external" } ], "gene_names_uniprotkb": "FGF4; HSTF1; HST; KS3", "gene_names_refseq": "FGF-4; FGF4; HBGF-4; HST-1; HSTF-1; HSTF1; HST; K-FGF; KFGF; SRTD22", "protein_names_uniprotkb": "Fibroblast growth factor 4; FGF-4; HBGF-4; HST-1; HSTF-1; HST; Heparin secretory-transforming protein 1; Heparin-binding growth factor 4; Transforming protein KS3", "protein_names_refseq": "fibroblast growth factor 4 precursor; heparin secretory transforming protein 1; heparin-binding growth factor 4; human stomach cancer, transforming factor from FGF-related oncogene; kaposi sarcoma oncogene; oncogene HST; transforming protein KS3", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 47 (Disease Ontology:DOID:0080425); intestinal disease (Disease Ontology:DOID:5295); short-rib thoracic dysplasia 22 without polydactyly (MONDO:MONDO:0979242)", "pathway": " (hsa:2249); (R-HSA-109704); (R-HSA-1257604); (R-HSA-1839122); (R-HSA-1839130); (R-HSA-190322); (R-HSA-190372); (R-HSA-190373); (R-HSA-190375); (R-HSA-2033519); (R-HSA-2219530); (R-HSA-5654219); (R-HSA-5654221); (R-HSA-5654227); (R-HSA-5654228); (R-HSA-5654687); (R-HSA-5654688); (R-HSA-5654689); (R-HSA-5654693); (R-HSA-5654695); (R-HSA-5654699); (R-HSA-5654700); (R-HSA-5654704); (R-HSA-5654706); (R-HSA-5654710); (R-HSA-5654712); (R-HSA-5654719); (R-HSA-5654720); (R-HSA-5654726); (R-HSA-5654727); (R-HSA-5654732); (R-HSA-5654733); (R-HSA-5655253); (R-HSA-5655302); (R-HSA-5655332); (R-HSA-5658623); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-9834899); (R-HSA-9937080)", "pathway_count": 40, "publication_count": 273, "publication_id_list": "10053006;10191262;10490103;10508167;10574949;10579907;10618369;10629055;10652257;10869344;10918587;11027663;11055896;11090077;11121055;11136978;11147812;11157491;11294897;11297579;11313946;11353842;11418238;11429702;11447289;11463336;11486033;11546808;11606067;11689702;11702783;11739186;11781872;11803464;11997436;12009017;12032311;12094235;12112473;12121613;12167717;12419216;12461689;12627230;12660731;12767043;12815057;12974390;1325671;1379698;1381348;14506247;14534538;14613973;14688794;14707138;14715624;14871245;15029211;15050920;15094036;15282208;15324302;15356145;15448205;1545823;15546878;15548653;15598814;15718470;15834429;15863029;15863030;15880580;16091734;16140923;16186508;16339315;16456541;16467200;16507368;16532037;1656221;16597617;16627759;16638743;16647110;16684964;16764984;16844695;16847462;16872596;1697263;1716764;17200115;17227708;17344846;17505008;17525745;17552943;17626883;17698633;17803937;17998941;18056464;18061161;18079394;18192227;18317450;18337450;18373495;18381441;18412956;18452557;18552176;18594509;18606717;18754654;18755892;18757403;18757432;18772890;18775330;18829560;18840094;18925875;18985070;1898771;19103595;19147536;19185485;19187780;19224897;19279408;19381019;19411071;19438505;19576174;19644473;19652666;19696444;19715689;19749790;19805105;19809159;19855393;19920134;19920141;19946327;19962665;20094046;20106510;20117945;20179196;20231295;20338997;20421966;20478380;20522708;20709759;20713702;21102635;21160078;21188471;21317208;21367659;21368164;21372320;21478295;21616146;21666749;21668414;21711248;21779497;21779505;21827948;21976531;21984976;21993244;22120714;22188813;22432025;22569528;22588880;22589270;22750304;22802525;22802530;22837387;23103841;23112089;23175443;23298836;23303910;23443682;23558953;23575685;23640895;24026051;24588013;24897931;24937142;25219551;25467007;25781681;26085527;28778966;2953031;2957062;2959959;31135801;32023352;32350084;33199729;34087483;36521556;36702076;39095789;39894887;40259859;6148751;7543144;7559490;7637810;7647778;7719344;7744773;7773297;7809086;7874169;7935463;7972015;8052307;8264585;8394845;8493579;8589699;8599935;8622701;8640234;8645157;8657148;8663044;8665852;8710374;8754806;8755573;8780727;8798788;8841188;8845844;8895516;8939933;9045692;9139660;9154000;9182757;9279753;9299490;9438390;9480847;9502772;9538690;9539778;9604935;9632781;9660748;9700203;9730987;9736715;9857065;9895304;9927426", "class_list": "glycogene", "function": "FGF4 Promotes Skin Wound Repair through p38 MAPK and GSK3beta-Mediated Stabilization of Slug., [RefSeq, PubMed]; FGF4 ameliorates the liver inflammation by reducing M1 macrophage polarization in experimental autoimmune hepatitis. Publication Status: Online-Only, [RefSeq, PubMed]; FGF4 improves hepatocytes ferroptosis in autoimmune hepatitis mice via activation of CISD3., [RefSeq, PubMed]; Gene duplication, rather than epigenetic changes, drives FGF4 overexpression in KIT/PDGFRA/SDH/RAS-P WT GIST. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-511 inhibits proliferation and metastasis of breast cancer cells by targeting FGF4., [RefSeq, PubMed]; Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal limb and cardiac valve development during embryogenesis. May play a role in embryonic molar tooth bud development via inducing the expression of MSX1, MSX2 and MSX1-mediated expression of SDC1 in dental mesenchyme cells (By similarity)., [UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 430, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7U994", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0008083 growth factor activity;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 27.6, "record_id": "P08620-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11487-1", "uniprot_id": [ { "id": "FGF3_HUMAN", "url": "https://www.uniprot.org/uniprot/P11487", "type": "external" } ], "mass": 26887.0, "length": 239, "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "organism": "Human", "refseq_name": "fibroblast growth factor 3 precursor", "refseq_ac": [ { "id": "NP_005238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005238", "type": "external" } ], "gene_names_uniprotkb": "FGF3; INT2", "gene_names_refseq": "FGF3; HBGF-3; INT2", "protein_names_uniprotkb": "Fibroblast growth factor 3; FGF-3; HBGF-3; Heparin-binding growth factor 3; Proto-oncogene Int-2", "protein_names_refseq": "FGF-3; INT-2 proto-oncogene protein; V-INT2 murine mammary tumor virus integration site oncogene homolog; fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog); fibroblast growth factor 3 precursor; heparin-binding growth factor 3; murine mammary tumor virus integration site 2, mouse; oncogene INT2; proto-oncogene Int-2", "tax_id": 9606, "disease": "familial hypercholanemia 2 (Disease Ontology:DOID:0061182); developmental and epileptic encephalopathy 47 (Disease Ontology:DOID:0080425); alcoholic hepatitis (Disease Ontology:DOID:12351); cholestasis (Disease Ontology:DOID:13580); obesity (Disease Ontology:DOID:9970); deafness with labyrinthine aplasia, microtia, and microdontia (MONDO:MONDO:0012541)", "pathway": " (hsa:2248); (R-HSA-109704); (R-HSA-1257604); (R-HSA-190370); (R-HSA-190377); (R-HSA-2033519); (R-HSA-2219530); (R-HSA-5654219); (R-HSA-5654221); (R-HSA-5654687); (R-HSA-5654688); (R-HSA-5654689); (R-HSA-5654693); (R-HSA-5654695); (R-HSA-5654699); (R-HSA-5654700); (R-HSA-5654726); (R-HSA-5654727); (R-HSA-5655253); (R-HSA-5658623); (R-HSA-5673001); (R-HSA-6811558)", "pathway_count": 22, "publication_count": 234, "publication_id_list": "10191262;10490103;10508167;10574949;10579907;10618369;10629055;10652257;10869344;10918587;11027663;11055896;11090077;11121055;11136978;11147812;11157491;11294897;11297579;11313946;11353842;11418238;11429702;11447289;11463336;11509569;11546808;11606067;11689702;11702783;11739186;11781872;11803464;11997436;12009017;12032311;12094235;12121613;12167717;12419216;12627230;12660731;12767043;12815057;12974390;1325671;1379698;1381348;14506247;14534538;14688794;14707138;15094036;15282208;15324302;15356145;15448205;1545823;15546878;15548653;15718470;15806171;15834429;15863029;15863030;16091734;16140923;16324873;16339315;16456541;16507368;1656221;16597617;16627759;16647110;16684964;16764984;16844695;16847462;16872596;1697263;1716764;17200115;17227708;17236138;17344846;17505008;17525745;17552943;17626883;17803937;17998941;18061161;18079394;18317450;18337450;18373495;18381441;18435799;18452557;18552176;18594509;18606717;18701883;18754654;18755892;18757403;18775330;18829560;18840094;1885605;18925875;18985070;1898771;19103595;19147536;19185485;19187780;19279408;19381019;19411071;19438505;19576174;19644473;19652666;19696444;19715689;19749790;19805105;19809159;19920134;19920141;19946327;19962665;20094046;20106510;20117945;20179196;20231295;20338997;20421966;20478380;20522708;20709759;20713702;21102635;21160078;21188471;21317208;21367659;21368164;21372320;21478295;21480479;21616146;21666749;21668414;21711248;21779497;21779505;21827948;21976531;21984976;21993244;22120714;22188813;22432025;22569528;22588880;22589270;22750304;22802525;22802530;23103841;23112089;23303910;23443682;23575685;23640895;24026051;2470007;24897931;24937142;25219551;25781681;26085527;28778966;29272002;31135801;31336982;31574782;32723837;37741710;6148751;7543144;7559490;7637810;7647778;7719344;7744773;7773297;7809086;7935463;7972015;8052307;8264585;8394845;8493579;8622701;8645157;8657148;8663044;8665852;8710374;8755573;8780727;8798788;8939933;9045692;9182757;9299490;9438390;9480847;9502772;9539778;9604935;9632781;9660748;9700203;9730987;9736715;9857065;9895304;9927426", "class_list": "glycogene", "function": "Acquired FGFR and FGF Alterations Confer Resistance to Estrogen Receptor (ER) Targeted Therapy in ER(+) Metastatic Breast Cancer., [RefSeq, PubMed]; Eight cases of LAMM syndrome with three novel FGF3 mutations Publication Status: Online-Only, [RefSeq, PubMed]; Genetic polymorphisms in FGF3, FGF10, and FGF13 genes were associated with temporomandibular disorders in a population with dentofacial deformities, [RefSeq, PubMed]; Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development., [UniProtKB, PubMed]; Primer on FGF3. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested the role in inner ear formation. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of int-2 expression can significantly inhibit the invasion and metastasis of BcaCD885 cells, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 525, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q0VG69", "ec_number_list": [], "go_molecular_function": "GO:0008083 growth factor activity;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade;GO:0051781 positive regulation of cell division", "synthesized_glycan_count": 0, "hit_score": 23.5, "record_id": "P11487-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18505-1", "uniprot_id": [ { "id": "GBRB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P18505", "type": "external" } ], "mass": 54235.0, "length": 474, "protein_name": "Gamma-aminobutyric acid receptor subunit beta-1", "gene_name": "GABRB1", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit beta-1 precursor", "refseq_ac": [ { "id": "NP_000803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000803", "type": "external" } ], "gene_names_uniprotkb": "GABRB1", "gene_names_refseq": "DEE45; EIEE45; GABRB1", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit beta-1; GABA(A) receptor subunit beta-1; GABAAR subunit beta-1", "protein_names_refseq": "GABAAR subunit beta-1; gamma-aminobutyric acid (GABA) A receptor, beta 1; gamma-aminobutyric acid receptor subunit beta-1 precursor; gamma-aminobutyric acid receptor subunit beta-1; gamma-aminobutyric acid type A receptor beta1 subunit", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); developmental and epileptic encephalopathy 45 (Disease Ontology:DOID:0080428); autistic disorder (Disease Ontology:DOID:12849); hepatic encephalopathy (Disease Ontology:DOID:13413); depressive disorder (Disease Ontology:DOID:1596); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:2560); (R-HSA-1236394); (R-HSA-977443)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10.1101/2023.09.13.557529;10195104;10449790;10542332;10867024;11237011;1315307;1321150;1321750;1323140;15024690;16412217;1655634;1664410;17364682;17398006;17545517;17924679;18382465;1849271;18721752;19828786;2160058;23934111;2465923;24722188;26950270;27273810;2847710;29393594;29557506;31154438;35051231;35416273;38136660;39894887;7565730;7929212;8178835;8264558;8382267;8391122;8617750;8632757;8719414;8719416;9135143;9168115;9275162;9556621", "class_list": "", "function": "Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:10449790, PubMed:16412217, PubMed:26950270). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain one or two GABA active binding sites located at the alpha and beta subunit interfaces, depending on subunit composition (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:10449790, PubMed:16412217, PubMed:26950270). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (PubMed:16412217, PubMed:26950270). Beta-containing GABAARs can simultaneously bind GABA and histamine where histamine binds at the interface of two neighboring beta subunits, which may be involved in the regulation of sleep and wakefulness (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, PubMed]; Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects. Publication Status: Online-Only, [RefSeq, PubMed]; MiRNA-384-5p Targets GABRB1 to Regulate Ketamine-Induced Neurotoxicity in Neurons., [RefSeq, PubMed]; The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R6U7;D6REL3;Q16166;Q8TBK3", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0015276 ligand-gated monoatomic ion channel activity;GO:0050811 GABA receptor binding;GO:0004890 GABA-A receptor activity;GO:0022851 GABA-gated chloride ion channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005635 nuclear envelope;GO:0005886 plasma membrane;GO:0030425 dendrite", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0007165 signal transduction;GO:0007214 gamma-aminobutyric acid signaling pathway;GO:0032229 negative regulation of synaptic transmission, GABAergic;GO:0032570 response to progesterone", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "P18505-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22466-1", "uniprot_id": [ { "id": "GALA_HUMAN", "url": "https://www.uniprot.org/uniprot/P22466", "type": "external" } ], "mass": 13302.0, "length": 123, "protein_name": "Galanin peptides", "gene_name": "GAL", "organism": "Human", "refseq_name": "galanin peptides preproprotein", "refseq_ac": [ { "id": "NP_057057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057057", "type": "external" } ], "gene_names_uniprotkb": "GAL; GAL1; GALN; GLNN", "gene_names_refseq": "ETL8; GAL-GMAP; GALN; GAL; GLNN; GMAP", "protein_names_uniprotkb": "Galanin peptides", "protein_names_refseq": "galanin peptides preproprotein; galanin peptides; galanin prepropeptide; galanin-message-associated peptide; galanin-related peptide; galanin/GMAP prepropeptide", "tax_id": 9606, "disease": "familial temporal lobe epilepsy 8 (Disease Ontology:DOID:0060754); hypertension (Disease Ontology:DOID:10763); mononeuropathy (Disease Ontology:DOID:1188); alcohol use disorder (Disease Ontology:DOID:1574); brain ischemia (Disease Ontology:DOID:2316); opiate dependence (Disease Ontology:DOID:2559); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:51083); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 134, "publication_id_list": "10.1038/emboj.2013.79;10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;1370155;14463577;14550283;14573733;14997482;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16807684;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;18669648;18767875;19415658;19664995;20068231;21406692;23186163;23446738;23584533;23690594;24906252;2534964;25576301;25691535;2649896;26992070;2748346;27496565;2834384;28834231;31611695;3202875;32350084;33534034;33537174;33552060;3366244;34925648;35051231;35251023;3525564;35913979;36215666;37938771;3856870;6274691;6281660;6373251;6589611;6786888;7057924;7508413;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Endocrine hormone of the central and peripheral nervous systems that binds and activates the G protein-coupled receptors GALR1, GALR2, and GALR3. This small neuropeptide may regulate diverse physiologic functions including contraction of smooth muscle of the gastrointestinal and genitourinary tract, growth hormone and insulin release and adrenal secretion., [UniProtKB, PubMed, PubMed, PubMed]; Increased Serum Neuropeptide Galanin Level Is a Predictor of Cognitive Dysfunction in Patients with Hip Fracture. Publication Status: Online-Only, [RefSeq, PubMed]; Review: Occurrence and Distribution of Galanin in the Physiological and Inflammatory States in the Mammalian Gastrointestinal Tract. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Serum Galanin in Children with Autism Spectrum Disorder., [RefSeq, PubMed]; Structure of the human galanin receptor 2 bound to galanin and Gq reveals the basis of ligand specificity and how binding affects the G-protein interface. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a neuroendocrine peptide that is widely expressed in the central and peripheral nervous systems and also the gastrointestinal tract, pancreas, adrenal gland and urogenital tract. The encoded protein is a precursor that is proteolytically processed to generate two mature peptides: galanin and galanin message-associated peptide (GMAP). Galanin has diverse physiological functions including nociception, feeding and energy homeostasis, osmotic regulation and water balance. GMAP has been demonstrated to possess antifungal activity and hypothesized to be part of the innate immune system. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q14413", "ec_number_list": [], "go_molecular_function": "GO:0005184 neuropeptide hormone activity;GO:0031763 galanin receptor binding;GO:0004966 galanin receptor activity;GO:0031764 type 1 galanin receptor binding;GO:0031765 type 2 galanin receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule;GO:0043025 neuronal cell body", "go_biological_process": "GO:0031943 regulation of glucocorticoid metabolic process;GO:0007165 signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0007626 locomotory behavior", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "P22466-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47870-2", "uniprot_id": [ { "id": "GBRB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P47870", "type": "external" } ], "mass": 59150.0, "length": 512, "protein_name": "Gamma-aminobutyric acid receptor subunit beta-2", "gene_name": "GABRB2", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit beta-2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_000804", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000804", "type": "external" } ], "gene_names_uniprotkb": "GABRB2", "gene_names_refseq": "DEE92; GABRB2; ICEE2", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit beta-2; GABA(A) receptor subunit beta-2; GABAAR subunit beta-2", "protein_names_refseq": "GABA(A) receptor subunit beta-2; GABAAR subunit beta-2; gamma-aminobutyric acid A receptor beta 2; gamma-aminobutyric acid receptor subunit beta-2 isoform 2 precursor; gamma-aminobutyric acid type A receptor beta2 subunit", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); developmental and epileptic encephalopathy 92 (Disease Ontology:DOID:0080471); autistic disorder (Disease Ontology:DOID:12849)", "pathway": " (hsa:2561); (R-HSA-1236394); (R-HSA-977443)", "pathway_count": 3, "publication_count": 46, "publication_id_list": "10449790;10542332;10867024;12818177;1315307;1321750;1334482;15024690;1664410;16983389;17364682;17398006;17545517;18382465;1849271;18721752;19763268;19828786;23909897;2465923;25124326;25489750;27789573;2847710;28904123;29100083;29950725;31848261;32387766;32938616;38964454;38996765;7565730;7707873;7929212;8264558;8382267;8391122;8617750;8632757;8719414;8719416;9135143;9168115;9275162;9556621", "class_list": "", "function": "Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:19763268, PubMed:27789573, PubMed:29950725, PubMed:8264558). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (PubMed:29950725). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (By similarity). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (By similarity). GABAARs containing alpha-1 and beta-2 or -3 subunits exhibit synaptogenic activity; the gamma-2 subunit being necessary but not sufficient to induce rapid synaptic contacts formation (PubMed:23909897, PubMed:25489750). Extrasynaptic beta-2 receptors contribute to the tonic GABAergic inhibition (By similarity). Beta-containing GABAARs can simultaneously bind GABA and histamine where histamine binds at the interface of two neighboring beta subunits, which may be involved in the regulation of sleep and wakefulness (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants., [RefSeq, PubMed]; The de novo missense mutation F224S in GABRB2, identified in epileptic encephalopathy and developmental delay, impairs GABAAR function., [RefSeq, PubMed]; The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K115;A8K1A0;D1LYT0;D1LYT1;Q16323;Q4FZB2", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0005254 chloride channel activity;GO:0004890 GABA-A receptor activity;GO:0022851 GABA-gated chloride ion channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0043197 dendritic spine;GO:0045211 postsynaptic membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0060384 innervation;GO:0007214 gamma-aminobutyric acid signaling pathway;GO:0007268 chemical synaptic transmission;GO:0032229 negative regulation of synaptic transmission, GABAergic;GO:1902476 chloride transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "P47870-2", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58012-1", "uniprot_id": [ { "id": "FOXL2_HUMAN", "url": "https://www.uniprot.org/uniprot/P58012", "type": "external" } ], "mass": 38772.0, "length": 376, "protein_name": "Forkhead box protein L2", "gene_name": "FOXL2", "organism": "Human", "refseq_name": "forkhead box protein L2", "refseq_ac": [ { "id": "NP_075555", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075555", "type": "external" } ], "gene_names_uniprotkb": "FOXL2", "gene_names_refseq": "BPES1; BPES; FOXL2; PFRK; PINTO; POF3", "protein_names_uniprotkb": "Forkhead box protein L2", "protein_names_refseq": "forkhead box protein L2; forkhead transcription factor FOXL2", "tax_id": 9606, "disease": "primary ovarian insufficiency 3 (Disease Ontology:DOID:0080860); blepharophimosis, ptosis, and epicanthus inversus syndrome (Disease Ontology:DOID:14778); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); granulosa cell tumor (Disease Ontology:DOID:2999); lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:668); (R-HSA-3232118)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "11175783;11468277;12072434;12149404;12161610;12356736;12400065;12419227;12529855;12560069;12630957;12938087;15247228;15257268;15300845;15494207;15507434;16153597;16454982;16781829;17089161;17283066;18372316;18374648;18452278;18484667;18617891;18642388;19010791;19429596;19516027;19744555;19956657;20016603;20209145;20547755;21098080;21375726;21900752;21965678;22022399;22159675;22296244;22742556;23186163;23372819;23417673;24390485;24782567;24835590;25114211;25218447;26073453;27610946;27935866;32161166;32387766;35051231;37798106;37932670;37938073;38192172;38253038;38558253;39534244;40596516", "class_list": "", "function": "Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly., [RefSeq, PubMed]; Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family. Publication Status: Online-Only, [RefSeq, PubMed]; FOXL2 and NR5A1 induce human fibroblasts into steroidogenic ovarian granulosa-like cells., [RefSeq, PubMed]; FOXL2: a gene central to ovarian function., [RefSeq, PubMed]; Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology., [RefSeq, PubMed]; This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016]., [RefSeq]; Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans-differentiation of ovary to testis through transcriptional repression of the Sertoli cell-promoting gene SOX9 (By similarity). Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen (By similarity). Is a regulator of CYP19 expression (By similarity). Participates in SMAD3-dependent transcription of FST via the intronic SMAD-binding element (By similarity). Is a transcriptional repressor of STAR. Activates SIRT1 transcription under cellular stress conditions. Activates transcription of OSR2., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q4ZGJ3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0031624 ubiquitin conjugating enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0043065 positive regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P58012-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08830-1", "uniprot_id": [ { "id": "FGL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08830", "type": "external" } ], "mass": 36379.0, "length": 312, "protein_name": "Fibrinogen-like protein 1", "gene_name": "FGL1", "organism": "Human", "refseq_name": "fibrinogen-like protein 1 precursor", "refseq_ac": [ { "id": "NP_004458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004458", "type": "external" } ], "gene_names_uniprotkb": "FGL1; HFREP1", "gene_names_refseq": "FGL1; HFREP1; HP-041; HPS; LFIRE-1; LFIRE1", "protein_names_uniprotkb": "Fibrinogen-like protein 1; HFREP-1; HP-041; HPS; Hepassocin; Hepatocyte-derived fibrinogen-related protein 1; LFIRE-1; Liver fibrinogen-related protein 1", "protein_names_refseq": "fibrinogen-like protein 1 precursor; fibrinogen-like protein 1; hepassocin; hepatocellular carcinoma-related sequence; hepatocyte-derived fibrinogen-related protein 1; liver fibrinogen-related protein 1", "tax_id": 9606, "disease": "biotin-responsive basal ganglia disease (Disease Ontology:DOID:0050659); dextro-looped transposition of the great arteries (Disease Ontology:DOID:0060770); immunodeficiency 114 (Disease Ontology:DOID:0061080); malaria (Disease Ontology:DOID:12365); hematologic cancer (Disease Ontology:DOID:2531); abdominal aortic aneurysm (Disease Ontology:DOID:7693); chronic kidney disease (Disease Ontology:DOID:784); cleft lip (Disease Ontology:DOID:9296)", "pathway": " (hsa:2267)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11470158;14981537;15063762;18039467;19880967;29557506;29632711;30580966;31154438;33091337;35051231;35580925;35761082;36993960;37162630;37872170;39085849;40101708;8390249", "class_list": "", "function": "Clinical Significance and Prognostic Value of the Expression of LAG-3 and FGL1 in Esophageal Squamous Cell Carcinoma., [RefSeq, PubMed]; Data demonstrated that liver-specific gene LFIRE-1/HFREP-1 was frequently downregulated and might possess growth suppressor activity in HCC, [RefSeq, PubMed]; FGL1: a novel biomarker and target for non-small cell lung cancer, promoting tumor progression and metastasis through KDM4A/STAT3 transcription mechanism. Publication Status: Online-Only, [RefSeq, PubMed]; Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Fibrinogen-like protein 1 promotes liver-resident memory T-cell exhaustion in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Immune suppressive molecule that inhibits antigen-specific T-cell activation by acting as a ligand of LAG3 (PubMed:30580966, PubMed:35761082, PubMed:40101708). LAG3-binding initiates a signaling that inhibits the T-cell receptor (TCR) in the immunological synapse, preventing T-cell activation (PubMed:30580966). Binds LAG3 independently from MHC class II (MHC-II) (PubMed:30580966, PubMed:35761082). Secreted by, and promotes growth of, hepatocytes (PubMed:11470158, PubMed:19880967)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The liver microenvironment orchestrates FGL1-mediated immune escape and progression of metastatic colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NKU4;Q4PJH9;Q53YF1;Q8NG32;Q96KW6;Q96QM6", "ec_number_list": [], "go_molecular_function": "GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0005577 fibrinogen complex", "go_biological_process": "GO:0072574 hepatocyte proliferation;GO:0007596 blood coagulation;GO:0050776 regulation of immune response;GO:0002250 adaptive immune response;GO:0050860 negative regulation of T cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q08830-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12951-1", "uniprot_id": [ { "id": "FOXI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12951", "type": "external" } ], "mass": 40973.0, "length": 378, "protein_name": "Forkhead box protein I1", "gene_name": "FOXI1", "organism": "Human", "refseq_name": "forkhead box protein I1 isoform a", "refseq_ac": [ { "id": "NP_036320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036320", "type": "external" } ], "gene_names_uniprotkb": "FOXI1; FKHL10; FREAC6", "gene_names_refseq": "FKH10; FKHL10; FOXI1; FREAC-6; FREAC6; HFH-3; HFH3", "protein_names_uniprotkb": "Forkhead box protein I1; FREAC-6; Forkhead-related protein FKHL10; Forkhead-related transcription factor 6; HFH-3; HNF-3/fork-head homolog 3; Hepatocyte nuclear factor 3 forkhead homolog 3", "protein_names_refseq": "HNF-3/fork-head homolog-3; forkhead box protein I1 isoform a; forkhead box protein I1; forkhead-like 10; forkhead-related activator 6; forkhead-related protein FKHL10; forkhead-related transcription factor 6; hepatocyte nuclear factor 3 forkhead homolog 3", "tax_id": 9606, "disease": "Pendred Syndrome (Disease Ontology:DOID:0060744); autosomal recessive nonsyndromic deafness 4 (Disease Ontology:DOID:0110498)", "pathway": " (hsa:2299)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "18669648;30779550;36184087;36499699;36748152;37777971;7957066;9153225", "class_list": "", "function": "Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies. Publication Status: Online-Only, [RefSeq, PubMed]; Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families., [RefSeq, PubMed]; This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]., [RefSeq]; Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity)., [UniProtKB]; [Analysis of genotypes on 850 newborns with SLC26A4 single-allele mutation and the phenotypes of those with second variant]., [RefSeq, PubMed]; [Diagnosis of a Chinese pedigree affected with autosomal recessive deafness 4 with enlarged vestibular aqueduct due to compound heterozygous variants of FOXI1 gene]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q14518;Q66SR7;Q8N6L8", "ec_number_list": [], "go_molecular_function": "GO:0008301 DNA binding, bending;GO:0003700 DNA-binding transcription factor activity;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0000785 chromatin", "go_biological_process": "GO:0009792 embryo development ending in birth or egg hatching;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q12951-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13070-1", "uniprot_id": [ { "id": "GAGE6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13070", "type": "external" } ], "mass": 12892.0, "length": 117, "protein_name": "G antigen 6", "gene_name": "GAGE6", "organism": "Human", "refseq_name": "G antigen 6", "refseq_ac": [ { "id": "NP_001467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001467", "type": "external" } ], "gene_names_uniprotkb": "GAGE6", "gene_names_refseq": "CT4.6; GAGE6", "protein_names_uniprotkb": "G antigen 6; CT4.6; Cancer/testis antigen 4.6; GAGE-6", "protein_names_refseq": "G antigen 6; GAGE-6; cancer/testis antigen 4.6; cancer/testis antigen family 4, member 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:2578)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "10397259;18179644;27869121;7544395", "class_list": "", "function": "This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q13070-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43603-1", "uniprot_id": [ { "id": "GALR2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43603", "type": "external" } ], "mass": 41700.0, "length": 387, "protein_name": "Galanin receptor type 2", "gene_name": "GALR2", "organism": "Human", "refseq_name": "galanin receptor type 2", "refseq_ac": [ { "id": "NP_003848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003848", "type": "external" } ], "gene_names_uniprotkb": "GALR2; GALNR2", "gene_names_refseq": "GAL2-R; GALNR2; GALR-2; GALR2", "protein_names_uniprotkb": "Galanin receptor type 2; GAL2-R; GALR-2", "protein_names_refseq": "galanin receptor type 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8811); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 118, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18083107;18127230;18434541;1847994;18577758;23446738;23690594;24517231;24906252;2534964;25691535;2649896;2748346;27496565;2834384;28514659;28832583;29557506;30616468;3202875;32231393;3366244;35051231;3525564;35409094;35913979;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9480833;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594;9880084", "class_list": "", "function": "Galanin Receptors (GalR1, GalR2, and GalR3) Expression in Colorectal Cancer Tissue and Correlations to the Overall Survival and Poor Prognosis of CRC Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Galanin is an important neuromodulator present in the brain, gastrointestinal system, and hypothalamopituitary axis. It is a 30-amino acid non-C-terminally amidated peptide that potently stimulates growth hormone secretion, inhibits cardiac vagal slowing of heart rate, abolishes sinus arrhythmia, and inhibits postprandial gastrointestinal motility. The actions of galanin are mediated through interaction with specific membrane receptors that are members of the 7-transmembrane family of G protein-coupled receptors. GALR2 interacts with the N-terminal residues of the galanin peptide. The primary signaling mechanism for GALR2 is through the phospholipase C/protein kinase C pathway (via Gq), in contrast to GALR1, which communicates its intracellular signal by inhibition of adenylyl cyclase through Gi. However, it has been demonstrated that GALR2 couples efficiently to both the Gq and Gi proteins to simultaneously activate 2 independent signal transduction pathways. [provided by RefSeq, Jul 2008]., [RefSeq]; Low GALR2 expression is associated with gastric cancer., [RefSeq, PubMed]; Molecular structures that confer ligand selectivity for galanin type II and III receptors Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for the hormone galanin and GALP. Receptor for the hormone spexin-1 (PubMed:24517231). The activity of this receptor is mediated by G proteins that activate the phospholipase C/protein kinase C pathway (via G(q)) and that inhibit adenylyl cyclase (via G(i))., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structure of the human galanin receptor 2 bound to galanin and Gq reveals the basis of ligand specificity and how binding affects the G-protein interface. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A5JUU4;Q32MN8", "ec_number_list": [], "go_molecular_function": "GO:0017046 peptide hormone binding;GO:0004966 galanin receptor activity;GO:0042923 neuropeptide binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0016020 membrane;GO:0097731 9+0 non-motile cilium", "go_biological_process": "GO:0006936 muscle contraction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007611 learning or memory;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "O43603-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21781-1", "uniprot_id": [ { "id": "FGF7_HUMAN", "url": "https://www.uniprot.org/uniprot/P21781", "type": "external" } ], "mass": 22509.0, "length": 194, "protein_name": "Fibroblast growth factor 7", "gene_name": "FGF7", "organism": "Human", "refseq_name": "fibroblast growth factor 7 precursor", "refseq_ac": [ { "id": "NP_002000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002000", "type": "external" } ], "gene_names_uniprotkb": "FGF7; KGF", "gene_names_refseq": "FGF7; HBGF-7; KGF", "protein_names_uniprotkb": "Fibroblast growth factor 7; FGF-7; HBGF-7; Heparin-binding growth factor 7; Keratinocyte growth factor", "protein_names_refseq": "FGF-7; fibroblast growth factor 7 precursor; heparin-binding growth factor 7; keratinocyte growth factor", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 47 (Disease Ontology:DOID:0080425); Bartter disease type 1 (Disease Ontology:DOID:0110142); prostate cancer (Disease Ontology:DOID:10283); prostatic hypertrophy (Disease Ontology:DOID:11132); leiomyoma (Disease Ontology:DOID:127); squamous cell carcinoma (Disease Ontology:DOID:1749); epilepsy (Disease Ontology:DOID:1826); ovarian cancer (Disease Ontology:DOID:2394); endometrial carcinoma (Disease Ontology:DOID:2871); severe acute respiratory syndrome (Disease Ontology:DOID:2945); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); Bartter disease (Disease Ontology:DOID:445); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778)", "pathway": " (hsa:2252); (R-HSA-109704); (R-HSA-1257604); (R-HSA-190377); (R-HSA-2033519); (R-HSA-2219530); (R-HSA-5654221); (R-HSA-5654695); (R-HSA-5654699); (R-HSA-5654700); (R-HSA-5654727); (R-HSA-5655253); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-9937080)", "pathway_count": 15, "publication_count": 212, "publication_id_list": "10191262;10490103;10508167;10574949;10579907;10618369;10629055;10652257;10869344;10918587;11027663;11055896;11090077;11121055;11136978;11147812;11157491;11237011;11294897;11313946;11353842;11429702;11447289;11509569;11546808;11689702;11702783;11739186;11781872;11803464;11997436;12009017;12032311;12094235;12121613;12167717;12419216;12660731;12767043;12815057;12974390;1325671;1379698;1381348;14506247;14534538;14707138;15094036;15282208;15356145;15448205;1545823;15546878;15718470;15806171;15834429;15863029;15863030;16091734;16140923;16324873;16339315;16456541;1656221;16597617;16627759;1664700;16647110;16684964;16844695;16847462;1697263;1716764;17200115;17227708;17344846;17505008;17525745;17552943;17626883;17803937;17998941;18079394;18317450;18337450;18373495;18381441;18452557;18552176;18594509;18606717;18754654;18755892;18757403;18775330;18829560;18840094;1885605;18925875;1898771;19103595;19147536;19185485;19187780;19279408;19381019;19411071;19438505;19576174;19644473;19652666;19749790;19805105;19809159;19920141;19946327;19962665;20094046;20106510;20179196;20231295;20338997;20478380;20522708;20709759;20713702;21102635;21160078;21188471;21317208;21367659;21368164;21372320;21478295;21666749;21668414;21711248;21779497;21779505;21827948;21976531;21984976;21993244;22120714;22188813;22569528;22588880;22589270;22750304;22802530;23103841;23303910;23443682;23575685;2475908;24897931;24937142;25219551;25781681;26085527;28778966;28832583;2915979;29557506;31135801;35051231;36693332;37340703;37797460;38654010;39048474;39247826;6148751;7543144;7559490;7637810;7647778;7719344;7744773;7773297;7809086;7935463;7972015;8052307;8264585;8394845;8493579;8622701;8645157;8657148;8663044;8665852;8710374;8755573;8780727;8798788;8939933;9045692;9182757;9299490;9438390;9480847;9502772;9539778;9604935;9632781;9660748;9700203;9736715;9857065;9895304;9927426", "class_list": "glycogene", "function": "FGF7 and FGF10 Promote Fate Transition of Human Epidermal Cell-derived Organoids to an Eccrine Gland Phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; FGF7 enhances the expression of ACE2 in human islet organoids aggravating SARS-CoV-2 infection. Publication Status: Online-Only, [RefSeq, PubMed]; Hepatocyte survival and proliferation by fibroblast growth factor 7 attenuates liver inflammation, and fibrogenesis during acute liver injury via paracrine mechanisms., [RefSeq, PubMed]; Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. Growth factor active on keratinocytes. Possible major paracrine effector of normal epithelial cell proliferation., [UniProtKB, PubMed, PubMed]; Primer on fibroblast growth factor 7 (FGF 7). Review article, [RefSeq, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of FGF7 Induced Intravesical Prostatic Protrusion of Benign Prostatic Hyperplasia via the ERK1/2 Signaling Pathway., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 201, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 14, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "H0YNY5;Q6FGV5;Q96FG5", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0042056 chemoattractant activity;GO:0008083 growth factor activity;GO:0005111 type 2 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade;GO:0008544 epidermis development;GO:0030324 lung development", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "P21781-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q52M58-1", "uniprot_id": [ { "id": "CN177_HUMAN", "url": "https://www.uniprot.org/uniprot/Q52M58", "type": "external" } ], "mass": 13861.0, "length": 125, "protein_name": "Testis-specific protein LINC02914", "gene_name": "LINC02914", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC02914; C14orf177", "gene_names_refseq": "", "protein_names_uniprotkb": "Testis-specific protein LINC02914; Long intergenic non-protein coding RNA 2914", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "28891297;30379171;37217939", "class_list": "", "function": "May play a role in the flagellum biology., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8N7D2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0031514 motile cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q52M58-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15040-1", "uniprot_id": [ { "id": "TCPR2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15040", "type": "external" } ], "mass": 153848.0, "length": 1411, "protein_name": "Tectonin beta-propeller repeat-containing protein 2", "gene_name": "TECPR2", "organism": "Human", "refseq_name": "tectonin beta-propeller repeat-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001166102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102", "type": "external" } ], "gene_names_uniprotkb": "TECPR2; KIAA0297; KIAA0329", "gene_names_refseq": "HSAN9; KIAA0329; SPG49; TECPR2", "protein_names_uniprotkb": "Tectonin beta-propeller repeat-containing protein 2; WD repeat-containing protein KIAA0329/KIAA0297", "protein_names_refseq": "tectonin beta-propeller repeat-containing protein 2 isoform 2; tectonin beta-propeller repeat-containing protein 2", "tax_id": 9606, "disease": "hereditary sensory and autonomic neuropathy type 9 (Disease Ontology:DOID:0110801)", "pathway": " (hsa:9895)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "20562859;23176824;25576301;25880248;26154972;26375851;26431026;26992070;27600516;27846572;27862975;28218747;28228285;28657654;28832583;28904123;29242379;29331515;29393594;29437277;29508533;29557506;29632046;30315122;30429286;31154438;31844290;31848261;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33298915;33592498;33912179;33936100;33968037;33981976;34357683;34509645;34932366;34933910;35051231;35154160;35318648;35494241;35580925;38436550", "class_list": "", "function": "Multimodal bioinformatic analyses of the neurodegenerative disease-associated TECPR2 gene reveal its diverse roles., [RefSeq, PubMed]; Probably plays a role as positive regulator of autophagy., [UniProtKB, PubMed]; Results show that TECPR2 associates with several trafficking components as SEC24D and cooperates with LC3C to regulate ER exit sites and ER export suggesting that TECPR2 functions as molecular scaffold linking early secretion pathway and autophagy., [RefSeq, PubMed]; TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine., [RefSeq, PubMed]; The discovered TECPR2 mutation implicates autophagy, a central intracellular mechanism, in spastic paraparesis., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A5PKY3;A6NFY9;A7E2X3;H0YMM9;Q9UEG6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006914 autophagy;GO:0032527 protein exit from endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O15040-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13507-2", "uniprot_id": [ { "id": "TRPC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13507", "type": "external" } ], "mass": 105538.0, "length": 921, "protein_name": "Short transient receptor potential channel 3", "gene_name": "TRPC3", "organism": "Human", "refseq_name": "short transient receptor potential channel 3 isoform a", "refseq_ac": [ { "id": "NP_001124170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124170", "type": "external" } ], "gene_names_uniprotkb": "TRPC3; TRP3", "gene_names_refseq": "SCA41; TRP3; TRPC3", "protein_names_uniprotkb": "Short transient receptor potential channel 3; TRP-3; Transient receptor protein 3; TrpC3; hTrp-3; hTrp3", "protein_names_refseq": "hTrp-3; short transient receptor potential channel 3 isoform a; short transient receptor potential channel 3; transient receptor protein 3", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); cerebellar ataxia type 41 (Disease Ontology:DOID:0111744); pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:7222); (R-HSA-114508); (R-HSA-139853); (R-HSA-3295583); (R-HSA-418890); (R-HSA-9022699)", "pathway_count": 6, "publication_count": 45, "publication_id_list": "10611319;11050376;11080611;11226139;11243859;11301059;11413485;11805119;12015988;1422598;14634208;15728370;15757897;17258231;17850865;19033211;20025796;20095964;20716668;2175712;24150225;2457808;25389312;25424712;25477146;25765567;25855297;26214522;29700422;29726814;30139744;35051376;37759438;37977270;38673977;38771735;7568191;8646775;9215637;9417057;9535843;9565569;9601053;9853757;9930701", "class_list": "", "function": "Forms a receptor-activated non-selective calcium permeant cation channel (PubMed:29726814, PubMed:30139744, PubMed:35051376, PubMed:9417057, PubMed:9930701, PubMed:10611319)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Forms a receptor-activated non-selective calcium permeant cation channel. May be operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G protein-coupled receptors., [UniProtKB, PubMed]; Modulation and Regulation of Canonical Transient Receptor Potential 3 (TRPC3) Channels. Review article Publication Status: Online-Only, [RefSeq, PubMed]; New insights in the renal distribution profile of TRPC3 - Of mice and men., [RefSeq, PubMed]; Protective Role of TRPC3 Gene Polymorphism (rs10518289) in Obstructive Sleep Apnea Hypopnea Syndrome Among Hypertensive Patients. Publication Status: Online-Only, [RefSeq, PubMed]; TRPC3 Is Downregulated in Primary Hyperparathyroidism. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A7VJS1;E9PCJ9;O00593;Q15660;Q52M35;Q5G1L5", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0070679 inositol 1,4,5 trisphosphate binding;GO:0005262 calcium channel activity;GO:0046872 metal ion binding;GO:0005227 calcium-activated cation channel activity;GO:0015279 store-operated calcium channel activity", "go_cellular_component": "GO:0034703 cation channel complex;GO:0005886 plasma membrane", "go_biological_process": "GO:1903244 positive regulation of cardiac muscle hypertrophy in response to stress;GO:0051592 response to calcium ion;GO:0006816 calcium ion transport;GO:0051480 regulation of cytosolic calcium ion concentration;GO:0007338 single fertilization", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q13507-2", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T230-1", "uniprot_id": [ { "id": "UTF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T230", "type": "external" } ], "mass": 36439.0, "length": 341, "protein_name": "Undifferentiated embryonic cell transcription factor 1", "gene_name": "UTF1", "organism": "Human", "refseq_name": "undifferentiated embryonic cell transcription factor 1", "refseq_ac": [ { "id": "NP_003568", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003568", "type": "external" } ], "gene_names_uniprotkb": "UTF1", "gene_names_refseq": "UTF1", "protein_names_uniprotkb": "Undifferentiated embryonic cell transcription factor 1", "protein_names_refseq": "undifferentiated embryonic cell transcription factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8433)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "18281244;18983962;19393592;19664994;19664995;21406692;24614704;33753728;34171305;35051231;38486279;9748258", "class_list": "", "function": "Acts as a transcriptional coactivator of ATF2., [UniProtKB, PubMed]; Enhances reprogramming efficiency of pluripotent stem cells generation induced from human adult fibroblasts, [RefSeq, PubMed]; Human UTF1 is a tightly DNA-associated protein with transcriptional repressor activity., [RefSeq, PubMed]; Sox9 downregulation in non-obstructive azoospermia by UTF1 and mediator role of POU5F1. Publication Status: Online-Only, [RefSeq, PubMed]; The Sumo proteome of proliferating and neuronal-differentiating cells reveals Utf1 among key Sumo targets involved in neurogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; The expression pattern indicated that UTF-1 plays a possible role in spermatogonial self-renewal, [RefSeq, PubMed]; The protein encoded by this gene is a leucine zipper-containing transcriptional coactivator that may link the upstream activator ATF2 with the basal transcription complex. The encoded protein is closely associated with chromatin and is required for the proper differentiation of embryonic carcinoma and embryonic stem cells. Found nearly exclusively in pluripotent cells, this protein can also serve as a transcriptional repressor. [provided by RefSeq, Nov 2015]., [RefSeq]; With a sensitivity of 100% and a specificity of 97% in the detection of central nervous system (CNS) germinomas, UTF1 serves as a new reliable alternative in the diagnostic setting of CNS germ cell tumours., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O75833;Q6J1H3", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0008584 male gonad development", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q5T230-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3KR37-1", "uniprot_id": [ { "id": "ASTRB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3KR37", "type": "external" } ], "mass": 85400.0, "length": 738, "protein_name": "Protein Aster-B", "gene_name": "GRAMD1B", "organism": "Human", "refseq_name": "protein Aster-B isoform 1", "refseq_ac": [ { "id": "NP_001273492", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273492", "type": "external" } ], "gene_names_uniprotkb": "GRAMD1B; KIAA1201; PRO9834", "gene_names_refseq": "GRAMD1B; LAMb; LINC01059", "protein_names_uniprotkb": "Protein Aster-B; GRAM domain-containing protein 1B", "protein_names_refseq": "GRAM domain-containing protein 1B; long intergenic non-protein coding RNA 1059; protein Aster-B isoform 1; protein Aster-B", "tax_id": 9606, "disease": "", "pathway": " (hsa:57476)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11237011;12975309;18669648;19651622;20068231;23186163;23481700;24715725;25418920;26992070;27600516;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29632046;29632711;29769354;29786170;29934528;30220461;30410026;31537798;31719211;31844290;32357974;32387766;32502341;32738348;32897882;32938616;32983136;33141586;33298915;33604931;33912179;34185709;34211107;34509645;35051231;35394870;35580925;36010968;36241641;36284347", "class_list": "", "function": "Aster proteins mediate carotenoid transport in mammalian cells., [RefSeq, PubMed]; Aster-B coordinates with Arf1 to regulate mitochondrial cholesterol transport., [RefSeq, PubMed]; Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis in the adrenal gland and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (By similarity). At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transport from the PM to ER (By similarity). Also mediates cholesterol transfer from lysosomes to endoplasmic reticulum through interaction with NPC1 (PubMed:31537798)., [UniProtKB, UniProtKB, PubMed]; Circular RNA circGRAMD1B inhibits gastric cancer progression by sponging miR-130a-3p and regulating PTEN and p21 expression., [RefSeq, PubMed]; GRAMD1B regulates cell migration in breast cancer cells through JAK/STAT and Akt signaling Publication Status: Online-Only, [RefSeq, PubMed]; Molecular basis of accessible plasma membrane cholesterol recognition by the GRAM domain of GRAMD1b., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KXJ5;E7EPH8;Q6UW85;Q9ULL9", "ec_number_list": [], "go_molecular_function": "GO:0015485 cholesterol binding;GO:0001786 phosphatidylserine binding;GO:0070300 phosphatidic acid binding;GO:0120020 cholesterol transfer activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0140268 endoplasmic reticulum-plasma membrane contact site", "go_biological_process": "GO:0032366 intracellular sterol transport;GO:0071397 cellular response to cholesterol;GO:0042632 cholesterol homeostasis;GO:0090120 lysosome to ER cholesterol transport", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q3KR37-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23378-1", "uniprot_id": [ { "id": "GCSP_HUMAN", "url": "https://www.uniprot.org/uniprot/P23378", "type": "external" } ], "mass": 112730.0, "length": 1020, "protein_name": "Glycine dehydrogenase (decarboxylating), mitochondrial", "gene_name": "GLDC", "organism": "Human", "refseq_name": "glycine dehydrogenase (decarboxylating), mitochondrial precursor", "refseq_ac": [ { "id": "NP_000161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000161", "type": "external" } ], "gene_names_uniprotkb": "GLDC; GCSP", "gene_names_refseq": "GCE1; GCE; GCSP; GLDC; HYGN1", "protein_names_uniprotkb": "Glycine dehydrogenase (decarboxylating), mitochondrial; 1.4.4.2; Glycine cleavage system P protein; Glycine decarboxylase; Glycine dehydrogenase (aminomethyl-transferring)", "protein_names_refseq": "glycine cleavage system protein P; glycine decarboxylase P-protein; glycine dehydrogenase (aminomethyl-transferring); glycine dehydrogenase (decarboxylating), mitochondrial precursor; glycine dehydrogenase (decarboxylating), mitochondrial; glycine dehydrogenase [decarboxylating], mitochondrial; nonketotic hyperglycinemia", "tax_id": 9606, "disease": "glycine encephalopathy 1 (Disease Ontology:DOID:0070616); stomach cancer (Disease Ontology:DOID:10534); glycine encephalopathy (Disease Ontology:DOID:9268)", "pathway": " (hsa:2731); (R-HSA-6783984)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "11237011;11286506;11592811;16051266;16263718;1634607;18088087;1959641;1993704;1996985;2025283;25576301;25645385;27600516;28244183;28737873;29437277;29557506;30779550;31154438;31773974;31844290;32157095;32488085;32502341;32897882;32938616;32983136;33912179;34561969;34932366;35051231;35460232;35494241;37668829;37781511;6469978;9242632", "class_list": "", "function": "Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]., [RefSeq]; GLDC promotes colorectal cancer metastasis through epithelial-mesenchymal transition mediated by Hippo signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variants in ALDH1L1 and GLDC influence the serine-to-glycine ratio in Hispanic children., [RefSeq, PubMed]; Glycine Decarboxylase (GLDC) Plays a Crucial Role in Regulating Energy Metabolism, Invasion, Metastasis and Immune Escape for Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The glycine cleavage system catalyzes the degradation of glycine. The P protein (GLDC) binds the alpha-amino group of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then transferred to the lipoamide cofactor of the H protein (GCSH)., [UniProtKB, PubMed, PubMed, PubMed]; We identified a new alternative splicing isoform of GLDC, truncated GLDCV1, and demonstrated that GLDCV1 possesses similar biological activities to GLDCfl on regulating CSCs and tumorigenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2M2F8", "ec_number_list": [ { "id": "1.4.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.4.2", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0030170 pyridoxal phosphate binding;GO:0042803 protein homodimerization activity;GO:0016829 lyase activity;GO:0004375 glycine dehydrogenase (decarboxylating) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005960 glycine cleavage complex", "go_biological_process": "GO:0019464 glycine decarboxylation via glycine cleavage system;GO:0006546 glycine catabolic process;GO:0036255 response to methylamine;GO:1903442 response to lipoic acid", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "P23378-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46976-1", "uniprot_id": [ { "id": "GLYG_HUMAN", "url": "https://www.uniprot.org/uniprot/P46976", "type": "external" } ], "mass": 39384.0, "length": 350, "protein_name": "Glycogenin-1", "gene_name": "GYG1", "organism": "Human", "refseq_name": "glycogenin-1 isoform 2", "refseq_ac": [ { "id": "NP_001171649", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171649", "type": "external" } ], "gene_names_uniprotkb": "GYG1; GYG", "gene_names_refseq": "GSD15; GYG1; GYG", "protein_names_uniprotkb": "Glycogenin-1; 2.4.1.186; GN-1; GN1", "protein_names_refseq": "GN-1; glycogenin glucosyltransferase; glycogenin-1 isoform 2", "tax_id": 9606, "disease": "glycogen storage disease XV (Disease Ontology:DOID:0050579); glycogen storage disease (Disease Ontology:DOID:2747); polyglucosan body myopathy type 2 (MONDO:MONDO:0014526)", "pathway": " (hsa:2992); (R-HSA-3322077); (R-HSA-3785653); (R-HSA-3814836); (R-HSA-3828062); (R-HSA-5357609); (R-HSA-6798695); (R-HSA-70221)", "pathway_count": 8, "publication_count": 89, "publication_id_list": "10395894;10487978;10721716;10949035;11237011;12604216;12825073;12930917;12958597;13115432;14532330;15118078;15592455;15930137;17055998;17928598;18040046;18070875;18323634;19699667;20305658;20357282;20538597;21356517;21767668;22160680;22198226;22223895;22248338;22815132;23301498;23650620;23663739;25272951;25416783;25538239;25544560;26216881;2667896;28904123;29317506;29557506;2961257;30356213;3049072;31154438;31844290;32161166;32162841;32350084;32357974;32983136;33043033;33537174;33592498;33912179;33989636;34087483;34185709;34357683;35051231;35154160;35580925;35690592;35793618;35835870;36010968;36241641;40914422;4829444;5264799;5348606;5427280;5461220;7847371;7902568;8420990;8602861;8613547;8631325;8661012;8692836;8755644;8896567;9346895;9504428;9691087;9771710;9931343", "class_list": "glycogene;glycosyltransferase", "function": "Crystal structure and mutational analysis of the human TRIM7 B30.2 domain provide insights into the molecular basis of its binding to glycogenin-1., [RefSeq, PubMed]; Glycogenin participates in the glycogen biosynthetic process along with glycogen synthase and glycogen branching enzyme. It catalyzes the formation of a short alpha (1,4)-glucosyl chain covalently attached via a glucose 1-O-tyrosyl linkage to internal tyrosine residues and these chains act as primers for the elongation reaction catalyzed by glycogen synthase., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex., [RefSeq, PubMed]; This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 488, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DNH0;D3DNH1;D3DNH2;Q6FHZ1;Q9UNV0", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": 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"2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "2.4.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.18", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0008466 glycogenin glucosyltransferase activity;GO:0030145 manganese ion binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0005978 glycogen biosynthetic process;GO:0160249 glycogen biosynthetic process via UDP-glucose", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "P46976-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.100.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12849-1", "uniprot_id": [ { "id": "GRSF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12849", "type": "external" } ], "mass": 53126.0, "length": 480, "protein_name": "G-rich sequence factor 1", "gene_name": "GRSF1", "organism": "Human", "refseq_name": "G-rich sequence factor 1 isoform 2", "refseq_ac": [ { "id": "NP_001091947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091947", "type": "external" } ], "gene_names_uniprotkb": "GRSF1", "gene_names_refseq": "GRSF1", "protein_names_uniprotkb": "G-rich sequence factor 1; GRSF-1", "protein_names_refseq": "G-rich sequence factor 1 isoform 2; G-rich sequence factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:2926); (R-HSA-192823); (R-HSA-9836573)", "pathway_count": 3, "publication_count": 85, "publication_id_list": "10.1038/emboj.2013.79;11237011;11726970;12239318;15096047;16630668;18669648;19509288;19690332;19864255;20200222;20877624;21406692;22210891;22661577;23221631;23301498;23473033;23473034;23481700;23584533;23741365;24029068;24714562;24715725;25418920;25576301;25683715;26154972;26992070;27846572;27920218;28228285;28510447;28514659;28649982;28832583;28834231;28904123;29146908;29242379;29288125;29366917;29393594;29493099;29557506;29786170;29967381;30046113;30192525;30315122;31217245;31844290;32157095;32357974;32365187;32488085;32502341;32645484;32897882;32938616;32983136;33592498;33691108;33717175;33813277;33912179;33936100;33968037;34019948;34087483;34171305;34229054;34357683;34561969;34932366;35051231;35481630;36215666;36241641;36284347;37923734;38665916;38819377;8036161", "class_list": "", "function": "GRSF-1 functions by selectively recruiting cellular and viral mRNAs containing 5' UTR GRSF-1 binding sites to polyribosomes, which is mediated through interactions with cellular proteins, [RefSeq, PubMed]; GRSF1 antagonizes age-associated hypercoagulability via modulation of fibrinogen mRNA stability. Publication Status: Online-Only, [RefSeq, PubMed]; GRSF1 deficiency attenuates mitochondrial function in aging granulosa cells. Publication Status: Online-Only, [RefSeq, PubMed]; GRSF1 promotes tumorigenesis and EMT-mediated metastasis through PI3K/AKT pathway in gastric cancer., [RefSeq, PubMed]; Identification of the COMM-domain containing protein 1 as specific binding partner for the guanine-rich RNA sequence binding factor 1., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of post-transcriptional mitochondrial gene expression, required for assembly of the mitochondrial ribosome and for recruitment of mRNA and lncRNA. Binds RNAs containing the 14 base G-rich element. Preferentially binds RNAs transcribed from three contiguous genes on the light strand of mtDNA, the ND6 mRNA, and the long non-coding RNAs for MT-CYB and MT-ND5, each of which contains multiple consensus binding sequences (PubMed:23473033, PubMed:23473034, PubMed:29967381). Involved in the degradosome-mediated decay of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381). Acts by unwinding G-quadruplex RNA structures in MT-ncRNA, thus facilitating their degradation by the degradosome (PubMed:29967381). G-quadruplexes (G4) are non-canonical 4 stranded structures formed by transcripts from the light strand of mtDNA (PubMed:29967381)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3KPW0;Q4W5S5;Q6ZST3;Q8IWD6;Q8NBD2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0002151 G-quadruplex RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0042645 mitochondrial nucleoid", "go_biological_process": "GO:0006397 mRNA processing;GO:0008033 tRNA processing;GO:0043484 regulation of RNA splicing;GO:0000957 mitochondrial RNA catabolic process;GO:0000962 positive regulation of mitochondrial RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q12849-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16445-1", "uniprot_id": [ { "id": "GBRA6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16445", "type": "external" } ], "mass": 51024.0, "length": 453, "protein_name": "Gamma-aminobutyric acid receptor subunit alpha-6", "gene_name": "GABRA6", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit alpha-6 precursor", "refseq_ac": [ { "id": "NP_000802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000802", "type": "external" } ], "gene_names_uniprotkb": "GABRA6", "gene_names_refseq": "GABRA6", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit alpha-6; GABA(A) receptor subunit alpha-6; GABAAR subunit alpha-6", "protein_names_refseq": "GABA subunit A receptor alpha 6; GABA(A) receptor subunit alpha-6; GABA(A) receptor, alpha 6; GABAAR subunit alpha-6; gamma-aminobutyric acid (GABA) A receptor, alpha 6; gamma-aminobutyric acid receptor subunit alpha-6 precursor; gamma-aminobutyric acid receptor subunit alpha-6; gamma-aminobutyric acid type A receptor alpha6 subunit", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2559); (R-HSA-977443)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10449790;10542332;11140838;11237011;1315307;1321750;15024690;1664410;16959974;17364682;17398006;18382465;1849271;19828786;20058876;2465923;2847710;29018204;29242379;29557506;32350084;34740144;37217939;8264558;8382267;8391122;8632757;8719414;8719416", "class_list": "", "function": "Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:8632757). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (By similarity). Alpha-6/GABRA6 subunits are found at both synaptic and extrasynaptic sites (PubMed:8632757). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (By similarity). Extrasynaptic alpha-6-containing receptors contribute to the tonic GABAergic inhibition. Alpha-6 subunits are also present on glutamatergic synapses (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients., [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Stress-associated suicide risk is elevated in carriers of the GABRA6 rs3219151 T allele with several independent markers and predictors of suicidal behaviours converging to this increased risk. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K096;Q4VAV2", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0004890 GABA-A receptor activity;GO:0008503 benzodiazepine receptor activity;GO:0022851 GABA-gated chloride ion channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0005254 chloride channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0098794 postsynapse;GO:0034707 chloride channel complex;GO:0032590 dendrite membrane;GO:1902711 GABA-A receptor complex", "go_biological_process": "GO:0007165 signal transduction;GO:0007214 gamma-aminobutyric acid signaling pathway;GO:1902476 chloride transmembrane transport;GO:0051932 synaptic transmission, GABAergic;GO:1904862 inhibitory synapse assembly", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q16445-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14556-1", "uniprot_id": [ { "id": "G3PT_HUMAN", "url": "https://www.uniprot.org/uniprot/O14556", "type": "external" } ], "mass": 44501.0, "length": 408, "protein_name": "Glyceraldehyde-3-phosphate dehydrogenase, testis-specific", "gene_name": "GAPDHS", "organism": "Human", "refseq_name": "glyceraldehyde-3-phosphate dehydrogenase, testis-specific", "refseq_ac": [ { "id": "NP_055179", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055179", "type": "external" } ], "gene_names_uniprotkb": "GAPDHS; GAPD2; GAPDH2; GAPDS; HSD-35; HSD35", "gene_names_refseq": "GAPD2; GAPDH-2; GAPDHS; GAPDS; HEL-S-278; HSD-35", "protein_names_uniprotkb": "Glyceraldehyde-3-phosphate dehydrogenase, testis-specific; 1.2.1.12; GAPDH-2; Spermatogenic cell-specific glyceraldehyde 3-phosphate dehydrogenase 2; Spermatogenic glyceraldehyde-3-phosphate dehydrogenase", "protein_names_refseq": "epididymis secretory protein Li 278; glyceraldehyde-3-phosphate dehydrogenase, testis-specific; spermatogenic cell-specific glyceraldehyde 3-phosphate dehydrogenase 2; spermatogenic glyceraldehyde-3-phosphate dehydrogenase", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:26330); (R-HSA-390471); (R-HSA-70171); (R-HSA-70263)", "pathway_count": 4, "publication_count": 122, "publication_id_list": "10229653;10714828;11237011;11371164;11506403;11780755;11851336;12093795;12437512;12502735;12616532;1278465;12965206;12965222;13538944;14718531;14722102;15710582;16511037;16820410;17804405;18160138;18298375;18337460;183598;18449899;18613815;1871135;18775504;18910716;18910717;18927083;19011634;19118303;21098288;21269272;21949678;21995946;22219026;22223895;23168256;23446454;23481700;23506893;23747015;2462567;24715725;24756126;25342745;25467444;25645385;25648650;26154972;27600516;2793178;2846554;28514659;28832583;29393594;29508533;29557506;2960695;29626473;30517626;30524438;3170585;31844290;3208766;32357974;32387766;32897882;32938616;33214551;3355497;33936100;33968037;34019948;34078123;34211107;34509645;3453121;34782236;35051231;35149585;35154160;3529090;36010968;36215666;36241641;4413246;4555506;4827367;5009693;5687724;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7573034;7717389;7825568;7989588;8117307;8211187;8325892;8447317;8571957;8645161;8786021;9382095;9428641;9438414;9493266;9585002;9657976;9678974;9758626;9819444", "class_list": "", "function": "A Short Isoform of Spermatogenic Enzyme GAPDHS Functions as a Metabolic Switch and Limits Metastasis in Melanoma., [RefSeq, PubMed]; Catalyzes the conversion of D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate in glycolysis and the reverse reaction in gluconeogenesis. May play an important role in regulating the switch between different pathways for energy production during spermiogenesis and in the spermatozoon. Required for sperm motility and male fertility., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; GAPDS overexpression antagonize high glucose-induced apoptosis by controlling reactive oxygen species accumulation in TM3 cells., [RefSeq, PubMed]; This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RC82;O60823;Q6JTT9;Q9HCU6", "ec_number_list": [ { "id": "1.2.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.12", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.45", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.46", "type": "external" }, { "id": "2.6.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.99.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" } ], "go_molecular_function": "GO:0051287 NAD binding;GO:0004365 glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity;GO:0050661 NADP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0006006 glucose metabolic process;GO:0045821 positive regulation of glycolytic process;GO:0006096 glycolytic process", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "O14556-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04062-1", "uniprot_id": [ { "id": "GBA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P04062", "type": "external" } ], "mass": 59716.0, "length": 536, "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "organism": "Human", "refseq_name": "lysosomal acid glucosylceramidase isoform 1 precursor", "refseq_ac": [ { "id": "NP_000148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000148", "type": "external" } ], "gene_names_uniprotkb": "GBA1; GBA; GC; GLUC", "gene_names_refseq": "GBA1; GBA; GCB; GLUC", "protein_names_uniprotkb": "Lysosomal acid glucosylceramidase; 2.4.1.-; 3.2.1.-; 3.2.1.45; 3.2.1.46; Acid beta-glucosidase; Alglucerase; Beta-GC; Beta-glucocerebrosidase; Beta-glucosylceramidase 1; Cholesterol glucosyltransferase; Cholesteryl-beta-glucosidase; D-glucosyl-N-acylsphingosine glucohydrolase; Glucosylceramidase beta 1; Imiglucerase; Lysosomal acid GCase; Lysosomal cholesterol glycosyltransferase; Lysosomal galactosylceramidase; Lysosomal glycosylceramidase; SGTase", "protein_names_refseq": "D-glucosyl-N-acylsphingosine glucohydrolase; SGTase; acid beta-glucosidase; alglucerase; beta-GC; beta-glucocerebrosidase; beta-glucosylceramidase 1; cholesterol glucosyltransferase; cholesteryl-beta-glucosidase; glucosidase, beta, acid; glucosylceramidase-like protein; imiglucerase; lysosomal acid GCase; lysosomal acid glucosylceramidase isoform 1 precursor; lysosomal acid glucosylceramidase; lysosomal cholesterol glycosyltransferase; lysosomal galactosylceramidase; lysosomal glucocerebrosidase; lysosomal glycosylceramidase", "tax_id": 9606, "disease": "Netherton syndrome (Disease Ontology:DOID:0050474); late onset Parkinson's disease (Disease Ontology:DOID:0060892); Parkinsonism (Disease Ontology:DOID:0080855); Gaucher's disease type I (Disease Ontology:DOID:0110957); Gaucher's disease type II (Disease Ontology:DOID:0110958); Gaucher's disease type III (Disease Ontology:DOID:0110959); Gaucher's disease perinatal lethal (Disease Ontology:DOID:0110960); Gaucher's disease type IIIC (Disease Ontology:DOID:0112250); Lewy body dementia (Disease Ontology:DOID:12217); Parkinson's disease (Disease Ontology:DOID:14330); Gaucher's disease (Disease Ontology:DOID:1926); psoriasis (Disease Ontology:DOID:8893)", "pathway": " (hsa:2629); (R-HSA-390471); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 343, "publication_id_list": "10.1101/2023.09.13.557529;10079102;10191093;10196694;10206680;10340647;10352942;10360404;10406958;10447266;10466427;10527671;10636167;10649495;10679038;10685993;10744424;10781797;10796875;10823942;10861246;10942779;10993717;11148530;11350180;11489889;11707436;11784319;11903352;11933202;11992489;12204005;12374214;12476451;12502735;12510003;12518053;12566438;12594539;12595585;12662933;12694238;12754519;12791040;12792654;12838552;12847165;12885774;12888274;12909021;1301953;1333717;1348297;1352293;1352993;1437405;1487244;14994233;15003450;15146461;15213228;15214004;15292921;15458386;1558964;15605411;15690354;15714521;1572652;15773042;15817452;15826241;15845354;15916907;1594045;16148263;16229686;16230343;16293621;1634229;16478472;16517606;16595074;16698036;1670590;1678251;17105727;17139081;1718266;17187079;1720305;1740330;1756715;17620502;17897319;18022370;18332251;1840477;1840600;1848227;18512783;18524657;18541817;18586596;1864608;18775504;1889421;1897529;1899336;19011634;1907800;1915858;19159218;19279011;19286695;19405096;1971142;1972019;1974409;19836391;19846850;2001789;20662857;20728381;21098288;2117855;21995946;22299025;22658918;2269438;22713811;2309702;23266198;23448517;2349952;235289;23747015;2378352;239890;24022302;24190977;24211208;24434810;24577513;2464926;24714562;24756126;2502917;2508065;25333069;25342745;25467444;2562955;2569551;25880248;26154972;26528954;26724485;26992070;2717620;27378698;27600516;27789271;27825739;27846572;27862975;28126847;28218747;28228285;28467828;2880291;28832583;28834231;2914709;29242379;29314611;29317506;29393594;29443946;29493099;29508533;29557506;2960521;29632711;2965147;29692406;2970528;2971395;29741879;29747811;2976757;29769354;29789417;29802621;3001061;30059200;3014515;30192525;30315122;30429286;3048308;30573663;30779550;31020640;31130326;31154438;31217245;31222486;3136930;31495489;3158659;3180993;31827228;31844290;31848261;32125861;32144204;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32547927;32897882;32938616;32983136;33043033;33123756;33298915;33361282;33392160;3353383;33592498;3359914;33691108;33717175;33912179;33968037;33981976;34019948;34106956;34171305;34357683;34433824;34509645;34561969;3456607;34725712;34932366;35051231;35154160;35251023;35254053;35318648;35580925;36010968;36241641;36581221;36776904;3687939;3864160;38641924;38665916;38820021;38924406;39395789;39940;40596516;5135907;5164093;527942;5822067;6091633;7475546;7504405;7627184;7627192;7628016;7655857;7730378;7744740;7789963;7852280;7857677;7908905;7915932;7916532;7981693;8076951;8112750;8118460;8281145;8294033;8294487;8370580;8399327;8432537;8450045;8487270;8516282;8544197;8547070;8573994;8591035;8598642;8663398;8751878;8780099;8790604;8804427;8829654;8829663;8889578;8889591;8929950;8937765;8955159;8985184;9040001;9061570;9153297;9182788;9201993;9217013;9217217;9240741;9279145;9295080;9331372;9338580;9516376;9520418;9521684;9554454;9554746;9637431;9650766;9683600;9819444;9851895;9856561", "class_list": "glycogene;glycosylhydrolase", "function": "Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) into free ceramides (such as N-acylsphing-4-enine) and glucose (PubMed:15916907, PubMed:24211208, PubMed:32144204, PubMed:39395789, PubMed:9201993). Plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698). Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation (PubMed:19279011). Catalyzes the glucosylation of cholesterol, through a transglucosylation reaction where glucose is transferred from GlcCer to cholesterol (PubMed:24211208, PubMed:26724485, PubMed:32144204). GlcCer containing mono-unsaturated fatty acids (such as beta-D-glucosyl-N-(9Z-octadecenoyl)-sphing-4-enine) are preferred as glucose donors for cholesterol glucosylation when compared with GlcCer containing same chain length of saturated fatty acids (such as beta-D-glucosyl-N-octadecanoyl-sphing-4-enine) (PubMed:24211208). Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl 3-beta-D-glucoside to ceramide (Probable) (PubMed:26724485). Can also hydrolyze cholesteryl 3-beta-D-glucoside producing glucose and cholesterol (PubMed:24211208, PubMed:26724485, PubMed:39395789). Catalyzes the hydrolysis of galactosylceramides/GalCers (such as beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine), as well as the transfer of galactose between GalCers and cholesterol in vitro, but with lower activity than with GlcCers (PubMed:32144204). Contrary to GlcCer and GalCer, xylosylceramide/XylCer (such as beta-D-xyosyl-(1<->1')-N-acylsphing-4-enine) is not a good substrate for hydrolysis, however it is a good xylose donor for transxylosylation activity to form cholesteryl 3-beta-D-xyloside (PubMed:33361282). Can also metabolize plant glycosyl phytosterols such as glucosylstigmasterol (PubMed:39395789)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Occupational Pesticide Exposure in Parkinson's Disease Related to GBA and LRRK2 Variants., [RefSeq, PubMed]; The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1., [RefSeq, PubMed]; This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]., [RefSeq]; Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 0, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 722, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 36, "disease_count": 12, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K796;B7Z5G2;B7Z6S1;J3KQG4;J3KQK9;Q16545;Q4VX22;Q6I9R6;Q9UMJ8", "ec_number_list": [ { "id": "1.2.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.12", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.45", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.46", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "3.2.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.21", "type": "external" } ], "go_molecular_function": "GO:0004348 glucosylceramidase activity;GO:0005124 scavenger receptor binding;GO:0008422 beta-glucosidase activity;GO:0005102 signaling receptor binding;GO:0046527 glucosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome;GO:0005764 lysosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006680 glucosylceramide catabolic process;GO:0008203 cholesterol metabolic process;GO:0046513 ceramide biosynthetic process;GO:0061436 establishment of skin barrier;GO:0016241 regulation of macroautophagy", "synthesized_glycan_count": 0, "hit_score": 38.6, "record_id": "P04062-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010000.101.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14653-1", "uniprot_id": [ { "id": "GOSR2_HUMAN", "url": "https://www.uniprot.org/uniprot/O14653", "type": "external" } ], "mass": 24775.0, "length": 212, "protein_name": "Golgi SNAP receptor complex member 2", "gene_name": "GOSR2", "organism": "Human", "refseq_name": "Golgi SNAP receptor complex member 2 isoform C", "refseq_ac": [ { "id": "NP_001012529", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012529", "type": "external" } ], "gene_names_uniprotkb": "GOSR2; GS27", "gene_names_refseq": "Bos1; EPM6; GOSR2; GS27; MYOS", "protein_names_uniprotkb": "Golgi SNAP receptor complex member 2; 27 kDa Golgi SNARE protein; Membrin", "protein_names_refseq": "27 kDa Golgi SNARE protein; Golgi SNAP receptor complex member 2 isoform C; membrin", "tax_id": 9606, "disease": "progressive myoclonus epilepsy 6 (Disease Ontology:DOID:0111449); progressive myoclonus epilepsy (Disease Ontology:DOID:891); muscular dystrophy, congenital, with or without seizures (MONDO:MONDO:0859336)", "pathway": " (hsa:9570); (R-HSA-204005); (R-HSA-381038); (R-HSA-5694530); (R-HSA-6807878); (R-HSA-6811438)", "pathway_count": 6, "publication_count": 230, "publication_id_list": "10052452;10189370;10198168;10318838;10445031;10559958;10559959;10601334;10652252;10652308;10652516;10679020;10747087;10761932;10788476;10825291;10827079;10903204;10921873;10982397;11035026;11035033;11172815;11237011;11285137;11306556;11461920;11689559;11703931;11718716;11726511;11748249;11927603;12011112;12047556;12070132;12204115;12235121;12237308;12383348;12388752;12429822;12634853;14654841;14742712;15037235;15466936;15504911;15616190;15632110;15718469;15728195;15758030;15813748;15878873;16030262;16129679;16303754;1631136;16461360;16495487;16539657;16624868;16633337;16723730;1680566;16912714;16926190;16940185;17005010;17010120;17038314;17192411;17253781;17274799;17287728;17316621;17360540;17429068;17451557;17499046;17562788;17607000;17684057;17760859;17927562;17956946;18025080;18086915;18182008;18256213;18283111;18283113;18287528;18451304;18524849;18664523;18809720;18843296;1898986;19015319;19109418;19164740;19265014;19269366;19296914;19536132;19566487;1957170;19631211;19638414;19656848;19715559;19758564;20163571;20357002;20427317;20477988;20533886;20545907;20637885;20679433;20805473;20874812;20966969;21219331;21282569;21478858;21525241;21532587;21549339;21689688;21807881;21844168;21878990;22013193;22094269;22157747;22188167;22304919;22675024;23091056;23239882;23378023;23378591;23462996;23479643;23698585;23839779;23852824;23864707;23936529;23940353;24119662;24458321;24806965;24917561;25202031;25406594;25418920;25436559;25492864;25586378;25619252;25619253;25708460;27920218;28228285;28649982;28904123;29242379;29855340;30410026;31844290;32157095;32350084;32938616;33592498;33639315;33968037;34167170;34509645;34561969;34779586;35051231;35132965;35561310;35580925;37895210;7590364;7691276;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8663406;8666242;8945478;8991093;9037597;9094723;9114004;9150144;9177194;9244307;9288971;9307973;9323141;9349823;9380700;9382863;9395526;9405360;9450183;9472029;9473480;9476900;9490716;9510256;9647643;9653114;9671725;9707577;9751720;9915833;9990005", "class_list": "", "function": "Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DXJ5;D3DXJ6;Q8N4B8;Q96DA5;Q9BZZ4", "ec_number_list": [], "go_molecular_function": "GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0015031 protein transport;GO:0006906 vesicle fusion;GO:0006891 intra-Golgi vesicle-mediated transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 23.1, "record_id": "O14653-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14764-1", "uniprot_id": [ { "id": "GBRD_HUMAN", "url": "https://www.uniprot.org/uniprot/O14764", "type": "external" } ], "mass": 50708.0, "length": 452, "protein_name": "Gamma-aminobutyric acid receptor subunit delta", "gene_name": "GABRD", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit delta precursor", "refseq_ac": [ { "id": "NP_000806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806", "type": "external" } ], "gene_names_uniprotkb": "GABRD", "gene_names_refseq": "EIG10; EJM7; GABAARdelta; GABRD; GEFSP5", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit delta; GABA(A) receptor subunit delta; GABAAR subunit delta", "protein_names_refseq": "GABA(A) receptor subunit delta; GABA(A) receptor, delta; GABA-A receptor, delta polypeptide; GABAAR subunit delta; gamma-aminobutyric acid (GABA) A receptor, delta; gamma-aminobutyric acid receptor subunit delta precursor; gamma-aminobutyric acid receptor subunit delta; gamma-aminobutyric acid type A receptor delta subunit", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); obsolete idiopathic generalized epilepsy 10 (Disease Ontology:DOID:0111292); epilepsy (Disease Ontology:DOID:1826); postpartum depression (Disease Ontology:DOID:9478); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:2563)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15115768;16023832;24715725;27864847;27932480;29557506;30429286;31848261;32387766;33912179;35051231;35254053;35355020;36614162;36804572;36923530;37129290;37938771", "class_list": "", "function": "Association of GABA receptor delta subunit gene variations with increased risk of methamphetamine dependence., [RefSeq, PubMed]; Delta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:35355020). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (PubMed:35355020). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:35355020). GABAARs containing delta/GABRD subunits are predominantly located in extrasynaptic or perisynaptic positions on hippocampus and cerebellar granule cells, and contribute to the tonic GABAergic inhibition (By similarity). GABAAR containing alpha-4-beta-3-delta subunits can simultaneously bind GABA and histamine where histamine binds at the interface of two neighboring beta subunits, which may be involved in the regulation of sleep and wakefulness (PubMed:35355020)., [UniProtKB, UniProtKB, PubMed]; Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Splice-Site Variants in the Gene Encoding GABA-A Receptor Delta Subunit Are Associated with Amphetamine Use in Patients under Methadone Maintenance Treatment. Publication Status: Online-Only, [RefSeq, PubMed]; The delta subunit of the GABAA receptor is necessary for the GPT2-promoted breast cancer metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q8N4N9", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0005254 chloride channel activity;GO:0004890 GABA-A receptor activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0004888 transmembrane signaling receptor activity;GO:0005230 extracellular ligand-gated monoatomic ion channel activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0007165 signal transduction;GO:0007214 gamma-aminobutyric acid signaling pathway;GO:1902476 chloride transmembrane transport;GO:0051932 synaptic transmission, GABAergic;GO:0160001 extrasynaptic signaling via GABA", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "O14764-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CG08-1", "uniprot_id": [ { "id": "GPHRB_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG08", "type": "external" } ], "mass": 52917.0, "length": 455, "protein_name": "Golgi pH regulator B", "gene_name": "GPHRB; GPR89B", "organism": "Human", "refseq_name": "Golgi pH regulator A isoform 1", "refseq_ac": [ { "id": "NP_001091081", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091081", "type": "external" } ], "gene_names_uniprotkb": "GPHRB; GPR89B; GPHR; GPR89B; GPR89C; GPR89; HSPC201; SH120", "gene_names_refseq": "GPHRA; GPHR; GPR89A; GPR89; SH120; UNQ192", "protein_names_uniprotkb": "Golgi pH regulator B; Protein GPR89B", "protein_names_refseq": "G protein-coupled receptor 89A; Golgi pH regulator A isoform 1; protein GPR89; putative MAPK-activating protein PM01; putative NF-kappa-B-activating protein 90", "tax_id": 9606, "disease": "", "pathway": " (hsa:51463); (hsa:653519)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "11237011;18794847;19135895;26992070;27862975;29437277;30315122;32157095;32161166;34725712;34932366;35051231;36010968;36241641", "class_list": "", "function": "Voltage-gated channel that enables the transfer of anions such as iodide, chloride, bromide and fluoride which may function in counter-ion conductance and participates in Golgi acidification (PubMed:18794847). Plays a role in lymphocyte development, probably by acting as a RABL3 effector in hematopoietic cells (By similarity). Essential for maintaining the acidic luminal pH of the Golgi apparatus in neurons, which is important for preserving Golgi structural integrity (By similarity). This integrity supports proper axonal transport and synaptic maintenance in cerebellar inhibitory neurons, including Purkinje and basket cells (By similarity). Additionally, Golgi acidification facilitates the activation of SREBP2, thereby ensuring sufficient cholesterol biosynthesis necessary for normal neuronal morphology and function (By similarity)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NKF9;A6NN37;B2RUV3;B3KMN3;Q53FQ9;Q5T2V8;Q5T5P5;Q659E2;Q6NVY5;Q9P0S4;Q9Y302", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0008308 voltage-gated monoatomic anion channel activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0032580 Golgi cisterna membrane;GO:0034702 monoatomic ion channel complex;GO:0016020 membrane", "go_biological_process": "GO:0015031 protein transport;GO:0030217 T cell differentiation;GO:0051452 intracellular pH reduction", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P0CG08-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95864-1", "uniprot_id": [ { "id": "FADS2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95864", "type": "external" } ], "mass": 52259.0, "length": 444, "protein_name": "Acyl-CoA 6-desaturase", "gene_name": "FADS2", "organism": "Human", "refseq_name": "acyl-CoA 6-desaturase isoform 2 precursor", "refseq_ac": [ { "id": "NP_001268430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430", "type": "external" } ], "gene_names_uniprotkb": "FADS2", "gene_names_refseq": "D6D; DES6; FADS2; FADSD6; LLCDL2; SLL0262; TU13", "protein_names_uniprotkb": "Acyl-CoA 6-desaturase; 1.14.19.3; D6D; Delta(6) desaturase; Delta(6) fatty acid desaturase; Delta-6 desaturase; Fatty acid desaturase 2", "protein_names_refseq": "acyl-CoA 6-desaturase isoform 2 precursor; acyl-CoA 6-desaturase; delta-6 fatty acid desaturase; linoleoyl-CoA desaturase (delta-6-desaturase)-like 2", "tax_id": 9606, "disease": "osteoporosis (Disease Ontology:DOID:11476); dilated cardiomyopathy (Disease Ontology:DOID:12930); alcohol use disorder (Disease Ontology:DOID:1574); lipid metabolism disorder (Disease Ontology:DOID:3146); discrete subaortic stenosis (Disease Ontology:DOID:5804); congestive heart failure (Disease Ontology:DOID:6000); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:9415); (R-HSA-2046105); (R-HSA-2046106)", "pathway_count": 3, "publication_count": 132, "publication_id_list": "10601301;10769175;10860662;10899997;10970790;11237011;11500517;11734571;11988075;12147235;12323085;12323090;12562861;12713571;12716664;12851727;12897190;1346092;14636670;16303743;1834642;18538142;18991276;19056654;22009320;22424782;23481700;24366607;24714562;24715725;25418920;25469497;25502872;25576301;25645385;25802875;25892735;26154972;26375851;26728094;26811146;26992070;27397612;27543614;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30524438;30568303;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33717175;33912179;33936100;33968037;34078123;34171305;34185709;34357683;34509645;34561969;34725712;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36241641;36284347;36581221;37938771;38316767;38566550;38665916;38849435;38860387;38926633;5411545;7061494;8096621;8609415;8656081;8832760;9684854;9704073;9732298;9867867", "class_list": "", "function": "Brain tissue- and cell type-specific eQTL Mendelian randomization reveals efficacy of FADS1 and FADS2 on cognitive function. Publication Status: Online-Only, [RefSeq, PubMed]; Data indicate that the 5'-flanking region of the human D6D gene contains a DR-1 that functions in the regulation of human D6D gene transcription, and thereby plays a role in the synthesis of 20- and 22-carbon polyenoic fatty acids, [RefSeq, PubMed]; FADS1/2 control lipid metabolism and ferroptosis susceptibility in triple-negative breast cancer., [RefSeq, PubMed]; FADS2 confers SCD1 inhibition resistance to cancer cells by modulating the ER stress response. Publication Status: Online-Only, [RefSeq, PubMed]; High Frequency of Ancestral Haplotype A of Fatty Acid Desaturase Genes in the Yakut Population., [RefSeq, PubMed]; Impact of FADS genotype on polyunsaturated fatty acid content in human milk extracellular vesicles: A genetic association study., [RefSeq, PubMed]; Involved in the biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors, acting as a fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 6 of the fatty acyl chain. Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleate (GLA) (18:3n-6) and stearidonate (18:4n-3), respectively (PubMed:12713571). Subsequently, in the biosynthetic pathway of HUFA n-3 series, it desaturates tetracosapentaenoate (24:5n-3) to tetracosahexaenoate (24:6n-3), which is then converted to docosahexaenoate (DHA)(22:6n-3), an important lipid for nervous system function (By similarity). Desaturates hexadecanate (palmitate) to produce 6Z-hexadecenoate (sapienate), a fatty acid unique to humans and major component of human sebum, that has been implicated in the development of acne and may have potent antibacterial activity (PubMed:12713571). It can also desaturate (11E)-octadecenoate (trans-vaccenoate, the predominant trans fatty acid in human milk) at carbon 6 generating (6Z,11E)-octadecadienoate (By similarity). In addition to Delta-6 activity, this enzyme exhibits Delta-8 activity with slight biases toward n-3 fatty acyl-CoA substrates (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Meication of suppression by highly unsaturated fatty acids mediated by E-box like sterol regulatory element, [RefSeq, PubMed]; The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K2M6;B7Z634;Q6MZQ7;Q96H07;Q96SV8;Q9H3G3;Q9Y3X4", "ec_number_list": [ { "id": "1.14.19.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.3", "type": "external" } ], "go_molecular_function": "GO:0004768 stearoyl-CoA 9-desaturase activity;GO:0016213 acyl-CoA 6-desaturase activity;GO:0016717 oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0036109 alpha-linolenic acid metabolic process;GO:0043651 linoleic acid metabolic process;GO:0006636 unsaturated fatty acid biosynthetic process;GO:1900409 positive regulation of cellular response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "O95864-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68CZ1-1", "uniprot_id": [ { "id": "FTM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68CZ1", "type": "external" } ], "mass": 151201.0, "length": 1315, "protein_name": "Protein fantom", "gene_name": "RPGRIP1L", "organism": "Human", "refseq_name": "protein fantom isoform b", "refseq_ac": [ { "id": "NP_001121369", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121369", "type": "external" } ], "gene_names_uniprotkb": "RPGRIP1L; FTM; KIAA1005; NPHP8", "gene_names_refseq": "COACH3; CORS3; FTM; JBTS7; MKS5; NPHP8; PPP1R134; RPGRIP1L", "protein_names_uniprotkb": "Protein fantom; Nephrocystin-8; RPGR-interacting protein 1-like protein; RPGRIP1-like protein", "protein_names_refseq": "RPGR-interacting protein 1-like protein; fantom homolog; nephrocystin-8; protein fantom isoform b; protein fantom; protein phosphatase 1, regulatory subunit 134", "tax_id": 9606, "disease": "cerebellar ataxia (Disease Ontology:DOID:0050753); Meckel syndrome (Disease Ontology:DOID:0050778); ciliopathy (Disease Ontology:DOID:0060340); anencephaly (Disease Ontology:DOID:0060668); Meckel syndrome 5 (Disease Ontology:DOID:0070119); retinitis pigmentosa 3 (Disease Ontology:DOID:0110414); Joubert syndrome 7 (Disease Ontology:DOID:0111002); intellectual disability (Disease Ontology:DOID:1059); nephronophthisis (Disease Ontology:DOID:12712); cystic kidney disease (Disease Ontology:DOID:2975); vascular dementia (Disease Ontology:DOID:8725); COACH syndrome 3 (MONDO:MONDO:0030862)", "pathway": " (hsa:23322); (R-HSA-5610787); (R-HSA-5620912)", "pathway_count": 3, "publication_count": 165, "publication_id_list": "10966113;11237011;11375483;12192414;12435627;14603322;15087129;15930098;16061793;16136078;16229832;16254602;16311594;16339192;16357211;16396903;16493421;16707575;17027958;17200122;17434869;17442700;17553904;17558407;17558409;17574030;17641202;17646400;17719545;17762891;17960137;17960139;18037885;18327258;18452278;18455992;18694559;18801063;18832070;19000668;19004860;19081074;19196978;19223390;19286674;19365551;19430481;19464661;19549984;19574260;19592253;19666503;19767740;19776033;19877275;19906846;19940019;19948480;19996169;20067783;20154143;20207148;20230748;20308558;20395968;20399632;20412786;20460306;20558667;20844016;20889716;20956384;2105456;21209331;21258341;21273506;21422230;21548880;21565611;21620453;21685204;21695114;21725307;21792235;21801010;22007132;22179047;22231273;22391300;22433857;22653444;22693042;22927466;23141531;23141541;23209152;23253480;23332756;23348840;23400999;23530209;23719536;23747070;23769972;23789104;24053599;24089205;24231678;24302888;24339784;24469809;24845016;24863049;24917297;24925320;24952464;24982133;25047611;25313408;25576301;26154972;26811146;26992070;27600516;27862975;28411811;28834231;28904123;29242379;29437277;29493099;29557506;29786170;30410026;30429286;31844290;32157095;32357974;32387766;32488085;32897882;32938616;33141586;33298915;33537174;33592498;33691108;33717175;33808286;33912179;33968037;33981976;34171305;34211107;34405274;34509645;35051231;35233738;35318648;35561310;36010968;36284347;36581221;37340703;39894887", "class_list": "", "function": "Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family., [RefSeq, PubMed]; Mutations can cause the multiorgan phenotypic abnormalities found in cerebello-oculo-renal syndrome or Meckel syndrome., [RefSeq, PubMed]; Negatively regulates signaling through the G protein-coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis (PubMed:19464661). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity)., [UniProtKB, UniProtKB, PubMed]; Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis. Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins. Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Responsible for Joubert syndrome, affecting cilia and basal bodies., [RefSeq, PubMed]; The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0PJ88;Q9Y2K8", "ec_number_list": [], "go_molecular_function": "GO:0031870 thromboxane A2 receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005911 cell-cell junction;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0045744 negative regulation of G protein-coupled receptor signaling pathway;GO:0046548 retinal rod cell development;GO:1905515 non-motile cilium assembly;GO:1904491 protein localization to ciliary transition zone;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q68CZ1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46459-1", "uniprot_id": [ { "id": "NSF_HUMAN", "url": "https://www.uniprot.org/uniprot/P46459", "type": "external" } ], "mass": 82594.0, "length": 744, "protein_name": "Vesicle-fusing ATPase", "gene_name": "NSF", "organism": "Human", "refseq_name": "vesicle-fusing ATPase", "refseq_ac": [ { "id": "NP_006169", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006169", "type": "external" } ], "gene_names_uniprotkb": "NSF", "gene_names_refseq": "DEE96; NSF; SEC18; SKD2", "protein_names_uniprotkb": "Vesicle-fusing ATPase; 3.6.4.6; N-ethylmaleimide-sensitive fusion protein; NEM-sensitive fusion protein; Vesicular-fusion protein NSF", "protein_names_refseq": "N-ethylmaleimide-sensitive factor-like protein; N-ethylmaleimide-sensitive fusion protein; NEM-sensitive fusion protein; epididymis secretory sperm binding protein; vesicle-fusing ATPase; vesicular-fusion protein NSF", "tax_id": 9606, "disease": "oculocutaneous albinism (Disease Ontology:DOID:0050632); autism spectrum disorder (Disease Ontology:DOID:0060041); developmental and epileptic encephalopathy 96 (Disease Ontology:DOID:0070377); Parkinson's disease (Disease Ontology:DOID:14330); epilepsy (Disease Ontology:DOID:1826); temporal lobe epilepsy (Disease Ontology:DOID:3328); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:4905); (R-HSA-204005); (R-HSA-416993); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811438); (R-HSA-6811440)", "pathway_count": 7, "publication_count": 290, "publication_id_list": "10052452;10189370;10209123;10318838;10445031;10559959;10637310;10652308;10652516;10679020;10747087;10761932;10788476;10825291;10865125;10903204;10921873;10982397;10990452;11035026;11035033;11172815;11237011;11285137;11303027;11306556;11346801;11359012;11461920;11493604;11689439;11689559;11703931;11718716;11726511;11739780;11748249;11827983;11839770;11927603;12011112;12047556;12070132;12235121;12377769;12383348;12388752;12429822;12620188;12620189;12634853;14504276;14580338;14654841;14718928;14742712;15029241;15037235;15077113;15077114;15128430;15269279;15272311;15322554;15483056;15504911;15616190;15632110;15654769;15718469;15728195;15758030;15813748;15870108;15878329;15878873;16030262;16042553;16055064;16129887;16303754;1631136;16495487;16571679;16624868;16633337;16723730;1680566;16885419;16912714;16926190;16936697;16940185;17005010;17038314;17113389;17192411;17253781;17274799;17287728;17316621;17360540;17429068;17451557;17488291;17562788;17684057;17698061;17760859;17927562;17956946;18067682;18086915;18182008;18195106;18243103;18256213;18283113;18287528;18367545;18451304;18524849;18664496;18809720;18843296;18946081;1898986;19015319;19109418;19151722;19164740;19296914;19369418;19490898;19536132;1957170;19620288;19631211;19638414;19656848;19715559;19758564;20005805;20068231;20136777;20163571;20357002;20427317;20462495;20534429;20545907;20637885;20679433;20685960;20874812;20962217;20966969;21183348;21219331;21421921;21436057;21478858;21532587;21550981;21689688;21807881;21844168;22013193;22094269;22157747;22188167;22304919;22335553;22354037;22581368;22675024;22717455;23091056;23186163;23239882;23378023;23378591;23396477;23437303;23462996;23479643;23698585;23839779;23864707;23936529;23940353;24119662;24794632;24806965;24917561;25202031;25343031;25364732;25406594;25436559;25492864;25502872;25576301;25586378;25619252;25645385;25708460;26375851;26758690;26992070;27452731;27726376;27846572;28467828;28834231;29242379;29314611;29493099;29557506;29632711;29789417;30573663;30779550;31154438;31675180;31844290;32157095;32161166;32350084;32387766;33043033;33298915;33392160;33592498;33717175;33968037;33981976;34019948;34229054;34357683;34725712;35051231;35138101;35154160;35251023;35561310;35580925;36241641;36284347;38665916;7691276;7844144;7909812;8001155;8128252;8132710;8221884;8253837;8440258;8505331;8620540;8636227;8663406;8670882;8945478;8991093;9050864;9094723;9114004;9150144;9177194;9230071;9244307;9288971;9307973;9323141;9380700;9382863;9405360;9476900;9490716;9510256;9590177;9647643;9653114;9671725;9707577;9751720;9915833;9990005", "class_list": "", "function": "De novo NSF mutations cause early infantile epileptic encephalopathy., [RefSeq, PubMed]; Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K2D9;B4DFA2;Q8N6D7;Q9UKZ2", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0043198 dendritic shaft;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0035494 SNARE complex disassembly;GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:0001921 positive regulation of receptor recycling;GO:0043001 Golgi to plasma membrane protein transport", "synthesized_glycan_count": 0, "hit_score": 29.3, "record_id": "P46459-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28070-1", "uniprot_id": [ { "id": "PSB4_HUMAN", "url": "https://www.uniprot.org/uniprot/P28070", "type": "external" } ], "mass": 29204.0, "length": 264, "protein_name": "Proteasome subunit beta type-4", "gene_name": "PSMB4", "organism": "Human", "refseq_name": "proteasome subunit beta type-4", "refseq_ac": [ { "id": "NP_002787", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002787", "type": "external" } ], "gene_names_uniprotkb": "PSMB4; PROS26", "gene_names_refseq": "HN3; HsN3; PRAAS3; PROS-26; PROS26; PSMB4", "protein_names_uniprotkb": "Proteasome subunit beta type-4; 26 kDa prosomal protein; HsBPROS26; HsN3; Macropain beta chain; Multicatalytic endopeptidase complex beta chain; PROS-26; Proteasome beta chain; Proteasome chain 3; Proteasome subunit beta-7; beta-7", "protein_names_refseq": "26 kDa prosomal protein; beta-7; hsBPROS26; macropain beta chain; multicatalytic endopeptidase complex beta chain; proteasome (prosome, macropain) subunit, beta type, 4; proteasome beta chain; proteasome chain 3; proteasome subunit HsN3; proteasome subunit beta 4; proteasome subunit beta type-4; proteasome subunit beta-7; proteasome subunit beta7; proteasome subunit, beta type, 4; testis tissue sperm-binding protein Li 79P", "tax_id": 9606, "disease": "proteasome-associated autoinflammatory syndrome 3 (Disease Ontology:DOID:0060916)", "pathway": " (hsa:5692); (R-HSA-1169091); (R-HSA-1234176); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-174084); (R-HSA-174113); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-180534); (R-HSA-180585); (R-HSA-187577); (R-HSA-195253); (R-HSA-202424); (R-HSA-211733); (R-HSA-2467813); (R-HSA-2871837); (R-HSA-349425); (R-HSA-350562); (R-HSA-382556); (R-HSA-450408); (R-HSA-4608870); (R-HSA-4641257); (R-HSA-4641258); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5632684); (R-HSA-5658442); (R-HSA-5668541); (R-HSA-5676590); (R-HSA-5678895); (R-HSA-5687128); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-68867); (R-HSA-68949); (R-HSA-69017); (R-HSA-69481); (R-HSA-69601); (R-HSA-75815); (R-HSA-8852276); (R-HSA-8854050); (R-HSA-8939236); (R-HSA-8939902); (R-HSA-8941858); (R-HSA-8948751); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9020702); (R-HSA-9604323); (R-HSA-9755511); (R-HSA-9762114); (R-HSA-9766229); (R-HSA-9824272); (R-HSA-983168); (R-HSA-9907900); (R-HSA-9912633); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 69, "publication_count": 1080, "publication_id_list": 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"class_list": "", "function": "Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2R9L3;P31148;Q5SZS5;Q6IBI4;Q969L6", "ec_number_list": [], "go_molecular_function": "GO:0001530 lipopolysaccharide binding", "go_cellular_component": "GO:0034515 proteasome storage granule;GO:0019774 proteasome core complex, beta-subunit complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0045061 thymic T cell selection;GO:0045063 T-helper 1 cell differentiation;GO:0071357 cellular response to type I interferon;GO:0043374 CD8-positive, alpha-beta T cell differentiation;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 108.9, "record_id": "P28070-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBS5-1", "uniprot_id": [ { "id": "GABR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBS5", "type": "external" } ], "mass": 108320.0, "length": 961, "protein_name": "Gamma-aminobutyric acid type B receptor subunit 1", "gene_name": "GABBR1", "organism": "Human", "refseq_name": "gamma-aminobutyric acid type B receptor subunit 1 isoform k", "refseq_ac": [ { "id": "NP_001305982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305982", "type": "external" } ], "gene_names_uniprotkb": "GABBR1; GPRC3A", "gene_names_refseq": "GABABR1; GABBR1-3; GABBR1; GB1; GPRC3A; NEDLC", "protein_names_uniprotkb": "Gamma-aminobutyric acid type B receptor subunit 1; GABA-B receptor 1; GABA-B-R1; GABA-BR1; GABABR1; Gb1", "protein_names_refseq": "GABA-B receptor, R1 subunit; gamma-aminobutyric acid (GABA) B receptor, 1; gamma-aminobutyric acid type B receptor subunit 1 isoform k; seven transmembrane helix receptor", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); hypertension (Disease Ontology:DOID:10763); amphetamine abuse (Disease Ontology:DOID:670); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976); neurodevelopmental disorder with language delay and variable cognitive abnormalities (MONDO:MONDO:0957779)", "pathway": " (hsa:2550); (R-HSA-1296041); (R-HSA-418594); (R-HSA-420499); (R-HSA-977444); (R-HSA-997272)", "pathway_count": 6, "publication_count": 75, "publication_id_list": "10075644;10402495;10773016;10906333;11007482;11208605;11237011;11917125;12120503;1329206;14718537;14759258;15194188;15576628;15617512;15951850;16634148;16923326;17081983;17185339;18165688;18434541;18577758;20022913;20068231;20453851;20555319;20643921;20655490;21124972;21148030;22660477;23121374;23674604;24235081;24305054;2534964;25576301;27071541;2748346;2834384;29393594;29557506;29614098;31154438;31844290;32350084;32983136;34171305;35051231;35251023;35580925;35909813;36103875;7476890;7617140;7620613;7623957;7759551;7908515;7937899;8015379;8406495;8887960;9131252;9144337;9144651;9473604;9753614;9798068;9844003;9872316;9872744;9889352;9933300", "class_list": "", "function": "Component of a heterodimeric G protein-coupled receptor for GABA, formed by GABBR1 and GABBR2 (PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054, PubMed:36103875, PubMed:9872316, PubMed:9872744). Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins (PubMed:18165688). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase (PubMed:10075644, PubMed:10773016, PubMed:10906333, PubMed:24305054, PubMed:9872744). Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis (PubMed:10075644). Calcium is required for high affinity binding to GABA (By similarity). Plays a critical role in the fine-tuning of inhibitory synaptic transmission (PubMed:9844003). Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials (PubMed:10075644, PubMed:22660477, PubMed:9844003, PubMed:9872316, PubMed:9872744). Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception (Probable). Activated by (-)-baclofen, cgp27492 and blocked by phaclofen (PubMed:24305054, PubMed:9844003, PubMed:9872316)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Data suggest that the GABAB1 intron 4 containing N-terminal truncation is necessary for the inhibitory action of the new splice variants. Publication Status: Online-Only, [RefSeq, PubMed]; GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy., [RefSeq, PubMed]; Isoform 1E may regulate the formation of functional GABBR1/GABBR2 heterodimers by competing for GABBR2 binding. This could explain the observation that certain small molecule ligands exhibit differential affinity for central versus peripheral sites., [UniProtKB]; Phosphonate-Modified Cellulose Nanocrystals Potentiate the Th1 Polarising Capacity of Monocyte-Derived Dendritic Cells via GABA-B Receptor. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B0UXY7;O95375;O95468;O95975;O96022;Q5STL4;Q5SUJ8;Q5SUL3;Q71SG6;Q86W60;Q9UQQ0", "ec_number_list": [], "go_molecular_function": "GO:1990430 extracellular matrix protein binding;GO:0046982 protein heterodimerization activity;GO:0099579 G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential;GO:0004965 G protein-coupled GABA receptor activity;GO:0150047 G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0008285 negative regulation of cell population proliferation;GO:0035094 response to nicotine;GO:0045471 response to ethanol;GO:0007214 gamma-aminobutyric acid signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9UBS5-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PY6-1", "uniprot_id": [ { "id": "NEK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PY6", "type": "external" } ], "mass": 142828.0, "length": 1258, "protein_name": "Serine/threonine-protein kinase Nek1", "gene_name": "NEK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase Nek1 isoform 1", "refseq_ac": [ { "id": "NP_001186326", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186326", "type": "external" } ], "gene_names_uniprotkb": "NEK1; KIAA1901", "gene_names_refseq": "ALS24; NEK1; NY-REN-55; OFD2; SRPS2A; SRPS2; SRTD6", "protein_names_uniprotkb": "Serine/threonine-protein kinase Nek1; 2.7.11.1; Never in mitosis A-related kinase 1; NimA-related protein kinase 1; Renal carcinoma antigen NY-REN-55", "protein_names_refseq": "NIMA (never in mitosis gene a)-related kinase 1; never in mitosis A-related kinase 1; nimA-related protein kinase 1; protein-serine/threonine kinase; renal carcinoma antigen NY-REN-55; serine/threonine-protein kinase Nek1 isoform 1; serine/threonine-protein kinase Nek1", "tax_id": 9606, "disease": "asphyxiating thoracic dystrophy (Disease Ontology:DOID:0050592); orofaciodigital syndrome II (Disease Ontology:DOID:0060959); amyotrophic lateral sclerosis type 24 (Disease Ontology:DOID:0081378); short-rib thoracic dysplasia 6 with or without polydactyly (Disease Ontology:DOID:0110092); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861)", "pathway": " (hsa:4750); (R-HSA-9861718)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10.1101/2023.09.13.557529;10508479;11237011;14690447;15345747;15604234;17344846;18387606;18669648;18691976;18843199;19369195;19413330;19664994;20230784;21211617;22499340;23186163;24275569;24714562;24715725;25892735;26167768;26375851;26945885;27455347;27530628;27920218;28426283;28710492;28832583;28834231;28904123;29242379;29557506;29769354;29911972;30737777;31530632;31735643;31844290;31998317;32157095;32161166;32387766;32488085;32905878;32938616;33462636;33691108;33912179;33968037;35051231;35580925;36010968;36443167;37188479;37217939;39032803;39227882;39302247;7757881", "class_list": "", "function": "ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons. Publication Status: Online-Only, [RefSeq, PubMed]; Association between NEK1 gene polymorphisms and the potential risk of sporadic Parkinson's disease in the Chinese Northern Han population: A case-control study., [RefSeq, PubMed]; Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic and clinical characteristics of ALS patients with NEK1 gene variants., [RefSeq, PubMed]; Mapping studies of NEK1 regulatory domain indicate interaction with most of the proteins known to take part in etiology of polycystic kidney disease, in double-strand DNA break repair at the G2/M cell-cycle transition phase, or in neural cell development., [RefSeq, PubMed]; Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (PubMed:20230784). Involved in DNA damage checkpoint control and for proper DNA damage repair (PubMed:20230784). In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death (PubMed:20230784). May be implicated in the control of meiosis (By similarity). Involved in cilium assembly (PubMed:21211617)., [UniProtKB, PubMed, PubMed, UniProtKB]; The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "G5E9Z3;Q05DG5;Q14CB7;Q5H9T1;Q6PIB8;Q96SS2;Q9H6P7;Q9Y594", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "1.1.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.40", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0051301 cell division;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q96PY6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60353-1", "uniprot_id": [ { "id": "FZD6_HUMAN", "url": "https://www.uniprot.org/uniprot/O60353", "type": "external" } ], "mass": 79292.0, "length": 706, "protein_name": "Frizzled-6", "gene_name": "FZD6", "organism": "Human", "refseq_name": "frizzled-6 isoform a precursor", "refseq_ac": [ { "id": "NP_001158087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158087", "type": "external" } ], "gene_names_uniprotkb": "FZD6", "gene_names_refseq": "FZ-6; FZ6; FZD6; HFZ6; NDNC10; NDNC1", "protein_names_uniprotkb": "Frizzled-6; Fz-6; hFz6", "protein_names_refseq": "frizzled 6, seven transmembrane spanning receptor; frizzled family receptor 6; frizzled homolog 6; frizzled-6 isoform a precursor; seven transmembrane helix receptor", "tax_id": 9606, "disease": "nonsyndromic congenital nail disorder 1 (Disease Ontology:DOID:0080079); nonsyndromic congenital nail disorder (Disease Ontology:DOID:0080683)", "pathway": " (hsa:8323); (R-HSA-373080); (R-HSA-4086398); (R-HSA-4086400); (R-HSA-4641263); (R-HSA-5340588)", "pathway_count": 6, "publication_count": 177, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10097073;10380924;10391246;10391247;10395542;10488343;10588714;10698942;10777564;10858654;10862746;11015615;11030334;11101902;11237011;11297558;11358862;11563835;11707601;11751577;11779461;12015605;12015986;12086864;12098667;12134165;12471263;12482967;12533515;12556497;12559132;12729560;12839624;12975316;14636582;14704854;14747478;14977528;15143170;15169958;15492824;15494017;15498814;15501440;15545263;15608632;15611108;15936275;16109882;16116452;16280981;16357527;16495441;16602827;16723543;16880514;16920709;16971168;17021034;17086209;17130287;17320548;17373907;17400545;17426020;17433286;17627283;17684012;17804805;18162551;18215320;18256687;18456304;18488142;18669648;18719708;18798527;18801728;19177143;19365405;19523939;19530173;19536106;19589360;19851316;20004982;20006983;20495530;20803696;20940229;20966082;21118996;21316585;21665003;21693646;21727895;21903638;21909076;22045688;22575959;22773843;22895187;22941947;23109420;23140633;23144463;23151663;23256519;23396967;23416699;23584533;23632248;23821037;23847203;23904219;25502872;25576301;25813380;26590425;2841328;28904123;29242379;29393594;29557506;29632711;29671580;29769354;30309985;30315122;30459171;30524438;31530632;32157095;32161166;32350084;32357974;32897882;32938616;33298915;33497493;33537174;33592498;33912179;33968037;33981976;34171305;34185709;34357683;34932366;35051231;35154160;35580925;3616618;36215666;36241641;36368445;37401642;38253038;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9064337;9073455;9389482;9480858;9674432;9716412", "class_list": "", "function": "A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a Moroccan family., [RefSeq, PubMed]; FZD6 Promotes Melanoma Cell Invasion but Not Proliferation by Regulating Canonical Wnt Signaling and Epithelial-Mesenchymal Transition., [RefSeq, PubMed]; FZD6 triggers Wnt-signalling driven by WNT10B(IVS1) expression and highlights new targets in T-cell acute lymphoblastic leukemia., [RefSeq, PubMed]; Frizzled 6 (HFz6) has a role as a negative regulator of the canonical Wnt. beta-catenin signaling cascade, [RefSeq, PubMed]; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Together with FZD3, is involved in the neural tube closure and plays a role in the regulation of the establishment of planar cell polarity (PCP), particularly in the orientation of asymmetric bundles of stereocilia on the apical faces of a subset of auditory and vestibular sensory cells located in the inner ear (By similarity)., [UniProtKB, UniProtKB]; This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B4DRN0;Q6N0A5;Q6P9C3;Q8WXR9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0031625 ubiquitin protein ligase binding;GO:0017147 Wnt-protein binding;GO:0042813 Wnt receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0005789 endoplasmic reticulum membrane;GO:0016324 apical plasma membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0060070 canonical Wnt signaling pathway;GO:0060071 Wnt signaling pathway, planar cell polarity pathway;GO:1904693 midbrain morphogenesis", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "O60353-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P80404-1", "uniprot_id": [ { "id": "GABT_HUMAN", "url": "https://www.uniprot.org/uniprot/P80404", "type": "external" } ], "mass": 56439.0, "length": 500, "protein_name": "4-aminobutyrate aminotransferase, mitochondrial", "gene_name": "ABAT", "organism": "Human", "refseq_name": "4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_000654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000654", "type": "external" } ], "gene_names_uniprotkb": "ABAT; GABAT", "gene_names_refseq": "ABAT; GABA-AT; GABAT; NPD009", "protein_names_uniprotkb": "4-aminobutyrate aminotransferase, mitochondrial; (S)-3-amino-2-methylpropionate transaminase; 2.6.1.19; 2.6.1.22; GABA aminotransferase; GABA transaminase; GABA-AT; GABA-T; Gamma-amino-N-butyrate transaminase; L-AIBAT", "protein_names_refseq": "(S)-3-amino-2-methylpropionate transaminase; 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor; 4-aminobutyrate aminotransferase, mitochondrial; 4-aminobutyrate transaminase; GABA aminotransferase; GABA transaminase; GABA transferase; gamma-amino-N-butyrate transaminase; gamma-aminobutyrate aminotransferase", "tax_id": 9606, "disease": "West syndrome (Disease Ontology:DOID:0050562); GABA aminotransferase deficiency (Disease Ontology:DOID:0060174); Parkinsonism (Disease Ontology:DOID:0080855); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); Huntington's disease (Disease Ontology:DOID:12858); depressive disorder (Disease Ontology:DOID:1596); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); reflex epilepsy (Disease Ontology:DOID:2548); ischemia (Disease Ontology:DOID:326); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:18); (R-HSA-916853)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10407778;11237011;15528998;19300440;28832583;29557506;31844290;32357974;32488085;32502341;32983136;33404980;33717175;34357683;34742920;35051231;36284347;36718958;37122729;7721088;7851425;9683595", "class_list": "", "function": "4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; A crucial exosome-related gene pair (AAMP and ABAT) is associated with inflammatory cells in intervertebral disc degeneration. Publication Status: Online-Only, [RefSeq, PubMed]; ABAT targeted by miR-183-5p regulates cell functions in liver cancer. Erratum:[Int J Biochem Cell Biol. 2023 Jan;154:106342. doi: 10.1016/j.biocel.2022.106342. PMID: 36521342], [RefSeq, PubMed]; Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma concentration of valproic acid in Chinese epilepsy patients., [RefSeq, PubMed]; Exploring the Genetic Association of the ABAT Gene with Alzheimer's Disease. Erratum:[Mol Neurobiol. 2021 May;58(5):1904. doi: 10.1007/s12035-021-02301-4. PMID: 33483904], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K386;Q16260;Q8N5W2;Q96BG2;Q99800", "ec_number_list": [ { "id": "2.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.19", "type": "external" }, { "id": "2.6.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.22", "type": "external" } ], "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0051536 iron-sulfur cluster binding;GO:0032145 succinate-semialdehyde dehydrogenase binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0032144 4-aminobutyrate transaminase complex", "go_biological_process": "GO:0007626 locomotory behavior;GO:0032024 positive regulation of insulin secretion;GO:0035094 response to nicotine;GO:0045471 response to ethanol;GO:0001666 response to hypoxia", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "P80404-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TBA9-1", "uniprot_id": [ { "id": "FRY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TBA9", "type": "external" } ], "mass": 338875.0, "length": 3013, "protein_name": "Protein furry homolog", "gene_name": "FRY", "organism": "Human", "refseq_name": "protein furry homolog isoform 1", "refseq_ac": [ { "id": "NP_075463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075463", "type": "external" } ], "gene_names_uniprotkb": "FRY; C13orf14", "gene_names_refseq": "13CDNA73; 214K23.2; C13orf14; CG003; FRY; bA207N4.2; bA37E23.1", "protein_names_uniprotkb": "Protein furry homolog", "protein_names_refseq": "WUGSC:H_2G3A.1; protein furry homolog isoform 1; protein furry homolog", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888)", "pathway": " (hsa:10129)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;17924679;19327996;19369195;19664994;19690332;19773279;22753416;23886946;26154972;26992070;28904123;29557506;30379171;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33912179;33968037;34105348;34185709;34509645;35051231;35580925;36010968;36241641;36284347;37217939;37938771", "class_list": "", "function": "Fry also binds to Aurora A and promotes Plk1 activity by binding to the polo-box domain of Plk1 and by facilitating Aurora A-mediated Plk1 phosphorylation at Thr-210., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a crucial role in the structural integrity of mitotic centrosomes and in the maintenance of spindle bipolarity by promoting PLK1 activity at the spindle poles in early mitosis. May function as a scaffold promoting the interaction between AURKA and PLK1, thereby enhancing AURKA-mediated PLK1 phosphorylation., [UniProtKB, PubMed]; Results suggest that Fry plays a crucial role in promoting the level of microtubule acetylation in the mitotic spindle by inhibiting the tubulin-deacetylase activity of SIRT2., [RefSeq, PubMed]; Results suggest that MST2-, Fry-, and MOB2-mediated activation of NDR1 is crucial for the fidelity of mitotic chromosome alignment in mammalian cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 86, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9Y3N6", "ec_number_list": [], "go_molecular_function": "GO:0004857 enzyme inhibitor activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005938 cell cortex;GO:0030427 site of polarized growth", "go_biological_process": "GO:0031175 neuron projection development;GO:0000902 cell morphogenesis;GO:1904428 negative regulation of tubulin deacetylation", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q5TBA9-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPU7-1", "uniprot_id": [ { "id": "TBD2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPU7", "type": "external" } ], "mass": 109880.0, "length": 963, "protein_name": "TBC1 domain family member 2B", "gene_name": "TBC1D2B", "organism": "Human", "refseq_name": "TBC1 domain family member 2B isoform b", "refseq_ac": [ { "id": "NP_055894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055894", "type": "external" } ], "gene_names_uniprotkb": "TBC1D2B; KIAA1055", "gene_names_refseq": "NEDSGO; TBC1D2B", "protein_names_uniprotkb": "TBC1 domain family member 2B", "protein_names_refseq": "TBC1 domain family member 2B isoform b", "tax_id": 9606, "disease": "neurodevelopmental disorder with seizures and gingival overgrowth (Disease Ontology:DOID:0070651)", "pathway": " (hsa:23102)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;18318008;18669648;19690332;20068231;23186163;24275569;24715725;25576301;26992070;28904123;29437277;29493099;29557506;30410026;30429286;31719531;31844290;32157095;32387766;32488085;32502341;32623794;32938616;32983136;33298915;33392160;33633747;33717175;33912179;33968037;34171305;34357683;34561969;34932366;35051231;35580925;36010968;36029130;36241641;37938771;38374468;40307207;40914422", "class_list": "", "function": "Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration., [RefSeq, PubMed]; Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth., [RefSeq, PubMed]; GTPase-activating protein that plays a role in the early steps of endocytosis (PubMed:32623794)., [UniProtKB, PubMed]; TBC1D2b suppresses E-cadherin internalization, thus hindering cancer cell invasion and metastasis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A7MD42;Q8N1F9;Q9NXM0", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006897 endocytosis", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9UPU7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01415-1", "uniprot_id": [ { "id": "GALK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01415", "type": "external" } ], "mass": 50378.0, "length": 458, "protein_name": "N-acetylgalactosamine kinase", "gene_name": "GALK2", "organism": "Human", "refseq_name": "N-acetylgalactosamine kinase isoform 2", "refseq_ac": [ { "id": "NP_001001556", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001556", "type": "external" } ], "gene_names_uniprotkb": "GALK2; GK2", "gene_names_refseq": "GALK2; GK2", "protein_names_uniprotkb": "N-acetylgalactosamine kinase; 2.7.1.157; GalNAc kinase; Galactokinase 2", "protein_names_refseq": "N-acetylgalactosamine kinase isoform 2; N-acetylgalactosamine kinase; galNAc kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:2585)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;1438294;16006554;19874134;24715725;25576301;26992070;27846572;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29769354;29786170;30315122;30410026;31844290;32157095;32357974;32387766;32897882;32938616;32983136;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34405274;34509645;34932366;35051231;35580925;36010968;36215666;7542884;8798585", "class_list": "glycogene", "function": "Acts on GalNAc. Also acts as a galactokinase when galactose is present at high concentrations. May be involved in a salvage pathway for the reutilization of free GalNAc derived from the degradation of complex carbohydrates., [UniProtKB, PubMed]; GALK2 has an ordered ternary complex mechanism in which ATP is the first substrate to bind GeneRIF: Kinetic studies suggest an ordered ternary complex mechanism in which ATP is the first substrate to bind., [RefSeq, PubMed]; Geometry and substrate specificity of the GalNAc kinase active site before and after catalysis, [RefSeq, PubMed]; This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. The encoded protein is a member of the GHMP kinase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 589, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z4Q4", "ec_number_list": [ { "id": "2.7.1.157", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.157", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004335 galactokinase activity;GO:0033858 N-acetylgalactosamine kinase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006012 galactose metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q01415-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43716-1", "uniprot_id": [ { "id": "GATC_HUMAN", "url": "https://www.uniprot.org/uniprot/O43716", "type": "external" } ], "mass": 15086.0, "length": 136, "protein_name": "Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial", "gene_name": "GATC", "organism": "Human", "refseq_name": "glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial", "refseq_ac": [ { "id": "NP_789788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789788", "type": "external" } ], "gene_names_uniprotkb": "GATC; 15E1.2", "gene_names_refseq": "15E1.2; COXPD42; GATC", "protein_names_uniprotkb": "Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial; 6.3.5.-; Glu-AdT subunit C; Protein 15E1.2", "protein_names_refseq": "glu-AdT subunit C; glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial; glutamyl-tRNA(Gln) amidotransferase, subunit C homolog", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 42 (Disease Ontology:DOID:0112118)", "pathway": " (hsa:283459)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;19805282;20877624;23481700;24366607;24579914;25576301;26375851;26992070;27600516;28228285;28510447;28832583;28904123;29242379;29632046;29786170;30283131;30315122;31844290;31937595;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33537174;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;35051231;36010968;36241641", "class_list": "", "function": "Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln)., [UniProtKB, PubMed, HAMAP]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB., [RefSeq, PubMed]; The mitochondrial defective phenotype provoked by the absence of gatA in human cells is confirmed by means of a deficient ability to grow when galactose is used as a carbon source., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KSU7;Q3B824;Q3KNR8", "ec_number_list": [ { "id": "6.3.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.5.-", "type": "external" }, { "id": "6.3.5.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.5.7", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0050567 glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0030956 glutamyl-tRNA(Gln) amidotransferase complex", "go_biological_process": "GO:0032543 mitochondrial translation;GO:0070681 glutaminyl-tRNAGln biosynthesis via transamidation;GO:0006450 regulation of translational fidelity", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "O43716-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P81274-1", "uniprot_id": [ { "id": "GPSM2_HUMAN", "url": "https://www.uniprot.org/uniprot/P81274", "type": "external" } ], "mass": 76662.0, "length": 684, "protein_name": "G protein-signaling modulator 2", "gene_name": "GPSM2", "organism": "Human", "refseq_name": "G-protein-signaling modulator 2", "refseq_ac": [ { "id": "NP_001307967", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307967", "type": "external" } ], "gene_names_uniprotkb": "GPSM2; LGN", "gene_names_refseq": "CMCS; DFNB82; GPSM2; LGN; PINS", "protein_names_uniprotkb": "G protein-signaling modulator 2; Mosaic protein LGN", "protein_names_refseq": "G-protein signalling modulator 2 (AGS3-like, C. elegans); G-protein-signaling modulator 2; mosaic protein LGN", "tax_id": 9606, "disease": "sensorineural hearing loss (Disease Ontology:DOID:10003); brain cancer (Disease Ontology:DOID:1319); cancer (Disease Ontology:DOID:162); Chudley-McCullough syndrome (MONDO:MONDO:0011411)", "pathway": " (hsa:29899); (R-HSA-418594)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "11007482;11237011;11781568;11832491;12120503;15632202;15951850;16458856;16634148;16923326;18434541;18577758;18669648;19651622;20068231;20589935;20602914;21816348;22074847;22327364;22578326;23186163;2534964;25664792;26766442;26992070;27462074;2748346;27846572;27920218;28063628;2834384;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29786170;31217245;31844290;32265295;32387766;32488085;32812493;32938616;33298915;33912179;33968037;34357683;35051231;35580925;35940821;37938771;38674408;39894887;7937899;8015379;8406495;8973305", "class_list": "", "function": "G-Protein Signaling Modulator 2 as a Potential Biomarker in Colorectal Cancer: Integrative Analysis Using Genetic Profiling and Pan-Cancer Studies. Publication Status: Online-Only, [RefSeq, PubMed]; GPSM2 Serves as an Independent Prognostic Biomarker for Liver Cancer Survival., [RefSeq, PubMed]; LGN is expressed in neuronal, astroglial, and microglial cultures, [RefSeq, PubMed]; Plays an important role in mitotic spindle pole organization via its interaction with NUMA1 (PubMed:11781568, PubMed:15632202, PubMed:21816348). Required for cortical dynein-dynactin complex recruitment during metaphase (PubMed:22327364). Plays a role in metaphase spindle orientation (PubMed:22327364). Also plays an important role in asymmetric cell divisions (PubMed:21816348). Has guanine nucleotide dissociation inhibitor (GDI) activity towards G(i) alpha proteins, such as GNAI1 and GNAI3, and thereby regulates their activity (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]; Truncated isoforms of GPSM2 containing the GoLoco motif region promote CD4(+) T-cell migration in SLE., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5T1N8;Q6IBL7;Q8N0Z5", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0000166 nucleotide binding;GO:0001965 G-protein alpha-subunit binding;GO:0070840 dynein complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005938 cell cortex;GO:0016328 lateral plasma membrane;GO:0099738 cell cortex region", "go_biological_process": "GO:1905832 positive regulation of spindle assembly;GO:0007186 G protein-coupled receptor signaling pathway;GO:0051301 cell division;GO:1904778 positive regulation of protein localization to cell cortex;GO:0051661 maintenance of centrosome location", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "P81274-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RT8-1", "uniprot_id": [ { "id": "GCP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RT8", "type": "external" } ], "mass": 118321.0, "length": 1024, "protein_name": "Gamma-tubulin complex component 5", "gene_name": "TUBGCP5", "organism": "Human", "refseq_name": "gamma-tubulin complex component 5 isoform b", "refseq_ac": [ { "id": "NP_001096080", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096080", "type": "external" } ], "gene_names_uniprotkb": "TUBGCP5; GCP5; KIAA1899", "gene_names_refseq": "GCP5; TUBGCP5", "protein_names_uniprotkb": "Gamma-tubulin complex component 5; GCP-5", "protein_names_refseq": "gamma-tubulin complex component 5 isoform b; gamma-tubulin complex component 5; gamma-tubulin complex component GCP5; tubulin gamma complex associated protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:114791); (R-HSA-380270); (R-HSA-380320)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "11237011;11694571;11956313;12221128;14508708;14654843;16462731;16982806;18316369;22544926;23481700;23921553;24715725;25576301;25645385;25892735;26154972;26375851;26992070;27397612;27543614;27600516;27846572;27862975;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30410026;30429286;30524438;30779550;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33633747;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34509645;35051231;35580925;36010968;36215666;36241641;38253038;38305685;38609661;39321809;7769006;7790358;8838651", "class_list": "", "function": "Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation (PubMed:38305685, PubMed:38609661, PubMed:39321809). The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation (PubMed:38305685, PubMed:38609661, PubMed:39321809)., [UniProtKB, PubMed, PubMed, PubMed]; Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation., [UniProtKB, UniProtKB, UniProtKB]; Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation. The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; GSK-3beta regulates the localization of gamma-tubulin ring complex, including GCP5, to the spindle poles, thereby controlling the formation of proper mitotic spindles, [RefSeq, PubMed]; Located in the genomic domain between break points 1 and 2 on chromosome 15, of the Prader-Willi/Angelman syndromes, [RefSeq, PubMed]; Quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5 in Prader-Willi syndrome and correlated levels with psychological and behavior scales, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "E9PB12;Q6IQ52;Q96PY8", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0043015 gamma-tubulin binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0000930 gamma-tubulin complex", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0007020 microtubule nucleation;GO:0051225 spindle assembly;GO:0051321 meiotic cell cycle;GO:0031122 cytoplasmic microtubule organization", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q96RT8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12034-1", "uniprot_id": [ { "id": "FGF5_HUMAN", "url": "https://www.uniprot.org/uniprot/P12034", "type": "external" } ], "mass": 29551.0, "length": 268, "protein_name": "Fibroblast growth factor 5", "gene_name": "FGF5", "organism": "Human", "refseq_name": "fibroblast growth factor 5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_004455", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004455", "type": "external" } ], "gene_names_uniprotkb": "FGF5", "gene_names_refseq": "FGF5; HBGF-5; Smag-82; TCMGLY", "protein_names_uniprotkb": "Fibroblast growth factor 5; FGF-5; HBGF-5; Heparin-binding growth factor 5; Smag-82", "protein_names_refseq": "fibroblast growth factor 5 isoform 1 precursor; heparin-binding growth factor 5", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 47 (Disease Ontology:DOID:0080425); familial isolated trichomegaly (Disease Ontology:DOID:0111566)", "pathway": " (hsa:2250)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10823842;11237011;11454700;1700424;20094046;24989505;3211147;35866594;36368152;36808266;37508483;38253038;39059473;8663044", "class_list": "glycogene", "function": "Circ_0001715 Functions as a miR-1249-3p Sponge to Accelerate the Progression of Non-small Cell Lung Cancer via Upregulating the Level of FGF5., [RefSeq, PubMed]; FGF5 protects heart from sepsis injury by attenuating cardiomyocyte pyroptosis through inhibiting CaMKII/NFkappaB signaling., [RefSeq, PubMed]; Fibroblast growth factor 5 as a target for atrial fibrillation treatment: Evidence from mendelian randomization., [RefSeq, PubMed]; Improving the Efficiency of Precise Genome Editing with CRISPR/Cas9 to Generate Goats Overexpressing Human Butyrylcholinesterase. Publication Status: Online-Only, [RefSeq, PubMed]; MiR4913p functions as a tumor suppressor in nonsmall cell lung cancer by targeting fibroblast growth factor 5., [RefSeq, PubMed]; Plays an important role in the regulation of cell proliferation and cell differentiation. Required for normal regulation of the hair growth cycle. Functions as an inhibitor of hair elongation by promoting progression from anagen, the growth phase of the hair follicle, into catagen the apoptosis-induced regression phase (By similarity)., [UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 429, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R554;O75846;Q3Y8M3;Q8NF90", "ec_number_list": [], "go_molecular_function": "GO:0008083 growth factor activity;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0007399 nervous system development;GO:0008284 positive regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade;GO:0051781 positive regulation of cell division", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "P12034-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42262-1", "uniprot_id": [ { "id": "GRIA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P42262", "type": "external" } ], "mass": 98821.0, "length": 883, "protein_name": "Glutamate receptor 2", "gene_name": "GRIA2", "organism": "Human", "refseq_name": "glutamate receptor 2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000817", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000817", "type": "external" } ], "gene_names_uniprotkb": "GRIA2; GLUR2; GluA2", "gene_names_refseq": "GLUR2; GLURB; GRIA2; GluA2; GluR-K2; HBGR2; NEDLIB; gluR-2; gluR-B", "protein_names_uniprotkb": "Glutamate receptor 2; AMPA-selective glutamate receptor 2; GluR-2; GluR-B; GluR-K2; Glutamate receptor ionotropic, AMPA 2", "protein_names_refseq": "AMPA receptor subunit GluA2; AMPA-selective glutamate receptor 2; glutamate receptor 2 isoform 1 precursor; glutamate receptor 2; glutamate receptor, ionotropic, AMPA 2", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); status epilepticus (Disease Ontology:DOID:1824); morphine dependence (Disease Ontology:DOID:2560); central nervous system disease (Disease Ontology:DOID:331); amphetamine abuse (Disease Ontology:DOID:670); cannabis abuse (Disease Ontology:DOID:9505); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976); neurodevelopmental disorder with language impairment and behavioral abnormalities (MONDO:MONDO:0030060)", "pathway": " (hsa:2891); (R-HSA-399710); (R-HSA-416993); (R-HSA-438066); (R-HSA-9022699); (R-HSA-9620244)", "pathway_count": 6, "publication_count": 53, "publication_id_list": "10501226;11007883;11237011;11248365;11466413;11640921;12172541;12815021;12930798;14534256;14567697;14687553;15240807;15247289;16055064;17409242;17460080;18077702;18417360;18945913;19144831;19217372;19279258;19651138;20571220;20614889;21531559;22049330;23129617;23431139;23739980;24150225;25424712;26214522;26271046;26668821;26966584;28449373;29247190;29557506;29769354;30524438;30883902;31154438;31300657;31454362;32581155;33592498;35051231;36387774;7523595;8003671;9648857", "class_list": "", "function": "Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; He current study investigated novel curcumin derivatives on the biophysical properties of AMPA receptors, specifically on the homomeric GluA2 and the heteromeric GluA2/A3 subunits and assessed for inhibitory actions Publication Status: Online-Only, [RefSeq, PubMed]; Internalization of AMPA-type Glutamate Receptor in the MIN6 Pancreatic beta-cell Line., [RefSeq, PubMed]; Ionotropic glutamate receptor that functions as a ligand-gated cation channel, gated by L-glutamate and glutamatergic agonists such as alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), quisqualic acid, and kainic acid (PubMed:20614889, PubMed:31300657, PubMed:8003671). L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system and plays an important role in fast excitatory synaptic transmission (PubMed:14687553). Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse upon entry of monovalent and divalent cations such as sodium and calcium (PubMed:20614889, PubMed:8003671). The receptor then desensitizes rapidly and enters in a transient inactive state, characterized by the presence of bound agonist (By similarity). In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of L-glutamate (By similarity). Through complex formation with NSG1, GRIP1 and STX12 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 4, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 11, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8MT92;I6L997;Q96FP6", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0001540 amyloid-beta binding;GO:0004970 glutamate-gated receptor activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0004971 AMPA glutamate receptor activity;GO:0099094 ligand-gated monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0030425 dendrite;GO:0032279 asymmetric synapse;GO:0043025 neuronal cell body", "go_biological_process": "GO:0035235 ionotropic glutamate receptor signaling pathway;GO:0035249 synaptic transmission, glutamatergic;GO:0050804 modulation of chemical synaptic transmission;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "P42262-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZZ9-1", "uniprot_id": [ { "id": "UBA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZZ9", "type": "external" } ], "mass": 44863.0, "length": 404, "protein_name": "Ubiquitin-like modifier-activating enzyme 5", "gene_name": "UBA5", "organism": "Human", "refseq_name": "ubiquitin-like modifier-activating enzyme 5 isoform 2", "refseq_ac": [ { "id": "NP_001307139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307139", "type": "external" } ], "gene_names_uniprotkb": "UBA5; UBE1DC1", "gene_names_refseq": "DEE44; EIEE44; SCAR24; THIFP1; UBA5; UBE1DC1", "protein_names_uniprotkb": "Ubiquitin-like modifier-activating enzyme 5; ThiFP1; UFM1-activating enzyme; Ubiquitin-activating enzyme 5; Ubiquitin-activating enzyme E1 domain-containing protein 1", "protein_names_refseq": "UBA5, ubiquitin-activating enzyme E1 homolog; UFM1-activating enzyme; ubiquitin-activating enzyme 5; ubiquitin-activating enzyme E1 domain-containing protein 1; ubiquitin-activating enzyme E1-domain containing 1; ubiquitin-like modifier-activating enzyme 5 isoform 2", "tax_id": 9606, "disease": "early infantile epileptic encephalopathy (Disease Ontology:DOID:0050709); developmental and epileptic encephalopathy 44 (Disease Ontology:DOID:0080424); autosomal recessive spinocerebellar ataxia 24 (Disease Ontology:DOID:0111615)", "pathway": " (hsa:79876); (R-HSA-983168); (R-HSA-9918485)", "pathway_count": 3, "publication_count": 106, "publication_id_list": "11062501;11230166;11237011;11337487;11350924;12646216;12682107;14734113;15071506;15098107;15224091;15224092;15507651;15571818;15838506;16328888;16595681;16849449;16954532;17825256;18266465;18442052;18662542;18669648;19028597;19352404;19452197;19489725;19690332;19851334;19874575;19940261;20068231;20368332;2261476;23084921;23186163;23481700;23658209;24074594;24715725;25219498;25576301;26056282;26154972;26212330;26375851;26468529;26872069;26929408;27545674;27545681;27653677;27832191;27920218;28228285;28360427;28510447;28832583;28904123;29242379;29295865;29557506;29610346;29632711;29742433;29769354;29786170;29868776;30315122;30412706;30626644;30990354;31092671;31720911;31844290;32157095;32160526;32161166;32350084;32387766;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;34211107;34405274;34509645;34588452;34932366;35051231;35138101;35318648;35394863;35580925;36284347;38079206;40914422;9380723;9668046;9931503", "class_list": "", "function": "Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. Publication Status: Online-Only, [RefSeq, PubMed]; E1-like enzyme which specifically catalyzes the first step in ufmylation (PubMed:15071506, PubMed:18442052, PubMed:20368332, PubMed:25219498, PubMed:26929408, PubMed:27545674, PubMed:27545681, PubMed:27653677, PubMed:30412706, PubMed:30626644, PubMed:34588452). Activates UFM1 by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a UFM1-E1 thioester and free AMP (PubMed:20368332, PubMed:26929408, PubMed:27653677, PubMed:30412706). Activates UFM1 via a trans-binding mechanism, in which UFM1 interacts with distinct sites in both subunits of the UBA5 homodimer (PubMed:27653677). Trans-binding also promotes stabilization of the UBA5 homodimer, and enhances ATP-binding (PubMed:29295865). Transfer of UFM1 from UBA5 to the E2-like enzyme UFC1 also takes place using a trans mechanism (PubMed:27653677, PubMed:34588452). Ufmylation plays a key role in various processes, such as ribosome recycling, response to DNA damage, interferon response or reticulophagy (also called ER-phagy) (PubMed:30412706, PubMed:32160526, PubMed:35394863). Ufmylation is essential for erythroid differentiation of both megakaryocytes and erythrocytes (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; E1-like enzyme which specifically catalyzes the first step in ufmylation. Activates UFM1 by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a UFM1-E1 thioester and free AMP. Activates UFM1 via a trans-binding mechanism, in which UFM1 interacts with distinct sites in both subunits of the UBA5 homodimer. Trans-binding also promotes stabilization of the UBA5 homodimer, and enhances ATP-binding. Transfer of UFM1 from UBA5 to the E2-like enzyme UFC1 also takes place using a trans mechanism. Ufmylation plays a key role in various processes, such as ribosome recycling, response to DNA damage, interferon response or reticulophagy (also called ER-phagy). Ufmylation is essential for erythroid differentiation of both megakaryocytes and erythrocytes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Structural basis for UFM1 transfer from UBA5 to UFC1. Publication Status: Online-Only, [RefSeq, PubMed]; Studies reveal structural features of UBA5 that further understanding of the enzyme reaction mechanism and provide insight into the evolution of ubiquitin activation., [RefSeq, PubMed]; This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]., [RefSeq]; UBE1DC1 greatly activated SUMO2 in the nucleus or transferred activated-SUMO2 to nucleus after it conjugated SUMO2 in the cytoplasm., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NJL3;D3DNC8;Q96ST1", "ec_number_list": [], "go_molecular_function": "GO:0071566 UFM1 activating enzyme activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0030219 megakaryocyte differentiation;GO:0050905 neuromuscular process;GO:0030218 erythrocyte differentiation;GO:0034976 response to endoplasmic reticulum stress;GO:0071569 protein ufmylation", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q9GZZ9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50440-1", "uniprot_id": [ { "id": "GATM_HUMAN", "url": "https://www.uniprot.org/uniprot/P50440", "type": "external" } ], "mass": 48455.0, "length": 423, "protein_name": "Glycine amidinotransferase, mitochondrial", "gene_name": "GATM", "organism": "Human", "refseq_name": "glycine amidinotransferase, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_001473", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001473", "type": "external" } ], "gene_names_uniprotkb": "GATM; AGAT", "gene_names_refseq": "AGAT; AT; CCDS3; FRTS1; FRTS; GATM; RFS", "protein_names_uniprotkb": "Glycine amidinotransferase, mitochondrial; 2.1.4.1; L-arginine:glycine amidinotransferase; Transamidinase", "protein_names_refseq": "glycine amidinotransferase (L-arginine:glycine amidinotransferase); glycine amidinotransferase, mitochondrial isoform 1 precursor; glycine amidinotransferase, mitochondrial; testicular secretory protein Li 19; transamidinase", "tax_id": 9606, "disease": "AGAT deficiency (Disease Ontology:DOID:0050712); Fanconi renotubular syndrome 1 (Disease Ontology:DOID:0080757); pre-eclampsia (Disease Ontology:DOID:10591); Fanconi syndrome (Disease Ontology:DOID:1062); acute kidney failure (Disease Ontology:DOID:3021); kidney disease (Disease Ontology:DOID:557); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:2628); (R-HSA-71288)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "11237011;11555793;12889669;15044463;16125225;16614068;16820567;16981706;18077418;19608861;20166139;20682460;22386973;2324105;23481700;23660394;23770102;24275569;26490222;27233232;27920218;28228285;28832583;28904123;2914937;29242379;29557506;29654216;31154438;31217245;31844290;31998317;32357974;33298915;33592498;33936100;35051231;36215666;36543883;37217939;37286521;3800397;38104212;38452609;7945388;8313955;8651275;9148748;9165070;9218780;9266688;9722522;9915841", "class_list": "", "function": "Association of Familial Fanconi Syndrome with a Novel GATM Variant., [RefSeq, PubMed]; ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes., [RefSeq, PubMed]; Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]., [RefSeq]; Transamidinase that catalyzes the transfer of the amidino group of L-arginine onto the amino moiety of acceptor metabolites such as glycine, beta-alanine, gamma-aminobutyric acid (GABA) and taurine yielding the corresponding guanidine derivatives (PubMed:16820567, PubMed:27233232, PubMed:36543883, PubMed:3800397). Catalyzes the rate-limiting step of creatine biosynthesis, namely the transfer of the amidino group from L-arginine to glycine to generate guanidinoacetate, which is then methylated by GAMT to form creatine. Provides creatine as a source for ATP generation in tissues with high energy demands, in particular skeletal muscle, heart and brain (Probable) (PubMed:27233232, PubMed:36543883, PubMed:3800397, PubMed:9266688)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DH99;B4DPI3;Q53EQ4", "ec_number_list": [ { "id": "2.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.4.1", "type": "external" } ], "go_molecular_function": "GO:0015067 amidinotransferase activity;GO:0015068 glycine amidinotransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007611 learning or memory;GO:0006600 creatine metabolic process;GO:0006601 creatine biosynthetic process;GO:0014889 muscle atrophy;GO:0120162 positive regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "P50440-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCL4-1", "uniprot_id": [ { "id": "GALT6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCL4", "type": "external" } ], "mass": 71159.0, "length": 622, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 6", "gene_name": "GALNT6", "organism": "Human", "refseq_name": "polypeptide N-acetylgalactosaminyltransferase 6", "refseq_ac": [ { "id": "NP_009141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009141", "type": "external" } ], "gene_names_uniprotkb": "GALNT6", "gene_names_refseq": "GALNAC-T6; GALNT6; GalNAcT6", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 6; 2.4.1.41; GalNAc-T6; Polypeptide GalNAc transferase 6; Protein-UDP acetylgalactosaminyltransferase 6; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 6; pp-GaNTase 6", "protein_names_refseq": "GalNAc transferase 6; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 6; UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 6; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6); polypeptide GalNAc transferase 6; polypeptide N-acetylgalactosaminyltransferase 6; pp-GaNTase 6; protein-UDP acetylgalactosaminyltransferase 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:11226); (R-HSA-913709)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10330415;10430883;10464263;10753916;11042166;11237011;11283017;11304796;11821425;12506059;12855678;1329093;14702039;15486459;15489334;15560372;15620693;17113861;18537974;18854599;19287074;21472136;22183981;23584533;24643043;25502872;25813380;28467828;28832583;28904123;29242379;29632046;30524438;31071912;31844290;31894262;31932717;32350084;32393740;32559179;32814053;33912179;33981976;34087483;35051231;35154160;35251023;35494241;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (PubMed:10464263, PubMed:31932717). May participate in synthesis of oncofetal fibronectin (PubMed:10464263). Has activity toward MUC1A, MUC2, EA2 and fibronectin peptides (PubMed:10464263). Glycosylates FGF23 (PubMed:31932717)., [UniProtKB, PubMed, PubMed]; Expression of ppGalNAc-T6 is significantly higher in breast cancer compared to 'normal'/benign breast tissue samples. ST6GalNAc-I expression in breast cancer is associated with better prognosis., [RefSeq, PubMed]; GALNT6 promotes breast cancer metastasis by increasing mucin-type O-glycosylation of alpha2M., [RefSeq, PubMed]; GALNT6 promotes invasion and metastasis of human lung adenocarcinoma cells through O-glycosylating chaperone protein GRP78. Publication Status: Online-Only, [RefSeq, PubMed]; GALNT6-fibronectin pathway should be a critical component for breast cancer development and progression., [RefSeq, PubMed]; PpGalNAc-T6 is an IHC marker associated with venous invasion in gastric carcinoma and may contribute to the understanding of the molecular mechanisms that underlie aberrant glycosylation in gastric carcinogenesis and in gastric carcinoma., [RefSeq, PubMed]; This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 808, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q8IYH4;Q9H6G2;Q9UIV5", "ec_number_list": [ { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 7434, "hit_score": 6.5, "record_id": "Q8NCL4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6MZW2-1", "uniprot_id": [ { "id": "FSTL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6MZW2", "type": "external" } ], "mass": 93096.0, "length": 842, "protein_name": "Follistatin-related protein 4", "gene_name": "FSTL4", "organism": "Human", "refseq_name": "follistatin-related protein 4 precursor", "refseq_ac": [ { "id": "NP_055897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055897", "type": "external" } ], "gene_names_uniprotkb": "FSTL4; KIAA1061", "gene_names_refseq": "FSTL4", "protein_names_uniprotkb": "Follistatin-related protein 4; Follistatin-like protein 4", "protein_names_refseq": "follistatin-like protein 4; follistatin-related protein 4 precursor; follistatin-related protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:23105)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;15527507;17975119;19023099;23584533;29557506;30115740;32157095;33968037;35051231;35289036;35494241", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q8TBU0;Q9UPU1", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0048403 brain-derived neurotrophic factor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0030141 secretory granule", "go_biological_process": "GO:0030154 cell differentiation;GO:0030510 regulation of BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q6MZW2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCQ5-1", "uniprot_id": [ { "id": "GALT9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCQ5", "type": "external" } ], "mass": 68359.0, "length": 603, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 9", "gene_name": "GALNT9", "organism": "Human", "refseq_name": "polypeptide N-acetylgalactosaminyltransferase 9 isoform A", "refseq_ac": [ { "id": "NP_001116108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116108", "type": "external" } ], "gene_names_uniprotkb": "GALNT9", "gene_names_refseq": "GALNAC-T9; GALNACT9; GALNT9", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 9; 2.4.1.41; GalNAc-T9; Polypeptide GalNAc transferase 9; Protein-UDP acetylgalactosaminyltransferase 9; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 9; pp-GaNTase 9", "protein_names_refseq": "GalNAc transferase 9; UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 9; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9); polypeptide GalNAc transferase 9; polypeptide N-acetylgalactosaminyltransferase 9 isoform A; pp-GaNTase 9; protein-UDP acetylgalactosaminyltransferase 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:50614); (R-HSA-913709)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10330415;10430883;10753916;10978536;11042166;11237011;11283017;11304796;11821425;12407114;12855678;1329093;15486459;15489334;15560372;15620693;16712791;17113861;18537974;22183981;23136245;24643043;25892735;28228285;36010968;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Does not glycosylate apomucin or SDC3., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; GALNT9 expression correlates with both improved overall survival in low- and high-risk groups and an improved clinical outcome (overall and disease-free survival) in low-risk patients, [RefSeq, PubMed]; This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 730, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q52LR8;Q6NT54;Q8NFR1", "ec_number_list": [ { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 7434, "hit_score": 3.3, "record_id": "Q9HCQ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVV7-1", "uniprot_id": [ { "id": "GID4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVV7", "type": "external" } ], "mass": 33514.0, "length": 300, "protein_name": "Glucose-induced degradation protein 4 homolog", "gene_name": "GID4", "organism": "Human", "refseq_name": "glucose-induced degradation protein 4 homolog isoform 1", "refseq_ac": [ { "id": "NP_076957", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076957", "type": "external" } ], "gene_names_uniprotkb": "GID4; C17orf39; VID24", "gene_names_refseq": "C17orf39; GID4; VID24; VID2", "protein_names_uniprotkb": "Glucose-induced degradation protein 4 homolog; Vacuolar import and degradation protein 24 homolog", "protein_names_refseq": "GID complex subunit 4, VID24 homolog; glucose-induced degradation protein 4 homolog isoform 1; glucose-induced degradation protein 4 homolog; vacuolar import and degradation 24; vacuolar import and degradation protein 24 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:79018); (R-HSA-9861718)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "11237011;18077418;18387606;22499340;23481700;25576301;26992070;28218747;28832583;28834231;29242379;29351928;29437277;29493099;29632410;29786170;29911972;30315122;30410026;30429286;31735643;31844290;32357974;32574038;32938616;33462636;33592498;34171305;34932366;35051231;35494241;35580925;36241641;38773330;39302247;39389782;39531497;39534244;7757881", "class_list": "", "function": "Substrate-recognition subunit of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (Probable) (PubMed:29911972). Binds proteins and peptides with a Pro/N-degron consisting of an unmodified N-terminal Pro followed by a small residue, and has the highest affinity for the peptide Pro-Gly-Leu-Trp (PubMed:29632410). Binds peptides with an N-terminal sequence of the type Pro-[Ala,Gly]-[Leu,Met,Gln,Ser,Tyr]-[Glu,Gly,His,Ser,Val,Trp,Tyr]. Does not bind peptides with an acetylated N-terminal Pro residue (PubMed:29632410)., [UniProtKB, PubMed, PubMed]; The hGID[GID4] E3 ubiquitin ligase complex targets ARHGAP11A to regulate cell migration. Publication Status: Online-Only, [RefSeq, PubMed]; The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8TEB5;Q9BW50", "ec_number_list": [], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q8IVV7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6Y7W6-1", "uniprot_id": [ { "id": "GGYF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6Y7W6", "type": "external" } ], "mass": 150070.0, "length": 1299, "protein_name": "GRB10-interacting GYF protein 2", "gene_name": "GIGYF2", "organism": "Human", "refseq_name": "GRB10-interacting GYF protein 2 isoform b", "refseq_ac": [ { "id": "NP_001096616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096616", "type": "external" } ], "gene_names_uniprotkb": "GIGYF2; KIAA0642; PERQ2; TNRC15", "gene_names_refseq": "GIGYF2; GYF2; PARK11; PERQ2; PERQ3; TNRC15", "protein_names_uniprotkb": "GRB10-interacting GYF protein 2; PERQ amino acid-rich with GYF domain-containing protein 2; Trinucleotide repeat-containing gene 15 protein", "protein_names_refseq": "GRB10-interacting GYF protein 2 isoform b; PERQ amino acid rich, with GYF domain 3; PERQ amino acid-rich with GYF domain-containing protein 2; Parkinson disease (autosomal recessive, early onset) 11; trinucleotide repeat-containing gene 15 protein", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); Parkinson's disease (Disease Ontology:DOID:14330); schizophrenia (Disease Ontology:DOID:5419); Parkinson disease 11, autosomal dominant, susceptibility to (MONDO:MONDO:0011896)", "pathway": " (hsa:26058)", "pathway_count": 1, "publication_count": 134, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12771153;15302935;16964243;17081983;17693683;18212344;18220336;18358451;18452278;18491316;18669648;18691976;19279319;19321232;19413330;19415658;19429085;19482505;19638301;19651622;19664995;19690332;20004041;20058876;20060621;20068231;20166139;20178831;21406692;22028470;22223895;22751931;23186163;23481700;24275569;24397554;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26134514;26154972;26375851;26728094;26811146;26929215;26992070;27600516;27846572;27920218;28063628;28228285;28510447;28514659;28657654;28832583;28834231;28904123;29237092;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30059200;30315122;30379171;30410026;30429286;30484775;30620550;30779550;31154438;31439631;31492838;31844290;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32726578;32938616;32938750;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34229054;34509645;34561969;34665823;34725712;34932366;35051231;35132862;35254053;35513511;35580925;35878012;36010968;36215666;36241641;36284347;36581221;37340703;37541260;37938771;38253038;38665916;39138413;39531497;39534244;40307207", "class_list": "", "function": "(Microbial infection) Upon SARS coronavirus-2/SARS-CoV-2 infection, the interaction with non-structural protein 2 (nsp2) enhances GIGYF2 binding to EIF4E2 and increases repression of translation initiation of genes involved in antiviral innate immune response such as IFNB1., [UniProtKB, PubMed]; Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931, PubMed:31439631, PubMed:35878012). In the 4EHP-GYF2 complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (PubMed:31439631). Also recruits and bridges the association of the 4EHP complex with the decapping effector protein DDX6, which is required for the ZFP36/TTP-mediated down-regulation of AU-rich mRNA (PubMed:31439631). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors (PubMed:12771153). In association with EIF4E2, assists ribosome-associated quality control (RQC) by sequestering the mRNA cap, blocking ribosome initiation and decreasing the translational load on problematic messages. Part of a pathway that works in parallel to RQC-mediated degradation of the stalled nascent polypeptide (PubMed:32726578). GIGYF2 and EIF4E2 work downstream and independently of ZNF598, which seems to work as a scaffold that can recruit them to faulty mRNA even if alternative recruitment mechanisms may exist (PubMed:32726578)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; RNA-binding protein GIGYF2 orchestrates hepatic insulin resistance through STAU1/PTEN-mediated disruption of the PI3K/AKT signaling cascade. Publication Status: Online-Only, [RefSeq, PubMed]; This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]., [RefSeq]; Translational repression of NMD targets by GIGYF2 and EIF4E2. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 27, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A6H8W4;B9EG55;E9PBB0;O75137;Q7Z2Z8;Q7Z3I2;Q96HU4;Q9NV82", "ec_number_list": [], "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0060090 molecular adaptor activity;GO:0003723 RNA binding;GO:0045296 cadherin binding;GO:0070064 proline-rich region binding", "go_cellular_component": "GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0017148 negative regulation of translation;GO:0045947 negative regulation of translational initiation;GO:0048009 insulin-like growth factor receptor signaling pathway;GO:0061157 mRNA destabilization", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q6Y7W6-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14832-1", "uniprot_id": [ { "id": "GRM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14832", "type": "external" } ], "mass": 98879.0, "length": 879, "protein_name": "Metabotropic glutamate receptor 3", "gene_name": "GRM3", "organism": "Human", "refseq_name": "metabotropic glutamate receptor 3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000831", "type": "external" } ], "gene_names_uniprotkb": "GRM3; GPRC1C; MGLUR3", "gene_names_refseq": "GLUR3; GPRC1C; GRM3; MGLUR3; mGlu3", "protein_names_uniprotkb": "Metabotropic glutamate receptor 3; mGluR3", "protein_names_refseq": "glutamate receptor, metabotropic 3; metabotropic glutamate receptor 3 isoform 1 precursor; metabotropic glutamate receptor 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:2913); (R-HSA-418594); (R-HSA-420499)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "11007482;11208605;11237011;11917125;12120503;1329206;15194188;15576628;15951850;16417579;16634148;16923326;18434541;18577758;19255473;20022913;20555319;21148030;23121374;23674604;24235081;2534964;27071541;2748346;2834384;28514659;29557506;29614098;31154438;31844290;32839935;33968037;34290229;35051231;7476890;7617140;7620613;7623957;7759551;7908515;7937899;8015379;8406495;8840013;8887960;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Circ_0079593 facilitates proliferation, metastasis, glucose metabolism and inhibits apoptosis in melanoma by regulating the miR-516b/GRM3 axis., [RefSeq, PubMed]; G protein-coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling inhibits adenylate cyclase activity., [UniProtKB, PubMed]; Inhibition of metabotropic glutamate receptor III facilitates sensitization to alkylating chemotherapeutics in glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 88, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q2PNZ6;Q75MV4;Q75N17;Q86YG6;Q8TBH9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005246 calcium channel regulator activity;GO:0097110 scaffold protein binding;GO:0001641 group II metabotropic glutamate receptor activity;GO:0008066 glutamate receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0030424 axon;GO:0043197 dendritic spine", "go_biological_process": "GO:0007194 negative regulation of adenylate cyclase activity;GO:0007268 chemical synaptic transmission;GO:0051966 regulation of synaptic transmission, glutamatergic;GO:0007216 G protein-coupled glutamate receptor signaling pathway;GO:0099170 postsynaptic modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q14832-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000100010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3B7-1", "uniprot_id": [ { "id": "RM11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3B7", "type": "external" } ], "mass": 20683.0, "length": 192, "protein_name": "Large ribosomal subunit protein uL11m", "gene_name": "MRPL11", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL11m isoform a", "refseq_ac": [ { "id": "NP_057134", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057134", "type": "external" } ], "gene_names_uniprotkb": "MRPL11; CGI-113", "gene_names_refseq": "CGI-113; L11MT; MRP-L11; MRPL11; uL11m", "protein_names_uniprotkb": "Large ribosomal subunit protein uL11m; 39S ribosomal protein L11, mitochondrial; L11mt; MRP-L11", "protein_names_refseq": "39S ribosomal protein L11, mitochondrial; large ribosomal subunit protein uL11m isoform a; mitochondrial large ribosomal subunit protein uL11m", "tax_id": 9606, "disease": "", "pathway": " (hsa:65003); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 72, "publication_id_list": "11237011;11279069;11543634;15358359;17803939;18429816;18782833;19524667;19716793;20068231;20186120;21907147;22121020;22172991;2250005;25233460;25278503;25418920;25838379;26375851;26992070;27029019;28228285;28510447;28514659;28832583;28834231;28855257;28892042;28904123;29242379;29393594;29557506;29632046;29786170;30192525;30315122;30429286;30524438;31092671;31217245;31530632;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32938616;33141586;33243891;33537174;33592498;33691108;33717175;33878294;33912179;33936100;33968037;33981976;34211107;34405274;35051231;35251023;35561310;36010968;36241641;36302763;36596788;37141370;39395807", "class_list": "", "function": "This nuclear gene encodes a 39S subunit component of the mitochondial ribosome. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene are found on chromosomes 5 and 12. [provided by RefSeq, May 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NLT0;A8K219;Q32P46;Q96Q73", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome;GO:0070180 large ribosomal subunit rRNA binding", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome;GO:0005840 ribosome", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9Y3B7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VQ1-1", "uniprot_id": [ { "id": "GLCI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VQ1", "type": "external" } ], "mass": 58024.0, "length": 547, "protein_name": "Glucocorticoid-induced transcript 1 protein", "gene_name": "GLCCI1", "organism": "Human", "refseq_name": "glucocorticoid-induced transcript 1 protein", "refseq_ac": [ { "id": "NP_612435", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612435", "type": "external" } ], "gene_names_uniprotkb": "GLCCI1", "gene_names_refseq": "FAM117C; GCTR; GIG18; GLCCI1; TSSN1", "protein_names_uniprotkb": "Glucocorticoid-induced transcript 1 protein", "protein_names_refseq": "glucocorticoid induced transcript 1; glucocorticoid-induced transcript 1 protein", "tax_id": 9606, "disease": "childhood-onset asthma (Disease Ontology:DOID:0080815); hypertension (Disease Ontology:DOID:10763); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); diabetes mellitus (Disease Ontology:DOID:9351); glucocorticoid therapy, response to (MONDO:MONDO:0013732)", "pathway": " (hsa:113263)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12557054;16964243;17081983;18220336;18452278;18669648;18691976;18767875;19413330;19651622;19664994;19664995;19690332;20068231;21406692;21991891;22187997;22304573;22660954;22796022;23186163;23301498;23481700;24275569;24715725;25505266;25576301;26154972;26375851;26768311;28832583;28904123;29242379;29393594;29508533;29557506;29632711;29786170;29789417;30429286;31844290;32157095;32387766;32488085;32502341;32897882;32983136;33123756;33141586;33208131;33298915;33392160;33725570;33912179;33936100;33968037;34171305;34211107;34529984;35051231;36010968;36241641;37553950", "class_list": "", "function": "A functional GLCCI1 variant is associated with substantial decrements in the response to inhaled glucocorticoids in patients with asthma., [RefSeq, PubMed]; Effects of STIP1 and GLCCI1 polymorphisms on the risk of childhood asthma and inhaled corticosteroid response in Chinese asthmatic children. Publication Status: Online-Only, [RefSeq, PubMed]; GLCCI1 gene body methylation in peripheral blood is associated with asthma and asthma severity., [RefSeq, PubMed]; GLCCI1 nucleotide polymorphisms associated with steroid-responsiveness in asthmatic patients are unlikely to have a clinically actionable impact in pediatric nephrotic syndrome., [RefSeq, PubMed]; Glucocorticoid-Induced Transcript 1(GLCCI1) SNP rs37937 Is Associated With the Risk of Developing Allergic Rhinitis and the Response to Intranasal Corticosteroids in a Chinese Han Population., [RefSeq, PubMed]; Hsa_circ_001659 serves as a novel diagnostic and prognostic biomarker for colorectal cancer., [RefSeq, PubMed]; Studied the influence of GLCCI1 SNP rs37972 on dexamethasone efficacy in bacterial meningitis patients.Results show rs37972 in GLCCI1 is associated with death in patients with CA bacterial meningitis treated with adjunctive dexamethasone therapy., [RefSeq, PubMed]; This gene encodes a protein of unknown function. Expression of this gene is induced by glucocorticoids and may be an early marker for glucocorticoid-induced apoptosis. Single nucleotide polymorphisms in this gene are associated with a decreased response to inhaled glucocorticoids in asthmatic patients. [provided by RefSeq, Feb 2012]., [RefSeq]; Variation at GLCCI1 and FCER2 could lead personalized asthma treatment., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 34, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D103;Q96FD0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0098846 podocyte foot", "go_biological_process": "GO:0071333 cellular response to glucose stimulus", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q86VQ1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWJ2-1", "uniprot_id": [ { "id": "GCC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWJ2", "type": "external" } ], "mass": 195910.0, "length": 1684, "protein_name": "GRIP and coiled-coil domain-containing protein 2", "gene_name": "GCC2", "organism": "Human", "refseq_name": "GRIP and coiled-coil domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_852118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852118", "type": "external" } ], "gene_names_uniprotkb": "GCC2; KIAA0336; RANBP2L4", "gene_names_refseq": "GCC185; GCC2; RANBP2L4; REN53", "protein_names_uniprotkb": "GRIP and coiled-coil domain-containing protein 2; 185 kDa Golgi coiled-coil protein; CLL-associated antigen KW-11; CTCL tumor antigen se1-1; GCC185; Ran-binding protein 2-like 4; RanBP2L4; Renal carcinoma antigen NY-REN-53", "protein_names_refseq": "185 kDa Golgi coiled-coil protein; CLL-associated antigen KW-11; CTCL tumor antigen se1-1; GCC protein, 185-kD; GRIP and coiled-coil domain-containing protein 2 isoform 1; GRIP and coiled-coil domain-containing protein 2; Golgi coiled-coil protein GCC185; Ran-binding protein 2-like 4; renal carcinoma antigen NY-REN-53", "tax_id": 9606, "disease": "", "pathway": " (hsa:9648); (R-HSA-6811440); (R-HSA-9725370)", "pathway_count": 3, "publication_count": 264, "publication_id_list": "10209123;10216106;10445031;10508479;10556217;10559959;10637310;10702393;10706082;10706887;10865125;10934142;10990452;11110708;11149944;11237011;11280786;11303027;11310834;11346801;11359012;11504915;11689439;11751994;11827983;11839770;11850821;11943732;11988758;12070132;12112524;12185581;12200376;12377769;12424201;12446665;12620188;12620189;12750159;12800156;12920229;12934099;14580338;14718928;14962911;15029241;15037235;15077113;15077114;15128430;15169778;15208656;15269279;15374880;15483056;15588951;15654769;15758030;15870108;15878329;15895073;16042553;16129887;16153455;16161041;16170336;16571679;16825495;16871283;16885419;16912714;16936697;16939498;16964243;17086210;17353907;17416736;17451557;17483340;17488291;17543864;17562788;17625570;17684057;17698061;18097461;18195106;18243103;18256213;18367545;18452557;18491316;18593892;18594010;18664496;18669648;18691976;18701132;18724359;18923523;18923524;18923525;18946081;19164740;19456272;19459784;19490898;19620288;19703403;20068231;20454865;20685960;21134980;21164297;21183348;21213368;21406692;21415216;21421921;21436057;21494621;21596819;21656749;21689688;21807881;21838707;21847362;22159419;22249260;22327622;22335553;22347464;22354037;22570254;22581368;22658521;22717455;23091056;23104988;23139213;23186163;23201355;23239810;23437303;23481700;23661334;23957430;24060861;24445538;24475247;24496003;24518094;24613930;24714562;24715725;24736082;24794632;25342631;25343031;25393796;25421750;25505266;25576301;25645385;25813404;25880248;25892735;25921060;26001147;26062823;26154972;26301689;26375851;26653856;26728094;26992070;27105913;27245569;27573755;27600516;27846572;27874193;27893789;27920218;28218747;28228285;28404650;28514659;28659337;28741662;28832583;28834231;28904123;29242379;29393594;29437277;29455642;29493099;29508533;29557506;29632046;29769354;29786170;29789417;29873274;29930882;30131584;30315122;30379171;30429286;30524438;30692217;31154438;31217245;31366041;31840180;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35154160;35494241;35580925;36010968;36215666;36284347;37938771;7824924;7909812;8221884;8440258;8620540;8633037;8636227;8670882;9050864;9177194;9230071;9590177;9819383", "class_list": "", "function": "Deletion of the ARL4A-interacting region of GCC185 results in inability to maintain Golgi structure and modulate endosome-to-Golgi transport., [RefSeq, PubMed]; Golgin which probably tethers transport vesicles to the trans-Golgi network (TGN) and regulates vesicular transport between the endosomes and the Golgi. As a RAB9A effector it is involved in recycling of the mannose 6-phosphate receptor from the late endosomes to the TGN. May also play a role in transport between the recycling endosomes and the Golgi. Required for maintenance of the Golgi structure, it is involved in the biogenesis of noncentrosomal, Golgi-associated microtubules through recruitment of CLASP1 and CLASP2., [UniProtKB, PubMed, PubMed, PubMed]; In light of existing report suggesting critical role of Nef-GCC185 interaction reveals valuable mechanistic insights affecting specific protein transport pathway in docking of late endosome derived Rab9 bearing transport vesicle at TGN elucidating role of Nef during viral pathogenesis., [RefSeq, PubMed]; Rab and Arl GTPase family members cooperate in the localization of GCC2., [RefSeq, PubMed]; Results show that GCC185 contains at least six binding sites for as many as 14 different Rab GTPases across its entire length., [RefSeq, PubMed]; Targeting to subcompartments of trans-Golgi network by GRIP domain, [RefSeq, PubMed]; The co-localization of M6PR and of GCC2 with ASOs is influenced by the PS modifications, which have been shown to enhance the affinity of ASOs for proteins, suggesting that localization of these proteins to LEs is mediated by ASO-protein interactions. Reduction of M6PR levels also decreased PS-ASO activity in mouse cells and in livers of mice treated subcutaneously with PS-ASO, indicating a conserved mechanism., [RefSeq, PubMed]; The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]., [RefSeq]; These unexpected features support a model in which GCC185 collapses onto the Golgi surface, perhaps by binding to Rab GTPases, to mediate vesicle tethering. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6H8X8;O15045;Q4ZG46;Q8TDH3;Q9H2G8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006622 protein targeting to lysosome;GO:0042147 retrograde transport, endosome to Golgi;GO:0090161 Golgi ribbon formation;GO:0034067 protein localization to Golgi apparatus;GO:0034453 microtubule anchoring", "synthesized_glycan_count": 0, "hit_score": 26.7, "record_id": "Q8IWJ2-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14831-1", "uniprot_id": [ { "id": "GRM7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14831", "type": "external" } ], "mass": 102251.0, "length": 915, "protein_name": "Metabotropic glutamate receptor 7", "gene_name": "GRM7", "organism": "Human", "refseq_name": "metabotropic glutamate receptor 7 isoform a precursor", "refseq_ac": [ { "id": "NP_000835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000835", "type": "external" } ], "gene_names_uniprotkb": "GRM7; GPRC1G; MGLUR7", "gene_names_refseq": "GLUR7; GPRC1G; GRM7; MGLU7; MGLUR7; NEDSHBA; PPP1R87", "protein_names_uniprotkb": "Metabotropic glutamate receptor 7; mGluR7", "protein_names_refseq": "glutamate receptor, metabotropic 7; metabotropic glutamate receptor 7 isoform a precursor; metabotropic glutamate receptor 7; protein phosphatase 1, regulatory subunit 87", "tax_id": 9606, "disease": "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (MONDO:MONDO:0030063)", "pathway": " (hsa:2917); (R-HSA-418594); (R-HSA-420499)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "11007482;11163549;11208605;11237011;11917125;12021391;12052533;12120503;1329206;15194188;15576628;15951850;16634148;16923326;18434541;18491316;18577758;19664994;20022913;20555319;21148030;23121374;23674604;24235081;2534964;27071541;27435318;2748346;28097321;2834384;28904123;29557506;29614098;31844290;32286009;33392160;33476302;33500274;35494241;37003303;37217939;37882887;38070825;7476890;7617140;7620613;7623957;7759551;7908515;7937899;8015379;8406495;8840028;8887960;9131252;9144337;9144651;9144652;9473604;9844003;9872316", "class_list": "", "function": "Associations between GRM7 polymorphisms and obesity in patients selected for sleeve gastrectomy., [RefSeq, PubMed]; G protein-coupled receptor activated by glutamate that regulates axon outgrowth through the MAPK-cAMP-PKA signaling pathway during neuronal development (PubMed:33500274). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase that it inhibits (PubMed:9473604)., [UniProtKB, PubMed, PubMed]; GRM7 gene mutations and consequences for neurodevelopment. Review article, [RefSeq, PubMed]; GRM7-related disorder: five additional patients from three independent families and review of the literature. Review article, [RefSeq, PubMed]; Identified additional splicing variants involving the 3' end of the GRM7 coding sequence and resulting in three putative novel isoforms., [RefSeq, PubMed]; L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 52, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q8NFS2;Q8NFS3;Q8NFS4", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0005509 calcium ion binding;GO:0030165 PDZ domain binding;GO:0016595 glutamate binding;GO:0001642 group III metabotropic glutamate receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0016020 membrane;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007268 chemical synaptic transmission;GO:0014050 negative regulation of glutamate secretion;GO:0007605 sensory perception of sound;GO:0051966 regulation of synaptic transmission, glutamatergic", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q14831-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08754-1", "uniprot_id": [ { "id": "GNAI3_HUMAN", "url": "https://www.uniprot.org/uniprot/P08754", "type": "external" } ], "mass": 40532.0, "length": 354, "protein_name": "Guanine nucleotide-binding protein G(i) subunit alpha-3", "gene_name": "GNAI3", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(i) subunit alpha-3", "refseq_ac": [ { "id": "NP_006487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006487", "type": "external" } ], "gene_names_uniprotkb": "GNAI3", "gene_names_refseq": "87U6; ARCND1; ARCODS; GNAI3; HG1A", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(i) subunit alpha-3; G(i) alpha-3", "protein_names_refseq": "g(i) alpha-3; guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3; guanine nucleotide-binding protein G(i) subunit alpha-3; guanine nucleotide-binding protein G(i) subunit alpha; guanine nucleotide-binding protein G(k) subunit alpha; heterotrimeric guanine nucleotide-binding protein 1A", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); McCune Albright syndrome (Disease Ontology:DOID:1858); auriculocondylar syndrome 1 (MONDO:MONDO:0011234)", "pathway": " (hsa:2773); (R-HSA-170670); (R-HSA-392170); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-9009391); (R-HSA-9634597); (R-HSA-9660821)", "pathway_count": 9, "publication_count": 273, "publication_id_list": "10319328;10427092;10496952;10714768;10749889;10806474;10954748;11007482;11029009;11029403;11043579;11044445;11185956;11196645;11313909;11369763;11689445;11773440;11773442;11773443;11825873;11981029;12036966;12048194;12058044;12106601;12120503;12180353;12388769;12421825;12431978;12511868;12560222;12588983;12682286;12808053;12860470;12881510;1325798;1347957;13549488;1378832;14573771;14671004;14675202;14764897;15033483;15044318;15090535;1517224;15231873;15245432;15314172;15467163;15496458;15539556;15569929;15657067;15705661;15705806;15765929;15769620;15951850;15956360;16239258;16274718;16313925;1658606;16634148;16636149;16645038;16687412;16835357;16870394;16923326;17037979;17168849;17230639;17379646;17424910;17525128;17535799;17635935;17916740;17921256;18044684;18083107;18206197;18434541;18566127;18577758;18657504;19105585;19138696;19211784;19342448;1939224;19478087;19741198;19876791;19879889;19929708;19931550;20381629;20439495;20462955;20650261;20861220;21036126;2163110;21680538;21844907;21851428;22028449;22031296;22266855;22446104;22495674;22560091;22952234;23315542;24039841;24141704;2417744;24273487;2440724;2452165;24530924;24687066;2491850;24962572;25187647;25255805;2534964;2535845;25418920;25502872;2553411;2553705;25587652;25892735;26126266;26154972;26190834;26375851;26417854;26987903;26992070;27288742;27392633;2748346;27864364;28218747;28228285;2834384;28411811;28450397;28502923;28539435;28595943;28649982;2871555;28832583;29242379;29351928;29393594;29437277;29443750;29493099;29557506;29602314;29632046;29738483;29786170;30194280;30315122;30429286;30484775;30779550;30833945;30833991;3109953;31154438;3120178;31222486;3127824;31279028;3132707;31399091;31844290;31848261;31983287;31998317;32157095;32226383;32350084;32357974;32387766;32488085;32497535;32502341;32540603;32618402;32715661;32897882;32938616;32983136;33049737;33465208;33537174;33592498;33912179;33936100;33968037;33981976;34087483;34357683;34433824;34509645;34725712;34789173;34932366;35051231;35083852;35154160;35170830;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37137991;37153740;37923359;38636252;38665916;40596516;40914422;6085243;7526779;7559455;7568118;7595566;7651538;7750475;7937899;8007951;8015379;8119955;8327893;8340388;8406495;8514797;8522976;8527267;8554519;8598224;8672451;8702633;8774883;8782602;8876252;9173876;9263355;9395517;9417641;9565625;9616126;9651336;9865521", "class_list": "", "function": "GNAI3 mediated by Lin28A regulates lipopolysaccharide-induced inflammation and osteogenic differentiation in periodontal stem cells by mediating the NF-kappaB/NLRP3 inflammasome pathway., [RefSeq, PubMed]; Galphai1/3 mediate Netrin-1-CD146-activated signaling and angiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]., [RefSeq]; Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal (By similarity). Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:18434541, PubMed:19478087, PubMed:8774883). Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (PubMed:19478087). Stimulates the activity of receptor-regulated K(+) channels (PubMed:2535845). The active GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. May play a role in cell division (PubMed:17635935). The active GTP-bound form activates the calcium permeant TRPC5 ion channels (PubMed:37137991)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Integrins regulate hERG1 dynamics by girdin-dependent Galphai3: signaling and modeling in cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "P17539;Q5TZX1", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0001664 G protein-coupled receptor binding;GO:0031683 G-protein beta/gamma-subunit complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007194 negative regulation of adenylate cyclase activity;GO:0051301 cell division;GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway;GO:0016239 positive regulation of macroautophagy", "synthesized_glycan_count": 0, "hit_score": 27.9, "record_id": "P08754-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YW7-1", "uniprot_id": [ { "id": "GPHB5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YW7", "type": "external" } ], "mass": 14232.0, "length": 130, "protein_name": "Glycoprotein hormone beta-5", "gene_name": "GPHB5", "organism": "Human", "refseq_name": "glycoprotein hormone beta-5 precursor", "refseq_ac": [ { "id": "NP_660154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660154", "type": "external" } ], "gene_names_uniprotkb": "GPHB5; GPB5; ZLUT1", "gene_names_refseq": "B5; GPB5; GPHB5; ZLUT1", "protein_names_uniprotkb": "Glycoprotein hormone beta-5; Thyrostimulin subunit beta", "protein_names_refseq": "glycoprotein beta 5; glycoprotein hormone beta 5; glycoprotein hormone beta subunit; glycoprotein hormone beta-5 precursor; thyrostimulin subunit beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:122876); (R-HSA-375281); (R-HSA-418555)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "11007482;11707068;11726197;12036966;12039074;12045258;12058044;12089349;12106601;12180353;12860470;1333190;13549488;14671004;1517224;15765929;15769620;15890769;15951850;16210345;16313925;16687412;16923326;1709010;17095587;17168849;18044684;18433898;18577758;19006286;19095738;19105585;1922095;19876791;19929708;20381629;21036126;2163110;21657270;2244890;2417744;24687066;2491850;2553411;2553705;2558651;25811175;26398856;26417854;26774084;2871555;29443750;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32488085;32497535;32540603;32618402;32715661;33049737;35757403;36568071;38194289;6085243;6090951;7649152;8188646;8340388;8514797;8672451;8702611;9263355;9300077;9417641;9419371;9651336", "class_list": "", "function": "Dual site-disrupted GPA2 and the GPB5 mutant were not expressed in either the conditioned medium or cell lysate., [RefSeq, PubMed]; Elevated circulating GPHB5 levels in women with insulin resistance and polycystic ovary syndrome: A cross-sectional study and multiple intervention studies. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a heterodimeric glycoprotein hormone with GPHA2 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production. Plays a central role in controlling thyroid cell metabolism., [UniProtKB, PubMed, PubMed]; GPHB5 Is a Biomarker in Women With Metabolic Syndrome: Results From Cross-Sectional and Intervention Studies. Publication Status: Online-Only, [RefSeq, PubMed]; GPHB5 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008]., [RefSeq]; Identification and characterization of GPB5 genes, [RefSeq, PubMed]; Inflammatory cytokines positively regulate thyrostimulin through NF-kappaB activation., [RefSeq, PubMed]; Srosophila GPA2/GPB5 heterodimers did not activate human TSH or gonadotropin receptors, chimeric fly GPA2/human GPB5 heterodimers stimulated human TSH receptors. (GPA2 in drosophila), [RefSeq, PubMed]; Thyrostimulin, a heterodimer of two new human glycoprotein hormone subunits, activates the thyroid-stimulating hormone receptor (thyrostimulin), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6NTD0;Q8NFW2", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0005179 hormone activity;GO:0031531 thyrotropin-releasing hormone receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q86YW7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86V97-1", "uniprot_id": [ { "id": "KBTB6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86V97", "type": "external" } ], "mass": 76138.0, "length": 674, "protein_name": "Kelch repeat and BTB domain-containing protein 6", "gene_name": "KBTBD6", "organism": "Human", "refseq_name": "kelch repeat and BTB domain-containing protein 6", "refseq_ac": [ { "id": "NP_690867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690867", "type": "external" } ], "gene_names_uniprotkb": "KBTBD6", "gene_names_refseq": "KBTBD6", "protein_names_uniprotkb": "Kelch repeat and BTB domain-containing protein 6", "protein_names_refseq": "kelch repeat and BTB (POZ) domain containing 6; kelch repeat and BTB domain-containing protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:89890); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 182, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24714562;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25576301;25645385;25684205;25880248;26154972;26344709;26375851;26460955;26632597;26906416;26992070;27030794;27222660;27397612;27565346;27846572;27893789;28115426;28228285;28832583;28834231;28904123;29153394;29242379;29437277;29557506;29786170;30315122;30429286;30524438;30610225;30779550;31154438;31844290;31848261;32005965;32157095;32161166;32284348;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33392160;33444648;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34185709;34509645;34932366;35051231;35318648;35580925;36010968;36284347;37938771;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "As part of the CUL3(KBTBD6/7) E3 ubiquitin ligase complex functions as a substrate adapter for the RAC1 guanine exchange factor (GEF) TIAM1, mediating its 'Lys-48' ubiquitination and proteasomal degradation (PubMed:25684205). By controlling this ubiquitination, regulates RAC1 signal transduction and downstream biological processes including the organization of the cytoskeleton, cell migration and cell proliferation (PubMed:25684205). Ubiquitination of TIAM1 requires the membrane-associated protein GABARAP which may restrict locally the activity of the complex (PubMed:25684205)., [UniProtKB, PubMed]; KBTBD6 and KBTBD7 specifically bind to GABARAP proteins.KBTBD6 and KBTBD7 form a heterodimeric CRL3 complex., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T6Y8;Q8N8L0;Q8NDM5;Q96MP6", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0009968 negative regulation of signal transduction;GO:0070936 protein K48-linked ubiquitination;GO:0035020 regulation of Rac protein signal transduction;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "Q86V97-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVZ9-1", "uniprot_id": [ { "id": "KBTB7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVZ9", "type": "external" } ], "mass": 77163.0, "length": 684, "protein_name": "Kelch repeat and BTB domain-containing protein 7", "gene_name": "KBTBD7", "organism": "Human", "refseq_name": "kelch repeat and BTB domain-containing protein 7", "refseq_ac": [ { "id": "NP_115514", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115514", "type": "external" } ], "gene_names_uniprotkb": "KBTBD7", "gene_names_refseq": "KBTBD7", "protein_names_uniprotkb": "Kelch repeat and BTB domain-containing protein 7", "protein_names_refseq": "kelch repeat and BTB (POZ) domain containing 7; kelch repeat and BTB domain-containing protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:84078); (R-HSA-5658442); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 4, "publication_count": 181, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11230166;11259415;11292861;11292862;11350924;11454738;11493923;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12600938;12609982;12646216;12646235;12682069;12759363;12787671;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15683364;15688063;15694336;1570011;15799966;16171779;16401342;16478641;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19573811;19617556;19748355;19851334;19874575;19940261;20132730;2121370;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22751498;22802525;22959436;23186163;23201271;23333871;23401859;23443682;23453757;23535662;23535663;23563313;23583660;23661552;23912815;23986495;24076655;24366543;24636985;24793695;24793696;24814062;25314029;25349211;25355947;25531226;25684205;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27862975;28115426;28904123;29153394;29493099;29557506;30315122;30410026;30429286;30610225;31844290;32005965;32157095;32284348;32357974;32387766;32502341;32897882;32938616;33091337;33392160;33444648;33537174;33691108;33717175;33912179;33981976;34087483;34932366;35051231;35318648;35499228;35580925;36010968;36241641;36284347;36581221;38652964;8563751;9219684;9302992;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "As part of the CUL3(KBTBD6/7) E3 ubiquitin ligase complex functions as a substrate adapter for the RAC1 guanine exchange factor (GEF) TIAM1, mediating its 'Lys-48' ubiquitination and proteasomal degradation (PubMed:25684205). By controlling this ubiquitination, regulates RAC1 signal transduction and downstream biological processes including the organization of the cytoskeleton, cell migration and cell proliferation (PubMed:25684205). Ubiquitination of TIAM1 requires the membrane-associated protein GABARAP which may restrict locally the activity of the complex (PubMed:25684205)., [UniProtKB, PubMed]; KBTBD6 and KBTBD7 specifically bind to GABARAP proteins.KBTBD6 and KBTBD7 form a heterodimeric CRL3 complex., [RefSeq, PubMed]; KBTBD7 promotes non-small cell lung carcinoma progression by enhancing ubiquitin-dependent degradation of PTEN. Erratum:[Cancer Med. 2024 Sep;13(17):e7462. doi: 10.1002/cam4.7462. PMID: 39248706], [RefSeq, PubMed]; KBTBD7 proteins may act as a new transcriptional activator in mitogen-activated protein kinase (MAPK) signaling., [RefSeq, PubMed]; Knockdown of KBTBD7 attenuates septic lung injury by inhibiting ferroptosis and improving mitochondrial dysfunction., [RefSeq, PubMed]; The protein encoded by this gene is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B5TZ86;Q5T6Y7;Q8NB99;Q9H0I6", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0009968 negative regulation of signal transduction;GO:0070936 protein K48-linked ubiquitination;GO:0035020 regulation of Rac protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 18.2, "record_id": "Q8WVZ9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15297-1", "uniprot_id": [ { "id": "PPM1D_HUMAN", "url": "https://www.uniprot.org/uniprot/O15297", "type": "external" } ], "mass": 66675.0, "length": 605, "protein_name": "Protein phosphatase 1D", "gene_name": "PPM1D", "organism": "Human", "refseq_name": "protein phosphatase 1D", "refseq_ac": [ { "id": "NP_003611", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003611", "type": "external" } ], "gene_names_uniprotkb": "PPM1D; WIP1", "gene_names_refseq": "IDDGIP; JDVS; PP2C-DELTA; PPM1D; WIP1", "protein_names_uniprotkb": "Protein phosphatase 1D; 3.1.3.16; PP2C-delta; Protein phosphatase 2C isoform delta; Protein phosphatase magnesium-dependent 1 delta; p53-induced protein phosphatase 1", "protein_names_refseq": "protein phosphatase 1D; protein phosphatase Wip1; wild-type p53-induced phosphatase 1", "tax_id": 9606, "disease": "pre-malignant neoplasm (Disease Ontology:DOID:0060071); breast cancer (Disease Ontology:DOID:1612); ovarian cancer (Disease Ontology:DOID:2394); intellectual developmental disorder with gastrointestinal difficulties and high pain threshold (MONDO:MONDO:0044318)", "pathway": " (hsa:8493); (R-HSA-8878166)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11857736;12391164;12434152;12434156;15030764;15870257;16311512;16407259;17142326;17171635;18223689;19007248;19144722;19690332;21283629;21913213;22065775;22544321;23186163;23242139;24850862;25576301;26154972;26992070;27600516;27846572;28218747;28228285;28343630;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29789417;30379171;30410026;30429286;30779550;30833945;31154438;31217245;31844290;31848261;32157095;32357974;32387766;32488085;32897882;32938616;33298915;33633747;33691108;33936100;33968037;33981976;34087483;34171305;34185709;34509645;34932366;35051231;35561310;35580925;36010968;36241641;36284347;37595362;37938771;38132396;38896450;38943814;39237765;9177166;9182764;9207800", "class_list": "", "function": "Involved in the negative regulation of p53 expression (PubMed:23242139). Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of these proteins (PubMed:15870257, PubMed:16311512). Mediates MAPK14 dephosphorylation and inactivation (PubMed:21283629). Is also an important regulator of global heterochromatin silencing and critical in maintaining genome integrity (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Low-Frequency PPM1D Gene Mutations Affect Treatment Response to CD19-Targeted CAR T-Cell Therapy in Large B-Cell Lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; PPM1D activity promotes cellular transformation by preventing senescence and cell death., [RefSeq, PubMed]; PPM1D modulates hematopoietic cell fitness and response to DNA damage and is a therapeutic target in myeloid malignancy., [RefSeq, PubMed]; SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia cells. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008]., [RefSeq]; WIP1-mediated regulation of p38 MAPK signaling attenuates pyroptosis in sepsis-associated acute kidney injury., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q53XP4;Q6P991;Q8IVR6", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0046872 metal ion binding;GO:0051019 mitogen-activated protein kinase binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0004721 phosphoprotein phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0006470 protein dephosphorylation;GO:1902531 regulation of intracellular signal transduction;GO:0009267 cellular response to starvation;GO:0045814 negative regulation of gene expression, epigenetic", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "O15297-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17987-1", "uniprot_id": [ { "id": "TCPA_HUMAN", "url": "https://www.uniprot.org/uniprot/P17987", "type": "external" } ], "mass": 60344.0, "length": 556, "protein_name": "T-complex protein 1 subunit alpha", "gene_name": "TCP1", "organism": "Human", "refseq_name": "T-complex protein 1 subunit alpha isoform a", "refseq_ac": [ { "id": "NP_110379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110379", "type": "external" } ], "gene_names_uniprotkb": "TCP1; CCT1; CCTA", "gene_names_refseq": "CCT-alpha; CCT1; CCTa; D6S230E; IDDPMGS; TCP-1-alpha; TCP1", "protein_names_uniprotkb": "T-complex protein 1 subunit alpha; 3.6.1.-; CCT-alpha; Chaperonin containing T-complex polypeptide 1 subunit 1; TCP-1-alpha", "protein_names_refseq": "T-complex protein 1 subunit alpha isoform a; T-complex protein 1 subunit alpha; T-complex protein 1, alpha subunit; chaperonin containing T-complex polypeptide 1 subunit 1; t-complex 1 protein; tailless complex polypeptide 1", "tax_id": 9606, "disease": "intellectual developmental disorder with polymicrogyria and seizures (MONDO:MONDO:0976124)", "pathway": " (hsa:6950); (R-HSA-389957); (R-HSA-389960); (R-HSA-390450); (R-HSA-390471); (R-HSA-5620922); (R-HSA-6814122); (R-HSA-8950505)", "pathway_count": 8, "publication_count": 171, "publication_id_list": "11237011;11252952;12502735;12665801;12816978;14532270;14654843;15258860;15314642;15889144;16038020;1630491;1630492;16408927;16702223;16717095;16959974;17081983;17377532;17574030;18088087;18452278;18669648;18775504;19011634;1901944;19081074;19376773;19421068;19575670;19608861;19651622;19690332;20068231;20080638;20112406;20233871;20603001;21098288;21406692;21427764;21995946;22072986;22139371;22223895;22389062;22500027;22898188;23186163;23301498;23351793;23637185;23747015;2377466;24275569;24296415;24715725;24756126;25342745;25418920;25443296;25446516;25467444;25505266;25576301;25645385;25659125;25675501;25802875;25810538;25880248;26154972;26375851;26552660;26758079;26992070;27090790;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30192525;30315122;30397120;30484775;30573663;30779550;30833945;31154438;31217245;31222486;31530632;31611695;31717259;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33141586;33144677;33214551;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34612770;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35449234;35580925;36010968;36215666;36241641;36284347;36493755;3653076;37193829;37217939;37938771;38387902;38665916;39033992;39480921;39990658;40914422;9153422;9819444", "class_list": "", "function": "A paper describing a pathway in which this gene product functions, [RefSeq, PubMed, PubMed]; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis (PubMed:25467444, PubMed:36493755, PubMed:35449234, PubMed:37193829). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Low expression of TCP1 (T-Complex 1) and PSMC1 (Proteasome 26S subunit, ATPase 1) in heterotopic ossification during ankylosing spondylitis., [RefSeq, PubMed]; METTL14-mediated N6-methyladenosine modification of TCP1 mRNA promotes acute myeloid leukemia progression., [RefSeq, PubMed]; The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, three pseudogenes that appear to be derived from this gene have been found. [provided by RefSeq, Jun 2010]., [RefSeq]; [The Effect of TCP1 Expression on the Proliferation and the Accumulation of Intracellular Drug of HL60/A and HL60 Cell and Its Mechanism]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1P5B2;Q15556;Q5TCM3", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "1.2.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.12", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.45", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.46", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.1.91", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.91", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0051082 unfolded protein binding;GO:0016887 ATP hydrolysis activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0070062 extracellular exosome", "go_biological_process": "GO:0090666 scaRNA localization to Cajal body;GO:1904871 positive regulation of protein localization to Cajal body;GO:0032212 positive regulation of telomere maintenance via telomerase;GO:0050821 protein stabilization;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "P17987-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3C7-1", "uniprot_id": [ { "id": "GGNB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3C7", "type": "external" } ], "mass": 79086.0, "length": 697, "protein_name": "Gametogenetin-binding protein 2", "gene_name": "GGNBP2", "organism": "Human", "refseq_name": "gametogenetin-binding protein 2", "refseq_ac": [ { "id": "NP_079111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079111", "type": "external" } ], "gene_names_uniprotkb": "GGNBP2; LCRG1; LZK1; ZNF403", "gene_names_refseq": "DIF-3; DIF3; GGNBP2; LCRG1; LZK1; ZFP403; ZNF403", "protein_names_uniprotkb": "Gametogenetin-binding protein 2; Laryngeal carcinoma-related protein 1; Protein ZNF403", "protein_names_refseq": "C3HC4-type zinc finger protein; gametogenetin-binding protein 2; laryngeal carcinoma related gene 1; laryngeal carcinoma-related protein 1; zinc finger protein 403", "tax_id": 9606, "disease": "", "pathway": " (hsa:79893)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "11237011;15145523;18669648;19664994;19664995;22350815;23186163;24842157;25576301;25645385;25880248;25892735;26154972;26992070;27357812;27846572;27862975;27920218;28832583;28855257;28864131;28904123;29242379;29393594;29493099;29557506;29786170;30315122;30450530;31797427;31844290;32157095;32387766;32488085;32502341;32938616;32983136;33125130;33141586;33392160;33592498;33633747;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34211107;34509645;35051231;35580925;36010968;36215666;36241641;37938771", "class_list": "", "function": "Effects of gametogenetin-binding protein 2 on proliferation, invasion and migration of prostate cancer PC-3 cells., [RefSeq, PubMed]; Effects of zinc finger protein 403 on the proliferation, migration and invasion abilities of prostate cancer cells., [RefSeq, PubMed]; LCRG1 is a novel gene localized to the tumor suppressor locus D17S800-D17S930 involved in laryngeal carcinoma., [RefSeq, PubMed]; May be involved in spermatogenesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Our data demonstrate that GGNBP2 suppresses cancer aggressiveness by inhibition of IL-6/STAT3 activation in triple-negative breast cancer, [RefSeq, PubMed]; Results identified GGNBP2 as a novel tumor suppressor which is downregulated in human breast tumors and cell lines and suggest that GGNBP2 may function as a corepressor to inhibit ERa's transcriptional activity and consequently inhibit tumorigenic potential of breast cancer cells., [RefSeq, PubMed]; Results show that downregulation of RNASET2 and GGNBP2 in drug-resistant ovarian cancer tissues/cells contributes to the regulation of drug resistance in ovarian cancer., [RefSeq, PubMed]; The effects of ZFP403 on cell proliferation and metastasis suggest that it may serve as a tumor suppressor in ovarian cancer., [RefSeq, PubMed]; There is an essential role for ZNF403 in cell proliferation and G2/M cell-cycle transition., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RPK7;Q96T90;Q9GZR8;Q9H767", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9H3C7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95866-1", "uniprot_id": [ { "id": "G6B_HUMAN", "url": "https://www.uniprot.org/uniprot/O95866", "type": "external" } ], "mass": 26163.0, "length": 241, "protein_name": "Megakaryocyte and platelet inhibitory receptor G6b", "gene_name": "MPIG6B", "organism": "Human", "refseq_name": "megakaryocyte and platelet inhibitory receptor G6b isoform G6b-A precursor", "refseq_ac": [ { "id": "NP_079536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079536", "type": "external" } ], "gene_names_uniprotkb": "MPIG6B; C6orf25; G6B-B; G6B", "gene_names_refseq": "C6orf25; G6b-B; G6b; MPIG6B; NG31; THAMY", "protein_names_uniprotkb": "Megakaryocyte and platelet inhibitory receptor G6b; Protein G6b", "protein_names_refseq": "immunoglobulin receptor; megakaryocyte and platelet inhibitory receptor G6b isoform G6b-A precursor; protein G6b", "tax_id": 9606, "disease": "thrombocytopenia, anemia, and myelofibrosis (MONDO:MONDO:0044316)", "pathway": " (hsa:80739); (R-HSA-114604)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10026222;10469124;11237011;11262396;11481033;11544253;12665801;12813055;12832405;14656967;15708849;15848171;16174766;16938345;17311996;17616532;18088087;18589439;1874735;18955485;19409513;19700402;19850008;22267732;23090970;23112346;27743390;2841328;28736554;29557506;29632711;29898956;30459171;31276734;31436532;32386542;32897882;32938616;33871931;7624799;8246984;8617742;8673706;8986718;8990121;9028946;9438848;9768361;9895304", "class_list": "", "function": "Autosomal recessive loss-of-function mutations in G6b-B (MPIG6B) cause congenital macrothrombocytopenia with focal myelofibrosis. G6b-B has orthologous physiological functions in human and mice regulating megakaryocyte and platelet production and function., [RefSeq, PubMed]; Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly., [RefSeq, PubMed]; Detrimental variants in MPIG6B in two children with myelofibrosis: Does immune dysregulation contribute to myelofibrosis?, [RefSeq, PubMed]; Inhibitory receptor that acts as a critical regulator of hematopoietic lineage differentiation, megakaryocyte function and platelet production (PubMed:12665801, PubMed:17311996, PubMed:27743390). Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide (PubMed:12665801). This regulation of megakaryocate function as well as platelet production ann activation is done through the inhibition (via the 2 ITIM motifs) of the receptors CLEC1B and GP6:FcRgamma signaling (PubMed:17311996). Appears to operate in a calcium-independent manner (PubMed:12665801)., [UniProtKB, PubMed, PubMed, PubMed]; Isoform B, displayed in this entry, is the only isoform to contain both a transmembrane region and 2 immunoreceptor tyrosine-based inhibitor motifs (ITIMs) and, thus, the only one which probably has a role of inhibitory receptor. Isoform A may be the activating counterpart of isoform B., [UniProtKB, PubMed]; Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets., [RefSeq, PubMed]; This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Using platelets from humans and genetically modified mice, we demonstrate that binding of G6b-B to heparan sulfate and multivalent heparin inhibits platelet and megakaryocyte function by inducing downstream signaling via the tyrosine phosphatases Shp1 and Shp2. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A2BEZ1;A2BEZ2;A2BEZ3;A2BEZ4;A2BEZ5;B0UXC4;B0UXC7;B0UXC8;B0V024;B0V026;Q14CK2;Q96A86;Q96A87;Q96A88;Q96A89;Q96A90;Q96A91", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0030219 megakaryocyte differentiation;GO:0007229 integrin-mediated signaling pathway;GO:0007596 blood coagulation;GO:0030218 erythrocyte differentiation;GO:0035855 megakaryocyte development", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O95866-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QZ7-1", "uniprot_id": [ { "id": "MAGI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QZ7", "type": "external" } ], "mass": 164581.0, "length": 1491, "protein_name": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1", "gene_name": "MAGI1", "organism": "Human", "refseq_name": "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 isoform c", "refseq_ac": [ { "id": "NP_001028229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028229", "type": "external" } ], "gene_names_uniprotkb": "MAGI1; AIP3; BAIAP1; BAP1; TNRC19", "gene_names_refseq": "AIP-3; AIP3; BAIAP1; BAP-1; BAP1; MAGI-1b; MAGI-1; MAGI1; Magi1d; TNRC19; WWP3", "protein_names_uniprotkb": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1; AIP-3; Atrophin-1-interacting protein 3; BAI1-associated protein 1; BAP-1; MAGI-1; Membrane-associated guanylate kinase inverted 1; Trinucleotide repeat-containing gene 19 protein; WW domain-containing protein 3; WWP3", "protein_names_refseq": "BAI1-associated protein 1; WW domain-containing protein 3; atrophin-1-interacting protein 3; membrane-associated guanylate kinase inverted 1; membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 isoform c; trinucleotide repeat-containing gene 19 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9223)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11168587;11237011;11969287;12042308;12773569;14627983;15317815;16043488;16751601;21406692;23186163;23873930;24275569;24561201;25576301;26992070;28218747;29242379;29437277;29557506;30315122;30379171;30410026;30779550;31154438;31530632;31844290;32161166;32294469;32938616;33298915;33592498;33968037;34357683;35051231;36241641;37217939;37566008;38253038;38325349;41546072;9169421;9647693;9647739", "class_list": "", "function": "MAGI1 Prevents Senescence and Promotes the DNA Damage Response in ER[+] Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-205-5p-Mediated MAGI1 Inhibition Attenuates the Injury Induced by Diabetic Nephropathy., [RefSeq, PubMed]; Plays a role in coupling actin fibers to cell junctions in endothelial cells, via its interaction with AMOTL2 and CDH5 (By similarity). May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K188;O00309;O43863;O75085;Q96QZ8;Q96QZ9", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0051393 alpha-actinin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005912 adherens junction", "go_biological_process": "GO:0022409 positive regulation of cell-cell adhesion;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0001886 endothelial cell morphogenesis", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q96QZ7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YR5-1", "uniprot_id": [ { "id": "GPSM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YR5", "type": "external" } ], "mass": 74510.0, "length": 675, "protein_name": "G protein-signaling modulator 1", "gene_name": "GPSM1", "organism": "Human", "refseq_name": "G-protein-signaling modulator 1 isoform a", "refseq_ac": [ { "id": "NP_001139110", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139110", "type": "external" } ], "gene_names_uniprotkb": "GPSM1; AGS3", "gene_names_refseq": "AGS3; GPSM1", "protein_names_uniprotkb": "G protein-signaling modulator 1; Activator of G protein signaling 3", "protein_names_refseq": "G-protein signalling modulator 1 (AGS3-like, C. elegans); G-protein-signaling modulator 1 isoform a; activator of G-protein signaling 3", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); brain cancer (Disease Ontology:DOID:1319); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:26086); (R-HSA-418594)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10969064;11007482;11024022;11237011;12120503;12642577;12925752;15951850;16458856;16634148;16923326;18434541;18566450;18577758;18669648;19367720;19690332;23186163;23783831;2534964;26992070;2748346;2834384;29493099;30779550;31844290;32387766;32502341;32897882;32938616;33220708;33592498;33968037;34257610;35051231;36010968;36284347;36758790;38264908;7937899;8015379;8406495", "class_list": "", "function": "AGS3 is involved in an early event during the autophagic pathway probably prior to the formation of the autophagosome., [RefSeq, PubMed]; Cortical localization in mitotic cell culture systems and requirement for normal cell cycle progression, [RefSeq, PubMed]; Depletion of GPSM1 enhances ovarian granulosa cell apoptosis via cAMP-PKA-CREB pathway in vitro. Publication Status: Online-Only, [RefSeq, PubMed]; G-protein signaling modulator 1 promotes colorectal cancer metastasis by PI3K/AKT/mTOR signaling and autophagy., [RefSeq, PubMed]; G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]; Guanine nucleotide dissociation inhibitor (GDI) which functions as a receptor-independent activator of heterotrimeric G-protein signaling. Keeps G(i/o) alpha subunit in its GDP-bound form thus uncoupling heterotrimeric G-proteins signaling from G protein-coupled receptors. Controls spindle orientation and asymmetric cell fate of cerebral cortical progenitors. May also be involved in macroautophagy in intestinal cells. May play a role in drug addiction., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Knockdown of GPSM1 Inhibits the Proliferation and Promotes the Apoptosis of B-Cell Acute Lymphoblastic Leukemia Cells by Suppressing the ADCY6-RAPGEF3-JNK Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Properties of biomolecular condensates defined by Activator of G-protein Signaling 3., [RefSeq, PubMed]; The GPR motif in this protein and other proteins is actually associated with activity as a GDI - guanine nucleotide dissociation inhibitor and not GTPase activator as initially suggested., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A9Z1X4;B1B0W3;Q86SR5;Q969T1;Q9UFS8", "ec_number_list": [], "go_molecular_function": "GO:0001965 G-protein alpha-subunit binding;GO:0005092 GDP-dissociation inhibitor activity;GO:0030695 GTPase regulator activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0016239 positive regulation of macroautophagy;GO:0034260 negative regulation of GTPase activity;GO:0000132 establishment of mitotic spindle orientation", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q86YR5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75899-1", "uniprot_id": [ { "id": "GABR2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75899", "type": "external" } ], "mass": 105821.0, "length": 941, "protein_name": "Gamma-aminobutyric acid type B receptor subunit 2", "gene_name": "GABBR2", "organism": "Human", "refseq_name": "gamma-aminobutyric acid type B receptor subunit 2 precursor", "refseq_ac": [ { "id": "NP_005449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005449", "type": "external" } ], "gene_names_uniprotkb": "GABBR2; GPR51; GPRC3B", "gene_names_refseq": "DEE59; EIEE59; GABABR2; GABBR2; GPR51; GPRC3B; HG20; HRIHFB2099; NDPLHS", "protein_names_uniprotkb": "Gamma-aminobutyric acid type B receptor subunit 2; G protein-coupled receptor 51; GABA-B receptor 2; GABA-B-R2; GABA-BR2; GABABR2; Gb2; HG20", "protein_names_refseq": "G-protein coupled receptor 51; GABA-B receptor 2; GABA-B receptor, R2 subunit; GABA-B-R2; GABA-BR2; gamma-aminobutyric acid (GABA) B receptor, 2; gamma-aminobutyric acid B receptor 2; gamma-aminobutyric acid type B receptor subunit 2 precursor; gb2", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); developmental and epileptic encephalopathy 59 (Disease Ontology:DOID:0080291); alcohol use disorder (Disease Ontology:DOID:1574); neurodevelopmental disorder with poor language and loss of hand skills (MONDO:MONDO:0060659)", "pathway": " (hsa:9568); (R-HSA-1296041); (R-HSA-418594); (R-HSA-420499); (R-HSA-977444); (R-HSA-997272)", "pathway_count": 6, "publication_count": 74, "publication_id_list": "10.1101/2023.09.13.557529;10075644;10087195;10328880;10727622;10773016;10906333;11007482;11208605;11237011;11917125;11976702;12120503;1329206;15194188;15576628;15617512;15951850;16634148;16923326;17185339;18165688;18434541;18452278;18510355;18577758;20022913;20453851;20555319;20655490;21148030;22660477;23121374;23674604;24235081;24305054;2534964;26740508;27071541;2748346;2834384;28856709;29100083;29369404;29557506;29614098;29789417;31154438;32357974;32581365;33058878;33141586;33968037;34171305;34845648;35051231;37762034;7476890;7617140;7620613;7623957;7759551;7908515;7937899;8015379;8406495;8887960;9131252;9144337;9144651;9473604;9844003;9872316;9872744", "class_list": "", "function": "A preliminary genetic association study of GAD1 and GABAB receptor genes in patients with treatment-resistant schizophrenia., [RefSeq, PubMed]; Component of a heterodimeric G protein-coupled receptor for GABA, formed by GABBR1 and GABBR2 (PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054, PubMed:9872316, PubMed:9872744). Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins (PubMed:18165688). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase (PubMed:10075644, PubMed:10773016, PubMed:24305054). Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis (PubMed:10075644, PubMed:10773016, PubMed:10906333, PubMed:9872744). Plays a critical role in the fine-tuning of inhibitory synaptic transmission (PubMed:22660477, PubMed:9872744). Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials (PubMed:10075644, PubMed:22660477, PubMed:9872316, PubMed:9872744). Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; GABBR2 as a Downstream Effector of the Androgen Receptor Induces Cisplatin Resistance in Bladder Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Structural Basis for Activation of the Heterodimeric GABAB Receptor., [RefSeq, PubMed]; Structure of human GABAB receptor in an inactive state. Erratum:[Nature. 2020 Jul;583(7818):E29. doi: 10.1038/s41586-020-2543-y. PMID: 32665714], [RefSeq, PubMed]; The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 11, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "O75974;O75975;Q5VXZ2;Q8WX04;Q9P1R2;Q9UNR1;Q9UNS9", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0046982 protein heterodimerization activity;GO:0004965 G protein-coupled GABA receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0045211 postsynaptic membrane;GO:0043005 neuron projection;GO:1902710 GABA receptor complex", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007194 negative regulation of adenylate cyclase activity;GO:0007214 gamma-aminobutyric acid signaling pathway;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "O75899-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12888-1", "uniprot_id": [ { "id": "TP53B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12888", "type": "external" } ], "mass": 213574.0, "length": 1972, "protein_name": "TP53-binding protein 1", "gene_name": "TP53BP1", "organism": "Human", "refseq_name": "TP53-binding protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001135451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135451", "type": "external" } ], "gene_names_uniprotkb": "TP53BP1", "gene_names_refseq": "53BP1; TDRD30; TP53BP1; p202; p53BP1", "protein_names_uniprotkb": "TP53-binding protein 1; 53BP1; p53-binding protein 1; p53BP1", "protein_names_refseq": "TP53-binding protein 1 isoform 2; TP53-binding protein 1; tumor protein 53-binding protein, 1; tumor suppressor p53-binding protein 1", "tax_id": 9606, "disease": "pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:7158); (R-HSA-3232118); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-69473)", "pathway_count": 6, "publication_count": 358, "publication_id_list": "10.1101/2023.09.13.557529;10550055;10572166;10724175;10757784;10766245;10802669;10859164;10866324;10959836;10973490;11025670;11042216;11080452;11114888;11139606;11237011;11301010;11331310;11376695;11390408;11390642;11493912;11571274;11573085;11604075;11702069;11877378;11893489;11927591;11934988;11955432;12023295;12072434;12077346;12110597;12152085;12186630;12231622;12356736;12364621;12419227;12447382;12447390;12485996;12509254;12545175;12578958;12607003;12607005;12697768;12773400;12791985;12792649;12824158;12832489;12890688;12897153;12947387;14560035;14561766;14576433;15064416;15177042;15189136;15190204;15201865;15247228;15279782;15302935;15451442;15468306;15492236;15494207;15507434;15525939;15574327;15707391;15723659;15987456;16061182;16093244;16094384;16148040;16150728;16153896;16294045;16294047;16327781;16360315;16377563;16408927;16427009;16439204;16439205;16530042;16600297;16651405;16781829;16874298;16885023;16914548;16964243;17081983;17190600;17283066;17287340;17290226;17322306;17470781;17525332;17525340;17553757;17575048;17848578;17928296;17965729;18001824;18001825;18006705;18046455;18077395;18077418;18171670;18212344;18220336;18374648;18397950;18443292;18452278;18491316;18617891;18644861;18669648;18707149;18767875;18805091;18923075;18931659;18971343;18996087;19001859;19007248;19092802;19117993;19176521;19203578;19203579;19234442;19261749;19351884;19357644;19413330;19415658;19419957;19505854;19650074;19651622;19656881;19664994;19664995;19690332;19744555;19782031;19876065;19915695;20016603;20023648;20058876;20068230;20068231;20126263;20154705;20209145;20233725;20347427;20351172;20372852;20547755;20660628;21052091;21098080;21144835;21240188;21263215;21282113;21293379;21325134;21335604;21375726;21406692;21659603;21680038;21680713;21777809;21900752;21965678;22021381;22022399;22024395;22179609;22231403;22234877;22373579;22421153;22508508;22529269;22553214;22589545;22621922;22635276;22661229;22661230;22792074;22908299;22977173;22980979;23186163;23301498;23306437;23333306;23345425;23345434;23417673;23468639;23481700;23505375;23727112;23760478;23874665;24236237;24275569;24326623;24390485;24583858;24667604;24703952;24715725;24782567;24835590;25113031;25114211;25122754;25218447;25418920;25512557;25558984;25576301;25607646;25645385;25659039;25755297;25772364;25818648;25841101;26073453;26154972;26853435;26929215;27153538;27371829;27477698;27494840;27846572;27920218;27935866;28063628;28218747;28241136;28415769;28510447;28514659;28832583;28904123;28930533;29237092;29242379;29351928;29393594;29437277;29508533;29557506;29603287;29632046;29632711;29651020;29786170;30315122;30379171;30410026;30524438;30559443;30685087;31135337;31154438;31217245;31373491;31492838;31527692;31530632;31534152;31619012;31844290;31848261;32119511;32157095;32161166;32224979;32387766;32488085;32502341;32938616;33138032;33141586;33298915;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34561969;34846842;35051231;35132862;35251023;35254053;35580925;36172813;36241641;37217939;37696958;38665916;38821984;39107288;39226322;39302247;39531497;40136647;40307207;40596516;8016121;8422676;8944023;9168116;9259561;9430729;9488723;9512523;9705271;9748285;9826654", "class_list": "", "function": "53BP1 (also known as TRP53BP1), a component of DNA damage foci, changes the dynamic behaviour of chromatin to promote DNA repair, [RefSeq, PubMed]; 53BP1 functions as a DNA damage checkpoint protein Erratum:[Nat Cell Biol. 2003 Jan;5(1):84.], [RefSeq, PubMed]; 53BP1 loss elicits cGAS-STING-dependent antitumor immunity in ovarian and pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; 53BP1 recruitment to DNA repair foci requires the direct recognition of a double strand break-specific histone code. [Review] Review article, [RefSeq, PubMed]; Demonstrated that 53BP1 is a key transducer of the DNA damage checkpoint signal; required for p53 accumulation, G2-M checkpoint arrest, and the intra-S-phase checkpoint in response to ionizing radiation, [RefSeq, PubMed]; Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis (PubMed:12364621, PubMed:17190600, PubMed:21144835, PubMed:22553214, PubMed:23333306, PubMed:27153538, PubMed:28241136, PubMed:31135337, PubMed:37696958). Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1 (PubMed:22553214, PubMed:23333306, PubMed:23727112, PubMed:27153538, PubMed:31135337). In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs sites (PubMed:28241136). Recruited to DSBs sites by recognizing and binding histone H2A monoubiquitinated at 'Lys-15' (H2AK15Ub) and histone H4 dimethylated at 'Lys-20' (H4K20me2), two histone marks that are present at DSBs sites (PubMed:17190600, PubMed:23760478, PubMed:27153538, PubMed:28241136). Required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (PubMed:23345425). Participates in the repair and the orientation of the broken DNA ends during CSR (By similarity). In contrast, it is not required for classic NHEJ and V(D)J recombination (By similarity). Promotes NHEJ of dysfunctional telomeres via interaction with PAXIP1 (PubMed:23727112)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Evolved histone tail regulates 53BP1 recruitment at damaged chromatin. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphorylation of the DNA damage repair factor 53BP1 by ATM kinase controls neurodevelopmental programs in cortical brain organoids. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This protein plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response proteins to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 182, "reported_mutagensis": 69, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "F8VY86;Q2M1Z7;Q4LE46;Q5FWZ3;Q7Z3U4", "ec_number_list": [], "go_molecular_function": "GO:0061649 ubiquitin-modified histone reader activity;GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0042393 histone binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body;GO:0000776 kinetochore", "go_biological_process": "GO:1990166 protein localization to site of double-strand break;GO:0097680 double-strand break repair via classical nonhomologous end joining;GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 37.5, "record_id": "Q12888-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13304-1", "uniprot_id": [ { "id": "GPR17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13304", "type": "external" } ], "mass": 40989.0, "length": 367, "protein_name": "Uracil nucleotide/cysteinyl leukotriene receptor", "gene_name": "GPR17", "organism": "Human", "refseq_name": "uracil nucleotide/cysteinyl leukotriene receptor isoform a", "refseq_ac": [ { "id": "NP_001154887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154887", "type": "external" } ], "gene_names_uniprotkb": "GPR17", "gene_names_refseq": "GPR17", "protein_names_uniprotkb": "Uracil nucleotide/cysteinyl leukotriene receptor; G protein-coupled receptor 17; P2Y-like receptor; R12; UDP/CysLT receptor", "protein_names_refseq": "P2Y-like receptor; R12; UDP/CysLT receptor; uracil nucleotide/cysteinyl leukotriene receptor isoform a; uracil nucleotide/cysteinyl leukotriene receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:2840); (R-HSA-391906); (R-HSA-416476); (R-HSA-417957); (R-HSA-418594)", "pathway_count": 5, "publication_count": 84, "publication_id_list": "10191087;10391245;10462554;10567430;10727532;10753868;10851239;10861009;10934230;11004484;11007482;11015615;11156592;11196645;11237011;11546776;11742120;11753430;12120503;12386137;12458155;15199474;15951850;16182515;16268477;16268778;16339447;16634148;16754659;16774927;16923326;16990797;17166850;18297070;18434541;18466763;18515384;18577758;18936096;1905813;19339661;19552634;23890048;24393016;24414167;2534964;2543269;2548477;26194851;26758983;2748346;27694321;28089137;2834384;2841328;29557506;3086311;31154438;32157095;3304967;33392160;34144038;35016881;35163437;35318648;36791278;7937899;8015379;8159738;8406495;8537336;8558062;8664309;8666290;8670200;8720746;9177352;9223435;9305846;9364473;9405388;9504401;9523551;9770463", "class_list": "", "function": "Dual specificity receptor for uracil nucleotides and cysteinyl leukotrienes (CysLTs). Signals through G(i) and inhibition of adenylyl cyclase. May mediate brain damage by nucleotides and CysLTs following ischemia., [UniProtKB, PubMed]; GPR17 signaling activation by CHBC agonist induced cell death via modulation of MAPK pathway in glioblastoma., [RefSeq, PubMed]; Human GPR17 missense variants identified in metabolic disease patients have distinct downstream signaling profiles., [RefSeq, PubMed]; Insulin-like Growth Factor 1 Promotes Cell Proliferation by Downregulation of G-Protein-Coupled Receptor 17 Expression via PI3K/Akt/FoxO1 Signaling in SK-N-SH Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Structural analysis of human G-protein-coupled receptor 17 ligand binding sites., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K9L0;B2R9X0;Q8N5S7;Q9UDZ6;Q9UE21", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004950 chemokine receptor activity;GO:0033612 receptor serine/threonine kinase binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0048709 oligodendrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q13304-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99928-1", "uniprot_id": [ { "id": "GBRG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99928", "type": "external" } ], "mass": 54289.0, "length": 467, "protein_name": "Gamma-aminobutyric acid receptor subunit gamma-3", "gene_name": "GABRG3", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit gamma-3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001257802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257802", "type": "external" } ], "gene_names_uniprotkb": "GABRG3", "gene_names_refseq": "GABRG3", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit gamma-3; GABA(A) receptor subunit gamma-3; GABAAR subunit gamma-3", "protein_names_refseq": "GABA(A) receptor subunit gamma-3; GABA(G) receptor, gamma 3; GABAAR subunit gamma-3; gamma-aminobutyric acid (GABA) A receptor, gamma 3; gamma-aminobutyric acid receptor subunit gamma-3 isoform 2 precursor; gamma-aminobutyric acid type A receptor gamma3 subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:2567); (R-HSA-1236394); (R-HSA-977443)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "10449790;10542332;10867024;11237011;1315307;1321750;15024690;1664410;17364682;17398006;17545517;18382465;18452278;1849271;18721752;19828786;2465923;26566883;2847710;30418433;34530807;34779508;35051231;35403940;35562522;37019319;7565730;7929212;8264558;8382267;8391122;8617750;8632757;8719414;8719416;9135143;9168115;9275162;9556621", "class_list": "", "function": "An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population. Publication Status: Online-Only, [RefSeq, PubMed]; Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder., [RefSeq, PubMed]; Expanding the clinico-molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies., [RefSeq, PubMed]; GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands., [RefSeq, PubMed]; Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (By similarity). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride across the cell membrane down their electrochemical gradient (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; SNP-PCR genotyping links alterations in the GABAA receptor (GABRG3: rs208129) and RELN (rs73670) genes to autism spectrum disorder among peadiatric Iraqi Arabs., [RefSeq, PubMed]; This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "G3V594;Q9HD46;Q9NYT2", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0004890 GABA-A receptor activity;GO:0022851 GABA-gated chloride ion channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0005254 chloride channel activity;GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0045211 postsynaptic membrane;GO:0098794 postsynapse;GO:0034707 chloride channel complex", "go_biological_process": "GO:0007214 gamma-aminobutyric acid signaling pathway;GO:1902476 chloride transmembrane transport;GO:0009410 response to xenobiotic stimulus;GO:0051932 synaptic transmission, GABAergic;GO:1904862 inhibitory synapse assembly", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q99928-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HDB9-1", "uniprot_id": [ { "id": "GAK5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HDB9", "type": "external" } ], "mass": 73588.0, "length": 667, "protein_name": "Endogenous retrovirus group K member 5 Gag polyprotein", "gene_name": "ERVK-5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ERVK-5; ERVK5", "gene_names_refseq": "", "protein_names_uniprotkb": "Endogenous retrovirus group K member 5 Gag polyprotein; Gag polyprotein; HERV-K(II) Gag protein; HERV-K_3q12.3 provirus ancestral Gag polyprotein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 10, "publication_id_list": "11401426;12060620;12629516;28063628;29393594;29632046;30620550;32265295;36010968;7983737", "class_list": "", "function": "May possess a function in tumorigenesis., [UniProtKB]; Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution., [UniProtKB]; The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005198 structural molecule activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005634 nucleus", "go_biological_process": "GO:0075523 viral translational frameshifting", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9HDB9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P32455-1", "uniprot_id": [ { "id": "GBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P32455", "type": "external" } ], "mass": 67931.0, "length": 592, "protein_name": "Guanylate-binding protein 1", "gene_name": "GBP1", "organism": "Human", "refseq_name": "guanylate-binding protein 1", "refseq_ac": [ { "id": "NP_002044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002044", "type": "external" } ], "gene_names_uniprotkb": "GBP1", "gene_names_refseq": "GBP1; hGBP1", "protein_names_uniprotkb": "Guanylate-binding protein 1; 3.6.1.-; 3.6.5.-; GBP-1; GTP-binding protein 1; Guanine nucleotide-binding protein 1; HuGBP-1; Interferon-induced guanylate-binding protein 1; hGBP1", "protein_names_refseq": "GBP-1; GTP-binding protein 1; guanine nucleotide-binding protein 1; guanylate binding protein 1, interferon-inducible, 67kDa; guanylate-binding protein 1; huGBP-1; interferon-induced guanylate-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:2633); (R-HSA-168276); (R-HSA-877300); (R-HSA-9948001); (R-HSA-9953170); (R-HSA-9956593); (R-HSA-9968551)", "pathway_count": 7, "publication_count": 120, "publication_id_list": "10067896;10205180;10676968;10846107;10970849;10986460;11237011;11687658;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;15937107;16237089;16467876;16511497;16936281;17125875;1715024;17266443;18362138;18591661;18991276;20049711;20130243;20304997;20363976;21151871;22106366;23061660;23516580;24417533;24714562;25119034;26154972;26992070;27846572;27862975;28593173;28645896;29024643;29144452;29177860;29233899;29493099;29557506;30355688;30429286;30692621;31091448;31216343;31268602;31844290;32109412;32157095;32350084;32488085;32502341;32510692;32581219;32938616;32983136;33239784;33303953;33592498;33876762;33936100;33968037;34171305;34185709;34357683;34561969;34671164;34916628;35051231;35318648;35580925;36010968;36284347;36624349;37014865;37558421;37797010;38315728;38622605;38665916;38840385;38860570;39394410;40914422;7510216;7512561;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8313914;8483949;8530158;8550631;8631301;8830800;9111318;9143706;9651582", "class_list": "", "function": "GBP1 promotes cutaneous squamous cell carcinoma proliferation and invasion through activation of STAT3 by SP1., [RefSeq, PubMed]; Guanylate binding protein expression is induced by interferon. Guanylate binding proteins are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP) and are distinguished from the GTP-binding proteins by the presence of 2 binding motifs rather than 3. [provided by RefSeq, Jul 2008]., [RefSeq]; Guanylate-binding protein 1 acts as a pro-viral factor for the life cycle of hepatitis C virus. Publication Status: Online-Only, [RefSeq, PubMed]; Guanylate-binding protein 1 inhibits Hantaan virus infection by restricting virus entry., [RefSeq, PubMed]; Interferon (IFN)-inducible GTPase that plays important roles in innate immunity against a diverse range of bacterial, viral and protozoan pathogens (PubMed:16511497, PubMed:22106366, PubMed:29144452, PubMed:31268602, PubMed:32510692, PubMed:32581219, PubMed:37797010, PubMed:7512561). Hydrolyzes GTP to GMP in two consecutive cleavage reactions: GTP is first hydrolyzed to GDP and then to GMP in a processive manner (PubMed:16511497, PubMed:32510692, PubMed:7512561, PubMed:39394410). Following infection, recruited to the pathogen-containing vacuoles or vacuole-escaped bacteria and promotes both inflammasome assembly and autophagy (PubMed:29144452, PubMed:31268602). Acts as a positive regulator of inflammasome assembly by facilitating the detection of inflammasome ligands from pathogens (PubMed:31268602, PubMed:32510692, PubMed:32581219). Involved in the lysis of pathogen-containing vacuoles, releasing pathogens into the cytosol (By similarity). Following pathogen release in the cytosol, forms a protein coat in a GTPase-dependent manner that encapsulates pathogens and promotes the detection of ligands by pattern recognition receptors (PubMed:32510692, PubMed:32581219). Plays a key role in inflammasome assembly in response to infection by Gram-negative bacteria: following pathogen release in the cytosol, forms a protein coat that encapsulates Gram-negative bacteria and directly binds to lipopolysaccharide (LPS), disrupting the O-antigen barrier and unmasking lipid A that is that detected by the non-canonical inflammasome effector CASP4/CASP11 (PubMed:32510692, PubMed:32581219). Also promotes recruitment of proteins that mediate bacterial cytolysis, leading to release double-stranded DNA (dsDNA) that activates the AIM2 inflammasome (PubMed:31268602). Involved in autophagy by regulating bacteriolytic peptide generation via its interaction with ubiquitin-binding protein SQSTM1, which delivers monoubiquitinated proteins to autolysosomes for the generation of bacteriolytic peptides (By similarity). Confers protection to several pathogens, including the bacterial pathogens L.monocytogenes and M.bovis BCG as well as the protozoan pathogen T.gondii (PubMed:31268602). Exhibits antiviral activity against influenza virus (PubMed:22106366)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Interferon-gamma-induced GBP1 is an inhibitor of human papillomavirus 18. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 33, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DT26;Q5T8M1", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.84", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.84", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "3.4.22.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.36", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.5.1.58", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.58", "type": "external" }, { "id": "2.5.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.59", "type": "external" }, { "id": "3.4.22.57", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.57", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003779 actin binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0032703 negative regulation of interleukin-2 production;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:1903077 negative regulation of protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P32455-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63096-1", "uniprot_id": [ { "id": "GNAI1_HUMAN", "url": "https://www.uniprot.org/uniprot/P63096", "type": "external" } ], "mass": 40361.0, "length": 354, "protein_name": "Guanine nucleotide-binding protein G(i) subunit alpha-1", "gene_name": "GNAI1", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(i) subunit alpha-1 isoform 2", "refseq_ac": [ { "id": "NP_001243343", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243343", "type": "external" } ], "gene_names_uniprotkb": "GNAI1", "gene_names_refseq": "GNAI1; Gi; HG1B; NEDHISB", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(i) subunit alpha-1; 3.6.5.-; Adenylate cyclase-inhibiting G alpha protein", "protein_names_refseq": "Gi1 protein alpha subunit; adenylate cyclase-inhibiting G alpha protein; guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1; guanine nucleotide-binding protein G(i) subunit alpha-1 isoform 2; guanine nucleotide-binding protein G(i) subunit alpha-1; heterotrimeric guanine nucleotide-binding protein 1B", "tax_id": 9606, "disease": "McCune Albright syndrome (Disease Ontology:DOID:1858); neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (MONDO:MONDO:0859243)", "pathway": " (hsa:2770); (R-HSA-170670); (R-HSA-392170); (R-HSA-400042); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-422356); (R-HSA-9009391); (R-HSA-9634597); (R-HSA-9660821)", "pathway_count": 11, "publication_count": 352, "publication_id_list": "10.1101/2023.09.13.557529;10194514;10206966;10319328;10342826;10424882;10427092;10449730;10496952;10526167;10714768;10749889;10773014;10806474;10866047;10868950;10948191;10954748;11007482;11029009;11029403;11043579;11044445;11078440;11078469;11185956;11196645;11230166;11237011;11264248;11313909;11369763;11577798;11689445;11716850;11773440;11773442;11773443;11780755;11815450;11815460;11815462;11815463;11825873;11873862;11976690;11981029;12036966;12048194;12058044;12106601;12120503;12135370;12180353;12196472;12388769;12403834;12421825;12431978;12475777;12511868;12560222;12588983;12682286;12684222;12764427;12808053;12860470;12881510;12887316;1309948;1325798;13459201;1347957;13549488;1378832;14514350;14573771;14671004;14675202;14764897;15000528;15033483;15044318;15090535;1517224;15231873;15242332;15245432;15305887;15314172;15467163;15496458;15504896;15539556;15569929;15572341;15585596;15657067;15678092;15705661;15705806;15765929;15769620;15951850;15956360;16004878;16239258;16274718;16313925;16332676;16352729;16371464;16373322;16443778;1645720;16513675;16556766;1658606;16634148;16636149;16645038;16687412;16714477;16835357;16868246;16923326;17021801;17037979;17095603;17168849;17230639;17259518;17264214;17379646;17380317;17424910;17525128;17535799;17603074;17635935;17660294;17900700;17916740;17919183;17921256;18044684;18162464;18206197;18346985;18434541;1849000;18566127;18577758;18596924;18657504;19105585;19138696;19211784;19258039;19342448;1939224;19587354;19741198;19876791;19879889;19929708;19931550;20086079;20213681;20381629;20439495;20650261;20861220;21036126;21115486;2163110;21680538;21844907;21851428;22028449;22031296;22266855;22327364;22383884;22446104;22495674;22952234;23992284;24039841;24141704;2417744;24273487;24530924;24687066;2491850;24962572;25255805;2534964;2553411;2553705;25576301;25587652;25645385;26126266;26154972;26190834;26417854;26517901;26766442;26987903;26992070;27288742;27392633;27452731;2748346;27600516;27655845;28218747;28228285;2834384;28450397;28502923;28539435;28595943;28649982;2871555;28832583;28834231;28904123;29108130;29242379;29331515;29393594;29443750;29557506;29602314;29632711;29738483;29786170;30315122;30410026;30429286;30779550;30833991;31067468;31073061;3110783;3127824;31279028;31399091;31848261;31983287;32126208;32157095;32193322;32226383;32497535;32502341;32540603;32618402;32715661;32938616;33049737;33141586;33473207;33592498;33762731;33936100;33981976;34087483;34171305;34239069;34357683;34685729;34819662;35051231;35061538;3517644;35217703;35318648;35501348;35610220;36064945;37935376;37935377;37963465;38049415;38552625;38600377;38776963;38918398;39043181;3923453;39990658;40080544;6019353;6085243;6424440;6435940;7526779;7559455;7568118;7589840;7593639;7595566;7641683;7651538;7750475;7929812;7937899;8007951;8015379;8027028;8099279;8119955;8277227;8327893;8340388;8406495;8457197;8514797;8522976;8527267;8554519;8598224;8662784;8672451;8675920;8702633;8774883;8778232;8782602;8876252;8987985;8997178;9173876;9263355;9350615;9395517;9417641;9565625;9616126;9651336;9707174;9726229;9739505;9751501;9760042;9865521;9914469;9920805", "class_list": "", "function": "Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]., [RefSeq]; Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:18434541, PubMed:33762731, PubMed:34239069, PubMed:35610220, PubMed:37935376, PubMed:37935377, PubMed:37963465, PubMed:38552625, PubMed:8774883, PubMed:38918398, PubMed:40080544). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:18434541, PubMed:8774883). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:18434541, PubMed:8774883). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal (PubMed:18434541, PubMed:8774883). Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:18434541, PubMed:8774883). Signaling is mediated via effector proteins, such as adenylate cyclase: inhibits adenylate cyclase activity of ADCY1, ADCY5 and ADCY6, leading to decreased intracellular cAMP levels (PubMed:8119955). The inactive GDP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. Required for normal cytokinesis during mitosis (PubMed:17635935). Required for cortical dynein-dynactin complex recruitment during metaphase (PubMed:22327364)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Molecular mechanism of the endothelin receptor type B interactions with Gs, Gi, and Gq., [RefSeq, PubMed]; Overexpressed Galphai1 exerts pro-tumorigenic activity in nasopharyngeal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8KA88;B4E2V1;C9J3A4;P04898;P11015;P31871;Q5U074;Q8TAN5;Q9UGA4", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "4.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.1", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.7.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.85", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0031821 G protein-coupled serotonin receptor binding;GO:0000287 magnesium ion binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0001664 G protein-coupled receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:1903998 regulation of eating behavior;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway", "synthesized_glycan_count": 0, "hit_score": 35.7, "record_id": "P63096-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23352-1", "uniprot_id": [ { "id": "KALM_HUMAN", "url": "https://www.uniprot.org/uniprot/P23352", "type": "external" } ], "mass": 76112.0, "length": 680, "protein_name": "Anosmin-1", "gene_name": "ANOS1", "organism": "Human", "refseq_name": "anosmin-1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000207", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000207", "type": "external" } ], "gene_names_uniprotkb": "ANOS1; ADMLX; KAL1; KALIG1; KAL", "gene_names_refseq": "ADMLX; ANOS1; HH1; HHA; KAL1; KALIG-1; KAL; KMS; WFDC19", "protein_names_uniprotkb": "Anosmin-1; Adhesion molecule-like X-linked; Kallmann syndrome protein", "protein_names_refseq": "Kallmann syndrome interval gene 1; Kallmann syndrome-1 sequence (anosmin-1); WAP four-disulfide core domain 19; adhesion molecule-like X-linked; anosmin-1 isoform 1 precursor; kallmann syndrome protein", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 1 with or without anosmia (Disease Ontology:DOID:0090094); Kallmann syndrome (Disease Ontology:DOID:3614)", "pathway": " (hsa:3730); (R-HSA-190373); (R-HSA-5654726)", "pathway_count": 3, "publication_count": 60, "publication_id_list": "11294897;11297579;11463336;11997436;12007408;12419216;12627230;12815057;12974390;1303284;1379698;15001591;15324302;15471890;15548653;15605412;15863029;15949815;16507368;16597617;16764984;17054399;17213338;17223984;18452557;18985070;1913827;1922361;19652666;19696444;20117945;20530987;21168128;22927827;23090970;23643382;24190977;24715725;25077900;25502872;25892735;29557506;31669640;33968037;34062169;35051231;35561310;35580925;36039580;36859276;37074911;7590336;8504298;8622701;8832397;8842728;8989261;9139660;9589672;9730987", "class_list": "", "function": "ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism.', trans 'ANOS1., [RefSeq, PubMed]; Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling. Review article, [RefSeq, PubMed]; Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory epithelial cells., [UniProtKB, PubMed]; Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008]., [RefSeq]; The deleterious effect of this mutation on the transcriptional level of ANOS1 gene., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RPF8", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0008201 heparin binding;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006935 chemotaxis;GO:0007155 cell adhesion;GO:0030182 neuron differentiation;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P23352-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14596-1", "uniprot_id": [ { "id": "NBR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14596", "type": "external" } ], "mass": 107413.0, "length": 966, "protein_name": "Next to BRCA1 gene 1 protein", "gene_name": "NBR1", "organism": "Human", "refseq_name": "next to BRCA1 gene 1 protein isoform b", "refseq_ac": [ { "id": "NP_001278500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278500", "type": "external" } ], "gene_names_uniprotkb": "NBR1; 1A13B; KIAA0049; M17S2; MIG19", "gene_names_refseq": "1A1-3B; IAI3B; M17S2; MIG19; NBR1", "protein_names_uniprotkb": "Next to BRCA1 gene 1 protein; Cell migration-inducing gene 19 protein; Membrane component chromosome 17 surface marker 2; Neighbor of BRCA1 gene 1 protein; Protein 1A1-3B", "protein_names_refseq": "B-box protein; cell migration-inducing gene 19 protein; membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125); migration-inducing protein 19; neighbor of BRCA1 gene 1; next to BRCA1 gene 1 protein isoform b; next to BRCA1 gene 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:4077); (R-HSA-9664873)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "11179671;11237011;12813044;15802564;16376336;17580304;19250911;19398892;19427866;20068231;20966255;22299025;23186163;23239026;23481700;24331465;24692539;24715725;24879152;25440060;25502872;25576301;25645385;25880248;26154972;26344566;26375851;26992070;27068951;27600516;27846572;27893789;28218747;28228285;28467828;28649982;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632711;30315122;30524438;30626607;30700497;30779550;31131315;31154438;31217245;31222486;31356149;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33226137;33298915;33577621;33592498;33691108;33912179;33936100;33968037;33981976;34078123;34087483;34211107;34357683;34405274;34433824;34471133;34488032;34509645;34561969;34932366;35051231;35154160;35251023;35494241;35580925;35914352;36010968;36215666;36241641;36284347;38169523;38678786;7581362;8069304;9180155", "class_list": "", "function": "Germline mutation in the NBR1 gene involved in autophagy detected in a family with renal tumors., [RefSeq, PubMed]; NBR1 mediates autophagic degradation of IRF3 to negatively regulate type I interferon production., [RefSeq, PubMed]; NBR1-mediated autophagic degradation of caspase 8 protects vascular endothelial cells against arsenite-induced apoptotic cell death., [RefSeq, PubMed]; Results suggest that NBR1 is the specific autophagy receptor for pexophagy., [RefSeq, PubMed]; The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubiquitylated autophagic substrates. This gene is located on a region of chromosome 17q21.1 that is in close proximity to the BRCA1 tumor suppressor gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]., [RefSeq]; Ubiquitin-binding autophagy adapter that participates in different processes including host defense or intracellular homeostasis (PubMed:24692539, PubMed:33577621). Possesses a double function during the selective autophagy by acting as a shuttle bringing ubiquitinated proteins to autophagosomes and also by participating in the formation of protein aggregates (PubMed:24879152, PubMed:34471133, PubMed:38169523). Plays a role in the regulation of the innate immune response by modulating type I interferon production and targeting ubiquitinated IRF3 for autophagic degradation (PubMed:35914352). In response to oxidative stress, promotes an increase in SQSTM1 levels, phosphorylation, and body formation by preventing its autophagic degradation (By similarity). In turn, activates the KEAP1-NRF2/NFE2L2 antioxidant pathway (By similarity). Also plays non-autophagy role by mediating the shuttle of IL-12 to late endosome for subsequent secretion (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 8, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q13173;Q15026;Q5J7Q8;Q96GB6;Q9NRF7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0051019 mitogen-activated protein kinase binding;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005758 mitochondrial intermembrane space;GO:0005778 peroxisomal membrane;GO:0005829 cytosol;GO:0016020 membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0016236 macroautophagy;GO:0030500 regulation of bone mineralization;GO:0045668 negative regulation of osteoblast differentiation;GO:0032872 regulation of stress-activated MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q14596-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GU1-1", "uniprot_id": [ { "id": "PAGE5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GU1", "type": "external" } ], "mass": 14046.0, "length": 130, "protein_name": "P antigen family member 5", "gene_name": "PAGE5", "organism": "Human", "refseq_name": "P antigen family member 5 isoform 2", "refseq_ac": [ { "id": "NP_001013453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013453", "type": "external" } ], "gene_names_uniprotkb": "PAGE5; GAGEE1", "gene_names_refseq": "CT16.1; CT16.2; CT16; GAGEE1; PAGE-5; PAGE5", "protein_names_uniprotkb": "P antigen family member 5; CT16.1; Cancer/testis antigen 16.1; G antigen family E member 1; PAGE-5; Prostate-associated gene 5 protein", "protein_names_refseq": "P antigen family member 5 isoform 2; P antigen family member 5; P antigen family, member 5 (prostate associated); cancer/testis antigen 16.1; cancer/testis antigen family 16, member 1; cancer/testis antigen family 16, member 2; g antigen family E member 1; prostate-associated gene 5 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:90737)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;11992404;23028975;23186163;27600516;31222486;31611695;32157095;32350084;32488085;32938616;33968037;35251023;37938771;39394480", "class_list": "", "function": "Results indicate that CT16 promotes the survival of melanoma cells and is therefore a potential target for future drug development., [RefSeq, PubMed]; This gene is a member of family of proteins that are expressed in a variety of tumors and in some fetal and reproductive tissues. The encoded protein may protect cells from programmed cell death. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2NL97;Q5JUL0;Q8WWL9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q96GU1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57052-1", "uniprot_id": [ { "id": "RBM11_HUMAN", "url": "https://www.uniprot.org/uniprot/P57052", "type": "external" } ], "mass": 32179.0, "length": 281, "protein_name": "Splicing regulator RBM11", "gene_name": "RBM11", "organism": "Human", "refseq_name": "splicing regulator RBM11 isoform 2", "refseq_ac": [ { "id": "NP_001307531", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307531", "type": "external" } ], "gene_names_uniprotkb": "RBM11", "gene_names_refseq": "RBM11", "protein_names_uniprotkb": "Splicing regulator RBM11; RNA-binding motif protein 11", "protein_names_refseq": "putative RNA-binding protein 11; splicing regulator RBM11 isoform 2; splicing regulator RBM11", "tax_id": 9606, "disease": "", "pathway": " (hsa:54033)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "12036298;12909339;21984414;33968037;34434291;35051231", "class_list": "", "function": "RNA-Binding Motif Protein 11 (RBM11) Serves as a Prognostic Biomarker and Promotes Ovarian Cancer Progression. Publication Status: Online-Only, [RefSeq, PubMed]; Tissue-specific splicing factor with potential implication in the regulation of alternative splicing during neuron and germ cell differentiation. Antagonizes SRSF1-mediated BCL-X splicing. May affect the choice of alternative 5' splice sites by binding to specific sequences in exons and antagonizing the SR protein SRSF1., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6YNC2;Q8NBA1;Q8NFF6", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0003727 single-stranded RNA binding;GO:0008266 poly(U) RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006397 mRNA processing;GO:0030154 cell differentiation;GO:0008380 RNA splicing;GO:0034599 cellular response to oxidative stress;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P57052-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P34896-1", "uniprot_id": [ { "id": "GLYC_HUMAN", "url": "https://www.uniprot.org/uniprot/P34896", "type": "external" } ], "mass": 53083.0, "length": 483, "protein_name": "Serine hydroxymethyltransferase, cytosolic", "gene_name": "SHMT1", "organism": "Human", "refseq_name": "serine hydroxymethyltransferase, cytosolic isoform 3", "refseq_ac": [ { "id": "NP_001268715", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268715", "type": "external" } ], "gene_names_uniprotkb": "SHMT1", "gene_names_refseq": "CSHMT; SHMT1; SHMT; hcSHMT", "protein_names_uniprotkb": "Serine hydroxymethyltransferase, cytosolic; 2.1.2.1; Glycine hydroxymethyltransferase; L-allo-threonine/L-threonine aldolase SHMT1; SHMT; Serine methylase; cSHMT; hcSHMT", "protein_names_refseq": "L-allo-threonine/L-threonine aldolase SHMT1; cytoplasmic serine hydroxymethyltransferase; glycine hydroxymethyltransferase; serine hydroxymethyltransferase 1 (soluble); serine hydroxymethyltransferase, cytosolic isoform 3; serine hydroxymethyltransferase, cytosolic; serine methylase", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); ovarian cancer (Disease Ontology:DOID:2394); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:6470); (R-HSA-196757); (R-HSA-71262)", "pathway_count": 3, "publication_count": 130, "publication_id_list": "10091649;10347183;10702312;10978331;11237011;11431483;11802770;12937168;15754339;16171773;17129779;17308042;17446168;17962486;18991276;19424049;19608861;19948730;20068231;20498374;20599753;21163947;21238436;21876188;22194612;22235121;2248959;23409799;23481700;23934049;24075985;24698160;24714562;24733394;25576301;25619277;25645385;25880248;25892735;2605182;26375851;26728094;26992070;27600516;27846572;27862975;28228285;28832583;28834231;28904123;29242379;2925663;29331515;29493099;29508533;29557506;29769354;29786170;29789417;30035852;30315122;30429286;30484775;3053686;30779550;30833945;30914451;3110140;31154438;31222486;31844290;31848261;32157095;32350084;32357974;32387766;32423175;32488085;32502341;32658475;32897882;32938616;32983136;33053560;33123756;33141586;33163492;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36417280;37938771;3801490;38615009;3871768;38996576;4066659;6323448;6497835;6795186;7726158;7852378;8218174;8505317;8522195;8662720;9056951;9753662;9753690", "class_list": "", "function": "Pyridoxal phosphate (PLP)-dependent enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate (THF) to glycine and 5,10-methylene THF, serving as a critical component of the folate cycle and facilitating one-carbon biosynthetic reactions essential for methionine, purine, and pyrimidine synthesis (PubMed:24698160, PubMed:30035852, PubMed:38996576). While its central activity involves serine cleavage, the detailed catalytic mechanisms remain under study, including both retro-aldol cleavage of the PLP-serine C(alpha)-C(beta) bond followed by formaldehyde condensation with THF, and alternative nucleophilic displacement mechanisms of the C(alpha) atom of PLP-serine aldimine involving THF's N5 atom (By similarity). Also catalyzes the cleavage of various 3-hydroxy amino acids, such as L-allo-threonine, L-threonine and 3-phenylserine, forming glycine and the corresponding aldehyde through a retro-aldol process; additionally, it catalyzes the formation of 5-formyltetrahydrofolate from 5,10-methenyltetrahydrofolate (PubMed:38615009). Also functions as a hydroxytrimethyllysine aldolase (HTMLA) catalyzing the second step of the carnitine biosynthesis pathway and exhibits substrate preference with the erythro (S,S) configuration, and more efficiency with L-allo-threonine (PubMed:38615009). In the nucleus, first functions as a lamin-binding scaffold protein that is essential for assembling the de novo thymidylate synthesis complex by co-localizing DHFR and TYMS with the nuclear lamina and anchoring the complex to DNA replication sites (PubMed:22235121). Subsequently, provides one-carbon substrates, specifically (6R)-5,10-methylene-5,6,7,8-tetrahydrofolate, in situ for de novo dTMP synthesis to sustain DNA replication and repair during cell proliferation (PubMed:30035852). Importantly, possesses RNA-binding capability, forming complexes that selectively regulate SHMT2 mRNA translation and dynamically modulate cytosolic and mitochondrial serine and glycine concentrations, thus influencing cellular metabolic status (PubMed:38996576)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Serine hydroxymethyltransferase 1 promotes low-grade glioma progression by activating mTORC1 signaling., [RefSeq, PubMed]; Structure-based mechanism of riboregulation of the metabolic enzyme SHMT1., [RefSeq, PubMed]; This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one-carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. A pseudogene of this gene is located on the short arm of chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DPM9;D3DXD0;Q96HY0;Q9UMD1;Q9UMD2", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.2.1", "type": "external" } ], "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0030170 pyridoxal phosphate binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0005521 lamin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006231 dTMP biosynthetic process;GO:0051289 protein homotetramerization;GO:0006260 DNA replication;GO:0045329 carnitine biosynthetic process;GO:0017148 negative regulation of translation", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "P34896-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96M96-1", "uniprot_id": [ { "id": "FGD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96M96", "type": "external" } ], "mass": 86626.0, "length": 766, "protein_name": "FYVE, RhoGEF and PH domain-containing protein 4", "gene_name": "FGD4", "organism": "Human", "refseq_name": "FYVE, RhoGEF and PH domain-containing protein 4 isoform 6", "refseq_ac": [ { "id": "NP_001317302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317302", "type": "external" } ], "gene_names_uniprotkb": "FGD4; FRABP; ZFYVE6", "gene_names_refseq": "CMT4H; FGD4; FRABP; ZFYVE6", "protein_names_uniprotkb": "FYVE, RhoGEF and PH domain-containing protein 4; Actin filament-binding protein frabin; FGD1-related F-actin-binding protein; Zinc finger FYVE domain-containing protein 6", "protein_names_refseq": "FGD1 family, member 4; FGD1-related F-actin-binding protein; FYVE, RhoGEF and PH domain-containing protein 4 isoform 6; actin-filament binding protein frabin; zinc finger FYVE domain-containing protein 6", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 4H (Disease Ontology:DOID:0110192); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); X-linked Aarskog syndrome (Disease Ontology:DOID:6683)", "pathway": " (hsa:121512); (R-HSA-193648); (R-HSA-416482); (R-HSA-9013148)", "pathway_count": 4, "publication_count": 245, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;11007481;11058585;11085924;11149925;11237011;11283606;11294240;11306516;11313914;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11742120;11756498;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12195014;12221096;12351724;12432077;12433842;12464619;12515866;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;14673001;15023524;15064355;15107133;15133042;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15470142;15485661;15601624;15611138;15699075;15728722;15749160;15850391;15897194;15951850;16112081;16116428;16184169;16212495;16217026;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16923326;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17564959;17564972;17599059;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18218625;18363964;18374420;18426980;18577758;18653540;18786931;18835169;18838382;18929667;19212140;19605563;19934221;20068231;20679435;21148482;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22096251;22298643;22461490;22571869;22608513;22661716;22970203;23200924;23255595;23406282;23434736;23572525;23718289;24086303;24259668;24275569;24335996;24352656;24584464;24933155;24996924;25024229;25211221;25414122;25576301;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26887924;26992070;27072905;27096001;27145964;27216196;27481945;27555588;27798618;27862975;28028151;28196833;28825699;28834231;28860633;29557506;29769354;29786170;30007591;30061681;30429286;30853411;31852984;31871319;32157095;32203420;32633323;32772928;32983136;33709789;33912179;34932366;35051231;35580925;36284347;7479768;7512369;7673236;7721814;7753201;7937899;8021274;8537347;8617235;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8994827;9013646;9113980;9268338;9305890;9308960;9405671;9438849;9490638;9497316;9520479;9659915;9670022;9796816;9829970;9843499;9846874", "class_list": "", "function": "Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity)., [UniProtKB, PubMed]; Circular RNA circFGD4 suppresses gastric cancer progression via modulating miR-532-3p/APC/beta-catenin signalling pathway., [RefSeq, PubMed]; Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease., [RefSeq, PubMed]; MiR-23a induced the activation of CDC42/PAK1 pathway and cell cycle arrest in human cov434 cells by targeting FGD4. Publication Status: Online-Only, [RefSeq, PubMed]; Polymorphism of FGD4 and myelosuppression in patients with esophageal squamous cell carcinoma., [RefSeq, PubMed]; This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6ULS2;Q8TCP6", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0030027 lamellipodium", "go_biological_process": "GO:0043087 regulation of GTPase activity;GO:0046847 filopodium assembly;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030036 actin cytoskeleton organization;GO:0007010 cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 24.6, "record_id": "Q96M96-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4F1-1", "uniprot_id": [ { "id": "FARP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4F1", "type": "external" } ], "mass": 118633.0, "length": 1045, "protein_name": "FERM, ARHGEF and pleckstrin domain-containing protein 1", "gene_name": "FARP1", "organism": "Human", "refseq_name": "FERM, ARHGEF and pleckstrin domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001001715", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001715", "type": "external" } ], "gene_names_uniprotkb": "FARP1; CDEP; PLEKHC2", "gene_names_refseq": "CDEP; FARP1-IT1; FARP1; GLCC1; PLEKHC2; PPP1R75", "protein_names_uniprotkb": "FERM, ARHGEF and pleckstrin domain-containing protein 1; Chondrocyte-derived ezrin-like protein; FERM, RhoGEF and pleckstrin domain-containing protein 1; PH domain-containing family C member 2; Pleckstrin homology domain-containing family C member 2", "protein_names_refseq": "FERM, ARHGEF and pleckstrin domain-containing protein 1 isoform 2; FERM, ARHGEF and pleckstrin domain-containing protein 1; FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived); FERM, RhoGEF and pleckstrin domain-containing protein 1; PH domain-containing family C member 2; chondrocyte-derived ezrin-like protein; glycolysis-associated lncRNA of colorectal cancer; pleckstrin homology domain-containing family C member 2; protein phosphatase 1, regulatory subunit 75", "tax_id": 9606, "disease": "", "pathway": " (hsa:10160); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9035034)", "pathway_count": 5, "publication_count": 371, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11058585;11085924;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221077;12221096;12351724;12432077;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15866170;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16959974;16968698;17064668;17077126;17081983;17145773;17196961;17214551;17244649;17322306;17562871;17583407;17599059;17702745;17765681;17804252;17924679;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18212344;18218625;18220336;18249095;18318008;18347018;18363964;18396277;18426980;18578522;18653540;18669648;18767875;18786931;18829452;18835169;18838382;18929667;19269969;19413330;19415658;19494238;19605563;19635168;19651622;19664994;19664995;19673492;19713215;19934221;20030946;20068231;20101212;20166139;20233848;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21119010;21148482;21351730;21406692;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22911862;22970203;22992742;23096567;23186163;23200924;23209303;23255595;23288169;23375260;23406282;23434736;23481700;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24275569;24335996;24352656;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25576301;25668492;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26598554;26887924;26911374;27096001;27117132;27145964;27216196;27278019;27481945;27555588;27566826;27713499;27798618;27806292;27920218;27986909;28028151;28063628;28112683;28114311;28196833;28218747;28584191;28825699;28832583;28860633;28904123;29089502;29146911;29242379;29358323;29382922;29393594;29437277;29508533;29557506;29632046;29769354;29786170;30061681;30429286;30853411;31021836;31105010;31154438;31844290;31871319;32157095;32161166;32203420;32488085;32502341;32938616;32983136;33298915;33592498;33717175;33936100;33968037;34731623;35045883;35051231;35494241;35580925;36010968;36215666;36284347;39395807;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9268338;9305890;9405671;9418861;9425278;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "CircFARP1 enables cancer-associated fibroblasts to promote gemcitabine resistance in pancreatic cancer via the LIF/STAT3 axis. Publication Status: Online-Only, [RefSeq, PubMed]; FARP1 facilitates malignant melanoma cell proliferation and migration by modulating the MAPK signaling pathway., [RefSeq, PubMed]; FARP1, ARHGEF39, and TIAM2 are essential receptor tyrosine kinase effectors for Rac1-dependent cell motility in human lung adenocarcinoma., [RefSeq, PubMed]; Functions as a guanine nucleotide exchange factor for RAC1. May play a role in semaphorin signaling. Plays a role in the assembly and disassembly of dendritic filopodia, the formation of dendritic spines, regulation of dendrite length and ultimately the formation of synapses (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]., [RefSeq]; We have reported here for the first time a reduced activity of both Rac1 and Cdc42 in human pheochromocytoma resection as well as tumor-associated expression changes of FARP1, ARHGEF1, and ARHGAP36, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 27, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5JVI9;Q6IQ29", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding;GO:0008092 cytoskeletal protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098890 extrinsic component of postsynaptic membrane;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0030425 dendrite", "go_biological_process": "GO:0098942 retrograde trans-synaptic signaling by trans-synaptic protein complex;GO:0007416 synapse assembly;GO:0016601 Rac protein signal transduction;GO:0048813 dendrite morphogenesis;GO:0098974 postsynaptic actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 37.4, "record_id": "Q9Y4F1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96C23-1", "uniprot_id": [ { "id": "GALM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96C23", "type": "external" } ], "mass": 37766.0, "length": 342, "protein_name": "Galactose mutarotase", "gene_name": "GALM", "organism": "Human", "refseq_name": "galactose mutarotase", "refseq_ac": [ { "id": "NP_620156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620156", "type": "external" } ], "gene_names_uniprotkb": "GALM; BLOCK25", "gene_names_refseq": "BLOCK25; GALAC4; GALM; GLAT; HEL-S-63p; IBD1", "protein_names_uniprotkb": "Galactose mutarotase; 5.1.3.3; Aldose 1-epimerase", "protein_names_refseq": "aldose 1-epimerase; aldose mutarotase; epididymis secretory sperm binding protein Li 63p; galactomutarotase; galactose enzyme activator; galactose mutarotase", "tax_id": 9606, "disease": "galactosemia 4 (Disease Ontology:DOID:0060969)", "pathway": " (hsa:130589); (R-HSA-70370); (R-HSA-9931929)", "pathway_count": 3, "publication_count": 25, "publication_id_list": "10801319;11237011;12753898;15026423;15175331;1897530;2011574;21339755;23186163;29393594;29557506;30451973;30833945;31848261;32157095;32350084;32938616;33043033;34171305;35051231;35251023;35580925;38665916;7542884;7851421", "class_list": "", "function": "Identification and characterisation of human aldose 1-epimerase. GeneRIF: Gene encodes a functional aldose 1-epimerase (mutarotase). The enzyme exhibits (approx. four-fold) preference for galactose over glucose. Mutation E307A results in no detactable activity., [RefSeq, PubMed]; Mutarotase that catalyzes the interconversion of beta-D-galactose and alpha-D-galactose during galactose metabolism (PubMed:12753898). Beta-D-galactose is metabolized in the liver into glucose 1-phosphate, the primary metabolic fuel, by the action of four enzymes that constitute the Leloir pathway: GALM, GALK1 (galactokinase), GALT (galactose-1-phosphate uridylyltransferase) and GALE (UDP-galactose-4'-epimerase) (PubMed:30451973). Involved in the maintenance of the equilibrium between the beta- and alpha-anomers of galactose, therefore ensuring a sufficient supply of the alpha-anomer for GALK1 (PubMed:12753898). Also active on D-glucose although shows a preference for galactose over glucose (PubMed:12753898)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The enzyme is a monomer and has a similar structure to the Lactococcus lactis mutarotase., [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]., [RefSeq]; This study demonistrated that polymorphism in galactose mutarotase (GALM) is associated with serotonin transporter binding potential in the human thalamus., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53RY1;Q8NIA2;V9HWA8", "ec_number_list": [ { "id": "5.1.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.3", "type": "external" } ], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0004034 aldose 1-epimerase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006006 glucose metabolic process;GO:0033499 galactose catabolic process via UDP-galactose, Leloir pathway;GO:0006012 galactose metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q96C23-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14119-1", "uniprot_id": [ { "id": "VEZF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14119", "type": "external" } ], "mass": 56931.0, "length": 521, "protein_name": "Vascular endothelial zinc finger 1", "gene_name": "VEZF1", "organism": "Human", "refseq_name": "vascular endothelial zinc finger 1 isoform 1", "refseq_ac": [ { "id": "NP_009077", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009077", "type": "external" } ], "gene_names_uniprotkb": "VEZF1; DB1; ZNF161", "gene_names_refseq": "CMD1OO; DB1; VEZF1; ZNF161", "protein_names_uniprotkb": "Vascular endothelial zinc finger 1; Putative transcription factor DB1; Zinc finger protein 161", "protein_names_refseq": "putative transcription factor DB1; vascular endothelial zinc finger 1 isoform 1; zinc finger protein 161", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); cardiomyopathy, dilated, 100 (MONDO:MONDO:0859381)", "pathway": " (hsa:7716)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "11237011;19608861;19651622;20068231;20305658;21740066;22308494;23481700;25576301;27655845;28510447;28657654;28832583;28904123;29237092;29242379;29351928;29393594;29557506;29632711;30059200;30397120;31217245;31492838;31637018;31848261;32157095;32161166;32387766;32488085;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34405274;34509645;34846842;34931806;34973391;35051231;35132862;35254053;35289036;35705054;36010968;36117164;36241641;36241701;36657711;37340703;37541260;38253038;38665916;39302247;39479456;39531497;39534244;40136647;40307207;40596516;41350704;8035792", "class_list": "", "function": "Find examples of genes in which Vezf1 binding sites are located near cassette exons, and in which loss of Vezf1 leads to a change in the relative abundance of alternatively spliced messages, [RefSeq, PubMed]; Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Possible transcription factor. Specifically binds to the CT/GC-rich region of the interleukin-3 promoter and mediates tax transactivation of IL-3., [UniProtKB, PubMed, PubMed]; SPOP downregulation promotes bladder cancer progression based on cancer cell-macrophage crosstalk via STAT3/CCL2/IL-6 axis and is regulated by VEZF1. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM29 regulates the SETBP1/SET/PP2A axis via transcription factor VEZF1 to promote progression of ovarian cancer., [RefSeq, PubMed]; Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein (Koyano-Nakagawa et al., 1994 [PubMed 8035792]). See MIM 603971 for general information on zinc finger proteins.[supplied by OMIM, Sep 2008]., [RefSeq]; VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy., [RefSeq, PubMed]; VEZF1, destabilized by STUB1, affects cellular growth and metastasis of hepatocellular carcinoma by transcriptionally regulating PAQR4., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 31, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 31, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 31, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 31, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006968 cellular defense response;GO:0045603 positive regulation of endothelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q14119-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q17RS7-1", "uniprot_id": [ { "id": "GEN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q17RS7", "type": "external" } ], "mass": 102884.0, "length": 908, "protein_name": "Flap endonuclease GEN homolog 1", "gene_name": "GEN1", "organism": "Human", "refseq_name": "flap endonuclease GEN homolog 1", "refseq_ac": [ { "id": "NP_001123481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123481", "type": "external" } ], "gene_names_uniprotkb": "GEN1", "gene_names_refseq": "GEN1; Gen", "protein_names_uniprotkb": "Flap endonuclease GEN homolog 1; 3.1.-.-", "protein_names_refseq": "GEN1 Holliday junction 5' flap endonuclease; Gen endonuclease homolog 1; Holliday junction resolvase; flap endonuclease GEN homolog 1; replication fork endonuclease; structure-selective endonuclease GEN1", "tax_id": 9606, "disease": "", "pathway": " (hsa:348654); (R-HSA-5693568)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "11237011;12686547;12721304;14527420;16959974;17289582;19020614;19596236;20040574;20965415;21248752;22645308;23166748;23509288;23754376;24076221;24080495;24371268;24509834;24714562;24715725;24831703;25209024;26154972;26578604;26682650;26992070;27846572;27920218;28049850;28218747;28228285;28832583;28904123;29242379;29493099;29557506;29608566;29769354;29786170;29789417;30315122;30379171;30484775;30524438;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33691108;33912179;33936100;33981976;34087483;34171305;34211107;34357683;34509645;34932366;35051231;35254053;35318648;35580925;36215666;36241641;37840312;37938771;38654324;39531497", "class_list": "", "function": "Ectopic expression of GEN1 in fission yeast mus81Delta strains results in Holliday junction resolution and crossover formation during meiosis., [RefSeq, PubMed]; Endonuclease which resolves Holliday junctions (HJs) by the introduction of symmetrically related cuts across the junction point, to produce nicked duplex products in which the nicks can be readily ligated. Four-way DNA intermediates, also known as Holliday junctions, are formed during homologous recombination and DNA repair, and their resolution is necessary for proper chromosome segregation (PubMed:19020614, PubMed:26682650). Cleaves HJs by a nick and counter-nick mechanism involving dual coordinated incisions that lead to the formation of ligatable nicked duplex products. Cleavage of the first strand is rate limiting, while second strand cleavage is rapid. Largely monomeric, dimerizes on the HJ and the first nick occurs upon dimerization at the junction (PubMed:26578604). Efficiently cleaves both single and double HJs contained within large recombination intermediates. Exhibits a weak sequence preference for incision between two G residues that reside in a T-rich region of DNA (PubMed:28049850). Also has endonuclease activity on 5'-flap and replication fork (RF) DNA substrates (PubMed:26578604)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; GEN1 activity cannot be substituted for the SLX4-associated nucleases, and one of the HJ resolvase activities, either of those associated with SLX4 or with GEN1, is required for cell viability, even in the presence of BLM., [RefSeq, PubMed]; GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract. Publication Status: Online-Only, [RefSeq, PubMed]; GEN1 is controlled by nuclear exclusion, driven by a nuclear export signal that restricts GEN1 actions to mitosis. Spatial control of GEN1 contributes to genome stability by avoiding competition with non-crossover promoting repair pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Human GEN1 protein promotes Holliday junction resolution by a mechanism that is analogous to that exhibited by the prototypic HJ resolvase E. coli RuvC., [RefSeq, PubMed]; Our findings provide novel insight into the biological functions of GEN1 by uncovering an important role of GEN1 in the regulation of centrosome integrity., [RefSeq, PubMed]; Recombinant GEN1 and Yen1 resolve Holliday junctions by the introduction of symmetrically related cuts across the junction point, to produce nicked duplex products in which the nicks can be readily ligated, [RefSeq, PubMed]; Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G)., [RefSeq, PubMed]; This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q17RS9;Q6ZN37", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "5.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.22.-", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0042803 protein homodimerization activity;GO:0000400 four-way junction DNA binding;GO:0008821 crossover junction DNA endonuclease activity;GO:0017108 5'-flap endonuclease activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0010824 regulation of centrosome duplication;GO:0000724 double-strand break repair via homologous recombination;GO:0031297 replication fork processing;GO:0090267 positive regulation of mitotic cell cycle spindle assembly checkpoint;GO:0071139 resolution of DNA recombination intermediates", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q17RS7-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZNW5-1", "uniprot_id": [ { "id": "GDPP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZNW5", "type": "external" } ], "mass": 42362.0, "length": 385, "protein_name": "GDP-D-glucose phosphorylase 1", "gene_name": "GDPGP1", "organism": "Human", "refseq_name": "GDP-D-glucose phosphorylase 1", "refseq_ac": [ { "id": "NP_001013679", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013679", "type": "external" } ], "gene_names_uniprotkb": "GDPGP1; C15orf58", "gene_names_refseq": "C15orf58; GDPGP1; VTC2", "protein_names_uniprotkb": "GDP-D-glucose phosphorylase 1; 2.7.7.78", "protein_names_refseq": "GDP-D-glucose phosphorylase 1; GDP-D-glucose phosphorylase C15orf58", "tax_id": 9606, "disease": "", "pathway": " (hsa:390637)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;21507950;32357974;32387766;32938616;33298915;34509645;34561969;40914422", "class_list": "", "function": "C15orf58 in humans and C10F3.4 in C. elegans display GDP-hexose phosphorylase activity but the major reaction catalyzed by these enzymes is the phosphorolysis of GDP-D-glucose to GDP and D-glucose 1-phosphate, [RefSeq, PubMed]; Specific and highly efficient GDP-D-glucose phosphorylase regulating the levels of GDP-D-glucose in cells (PubMed:21507950). Is involved in adaptive response to stress conditions, and plays a key role in neuronal stress resistance by modulating neuronal glycogen levels and maintaining glucose balance (By similarity)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.7.7.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.78", "type": "external" } ], "go_molecular_function": "GO:0016787 hydrolase activity;GO:0000166 nucleotide binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0080048 GDP-D-glucose phosphorylase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006006 glucose metabolic process;GO:0006950 response to stress", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6ZNW5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVF7-1", "uniprot_id": [ { "id": "FMNL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVF7", "type": "external" } ], "mass": 117213.0, "length": 1028, "protein_name": "Formin-like protein 3", "gene_name": "FMNL3", "organism": "Human", "refseq_name": "formin-like protein 3 isoform 1", "refseq_ac": [ { "id": "NP_783863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_783863", "type": "external" } ], "gene_names_uniprotkb": "FMNL3; FHOD3; FRL2; KIAA2014; WBP3", "gene_names_refseq": "FHOD3; FMNL3; FRL2; WBP-3; WBP3", "protein_names_uniprotkb": "Formin-like protein 3; Formin homology 2 domain-containing protein 3; WBP-3; WW domain-binding protein 3", "protein_names_refseq": "WW domain binding protein 3; formin homology 2 domain-containing protein 3; formin-like protein 3 isoform 1; formin-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:91010); (R-HSA-5663220); (R-HSA-8980692); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013409)", "pathway_count": 6, "publication_count": 362, "publication_id_list": "10037681;10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10600384;10619026;10678165;10699171;10699464;10724160;10873388;10873802;10958683;10967094;11007481;11058585;11085924;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12172552;12195014;12221077;12221096;12351724;12429848;12432077;12456725;12464619;12531887;12547822;12577064;12650940;12684686;12732141;12773384;12805219;12857875;12860998;12877655;12907671;14506234;14512443;15006353;15023524;15064355;15085137;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15485661;15507212;15601624;15611138;15710388;15728722;15850391;15864301;15866170;15897194;15944396;16112081;16116428;16184169;16217026;16292343;16439214;16467373;16519628;16622419;16622420;16630611;16714282;16776779;16777452;16777849;16862148;16896804;16914516;16943183;16968698;17030981;17064668;17077126;17129783;17145773;17196961;17198702;17214551;17244649;1737036;17562871;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18001770;18045877;18056264;18097444;18158243;18218625;18363964;18426980;18653540;18669648;18786931;18829452;18835169;18838382;18923426;18929667;19350017;19494238;19605563;19635168;19673492;19713215;19815554;19934221;20030946;20101212;20213681;20400958;20591975;20628200;20660154;20679435;20862687;21148482;21351730;21397845;21454492;21542010;21565175;21576392;21613211;21685891;21699497;21757538;21834987;21865595;21868368;21936715;21989057;22004470;22094460;22096251;22275430;22298643;22305756;22461490;22544926;22571869;22608513;22645359;22673745;22790947;22911862;22970203;22971344;22992742;23029280;23200924;23222643;23255595;23406282;23434736;23481700;23572525;23718289;23783831;23801653;23870313;24086303;24128008;24259668;24335996;24352656;24584464;24714562;24715725;24914801;24933155;24996924;25024229;25211221;25425145;25502872;25505266;25576301;25704760;25721503;25795300;25862245;25892735;25963737;26129894;26154972;26299518;26371245;26375851;26529257;26598554;26728094;26887924;27096001;27145964;27216196;27481945;27555588;27600516;27798618;27846572;27862975;27920218;27986909;28028151;28112683;28196833;28228285;28514659;28584191;28825699;28832583;28855257;28860633;28904123;29146911;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30061681;30315122;30379171;30410026;30429286;30620550;30853411;31105010;31217245;31751425;31844290;31871319;32157095;32203420;32265295;32302585;32350084;32357974;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;34078123;34171305;34185709;34932366;34949658;35051231;35154160;35318648;35428519;35494241;35561310;35580925;36010968;36241641;36284347;37938771;39894887;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8994827;9013646;9111050;9113980;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9649308;9659915;9670022;9792683;9822605;9829970;9843499;9846874", "class_list": "", "function": "Bioinformatic Prediction of Novel Signaling Pathways of Apoptosis-inducing Factor, Mitochondrion-associated 3 (AIFM3) and Their Roles in Metastasis of Cholangiocarcinoma Cells., [RefSeq, PubMed]; Data suggest that the FH2 domain of FRL2 possesses properties not shared by FRL1 that allow it to generate filopodia., [RefSeq, PubMed]; Formin-like 3 (FMNL3) is a crucial regulator of endothelial cell elongation during angiogenesis., [RefSeq, PubMed]; Hsa_circ_0081534 facilitates malignant phenotypes by sequestering miR-874-3p and upregulating FMNL3 in nasopharyngeal carcinoma., [RefSeq, PubMed]; Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Required for developmental angiogenesis (By similarity). In this process, required for microtubule reorganization and for efficient endothelial cell elongation. In quiescent endothelial cells, triggers rearrangement of the actin cytoskeleton, but does not alter microtubule alignment., [UniProtKB, UniProtKB, PubMed, PubMed]; Results demonstrated that N-myristoylation-dependent phosphorylation in FMNL3 occurs at a single Ser residue at position 174, which is a Ser residue conserved between FMNL2 and FMNL3, corresponding to Ser-171 in FMNL2. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B0JZA7;Q6ZRJ1", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0031267 small GTPase binding;GO:0032794 GTPase activating protein binding;GO:0003779 actin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0016477 cell migration;GO:0046847 filopodium assembly;GO:0030036 actin cytoskeleton organization;GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 36.7, "record_id": "Q8IVF7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHY8-1", "uniprot_id": [ { "id": "FEZ2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHY8", "type": "external" } ], "mass": 39666.0, "length": 353, "protein_name": "Fasciculation and elongation protein zeta-2", "gene_name": "FEZ2", "organism": "Human", "refseq_name": "fasciculation and elongation protein zeta-2 isoform 2", "refseq_ac": [ { "id": "NP_001036013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036013", "type": "external" } ], "gene_names_uniprotkb": "FEZ2", "gene_names_refseq": "FEZ2; HUM3CL", "protein_names_uniprotkb": "Fasciculation and elongation protein zeta-2; Zygin II; Zygin-2", "protein_names_refseq": "fasciculation and elongation protein zeta-2 isoform 2; pre-T/NK cell associated protein (3Cl); zygin 2; zygin II", "tax_id": 9606, "disease": "colorectal adenoma (Disease Ontology:DOID:0050860); colorectal carcinoma (Disease Ontology:DOID:0080199); Jacobsen Syndrome (Disease Ontology:DOID:0111723); systemic scleroderma (Disease Ontology:DOID:418)", "pathway": " (hsa:9637)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "10.1101/2023.09.13.557529;10931946;11237011;14697253;16484223;18077418;19664994;20812761;21408165;23186163;23481700;24275569;25576301;25645385;26154972;26375851;26992070;27862975;28832583;28904123;29242379;29508533;29557506;29786170;30379171;30429286;31844290;31848261;32157095;32502341;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33968037;34211107;34509645;35051231;35318648;35580925;36010968;9096408", "class_list": "", "function": "FEZ2 interacted with 59 proteins and that of these only 40 interacted with FEZ1. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in axonal outgrowth and fasciculation., [UniProtKB]; This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Other orthologs include the rat gene that encodes zygin II, which can bind to synaptotagmin. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5EBN3;Q76LN0;Q99690", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0030424 axon", "go_biological_process": "GO:1902902 negative regulation of autophagosome assembly;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9UHY8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N2G8-1", "uniprot_id": [ { "id": "GHDC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N2G8", "type": "external" } ], "mass": 57523.0, "length": 530, "protein_name": "GH3 domain-containing protein", "gene_name": "GHDC", "organism": "Human", "refseq_name": "GH3 domain-containing protein isoform 3 precursor", "refseq_ac": [ { "id": "NP_001136095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136095", "type": "external" } ], "gene_names_uniprotkb": "GHDC; D11LGP1E; LGP1", "gene_names_refseq": "D11LGP1; GHDC; LGP1", "protein_names_uniprotkb": "GH3 domain-containing protein", "protein_names_refseq": "GH3 domain-containing protein isoform 3 precursor; GH3 domain-containing protein; homolog of mouse LGP1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84514); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "11161808;11237011;23650620;24714562;25576301;26154972;26797129;26811146;26853435;26992070;27600516;27846572;27862975;27920218;28218747;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29789417;30429286;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34171305;34509645;34932366;35051231;35251023;35318648;35580925;36284347;37938771;8692836", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DQS4;E9PDB5;Q9BXM6", "ec_number_list": [], "go_molecular_function": "GO:0016881 acid-amino acid ligase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q8N2G8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96C11-1", "uniprot_id": [ { "id": "FGGY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96C11", "type": "external" } ], "mass": 59993.0, "length": 551, "protein_name": "FGGY carbohydrate kinase domain-containing protein", "gene_name": "FGGY", "organism": "Human", "refseq_name": "FGGY carbohydrate kinase domain-containing protein isoform a", "refseq_ac": [ { "id": "NP_001106882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001106882", "type": "external" } ], "gene_names_uniprotkb": "FGGY", "gene_names_refseq": "FGGY", "protein_names_uniprotkb": "FGGY carbohydrate kinase domain-containing protein; 2.7.1.47; D-ribulokinase FGGY", "protein_names_refseq": "D-ribulokinase FGGY; D-ribulokinase; FGGY carbohydrate kinase domain-containing protein isoform a; FGGY carbohydrate kinase domain-containing protein", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 1 (Disease Ontology:DOID:0060193); amyotrophic lateral sclerosis (Disease Ontology:DOID:332)", "pathway": " (hsa:55277)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;17671248;19193627;19464757;19922123;19922138;23481700;24439956;25576301;27909055;28832583;29786170;30429286;31289132;31844290;32357974;32502341;32983136;33968037;34185709;34932366;35051231;35580925;36010968;36284347;40136647", "class_list": "", "function": "Catalyzes ATP-dependent phosphorylation of D-ribulose at C-5 to form D-ribulose 5-phosphate. Postulated to function in a metabolite repair mechanism by preventing toxic accumulation of free D-ribulose formed by non-specific phosphatase activities. Alternatively, may play a role in regulating D-ribulose 5-phosphate recycling in the pentose phosphate pathway. Can phosphorylate ribitol with low efficiency., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; LINE-1-FGGY expression corresponded with smoke-induced LINE-1 promoter hypomethylation, lipid metabolism dysregulation, and immune microenvironment alteration in the lung squamous cell carcinoma., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results suggest that common genetic variation in FGGY is not associated with susceptibility to sporadic ALS in genetically homogeneous populations from northern Europe. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; S. cerevisiae Ydr109c and human FGGY could act as metabolite repair enzymes, serving to re-phosphorylate free d-ribulose generated by promiscuous phosphatases from d-ribulose 5-phosphate. In human cells, FGGY can additionally participate in ribitol metabolism., [RefSeq, PubMed]; Single-nucleotide polymorphism in FGGY is not associated with amyotrophic lateral sclerosis in a large Chinese cohort., [RefSeq, PubMed]; The result of this study suggested that FLJI0986 that do not modulate the risk for SALS in the German population., [RefSeq, PubMed]; This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]., [RefSeq]; Variants of FLJ10986 may confer susceptibility to sporadic ALS (amyotrophic lateral sclerosis). GeneRIF: Genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B1AK92;B1AK93;B1AK94;B2RDR8;D3DQ56;Q9HA63;Q9NV20", "ec_number_list": [ { "id": "2.7.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.47", "type": "external" } ], "go_molecular_function": "GO:0019150 D-ribulokinase activity;GO:0016301 kinase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0070050 neuron cellular homeostasis;GO:0019321 pentose metabolic process;GO:0046835 carbohydrate phosphorylation;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q96C11-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5Q0-1", "uniprot_id": [ { "id": "FADS3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5Q0", "type": "external" } ], "mass": 51145.0, "length": 445, "protein_name": "Fatty acid desaturase 3", "gene_name": "FADS3", "organism": "Human", "refseq_name": "fatty acid desaturase 3", "refseq_ac": [ { "id": "NP_068373", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068373", "type": "external" } ], "gene_names_uniprotkb": "FADS3; CYB5RP", "gene_names_refseq": "CYB5RP; FADS3; LLCDL3", "protein_names_uniprotkb": "Fatty acid desaturase 3; 1.14.19.-; Delta(13) desaturase; Delta(13) fatty acid desaturase; FADS3", "protein_names_refseq": "cytochrome b5-related protein; delta(13) desaturase; delta(13) fatty acid desaturase; delta-9 fatty acid desaturase; delta-9-desaturase; fatty acid desaturase 3; linoleoyl-CoA desaturase (delta-9-desaturase)-like 3", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); Luo-Schoch-Yamamoto syndrome (Disease Ontology:DOID:0070416); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); lipid metabolism disorder (Disease Ontology:DOID:3146)", "pathway": " (hsa:3995)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10860662;11237011;19060906;19060911;19148276;19750004;19752397;25576301;25892735;26992070;27397612;27846572;28514659;28834231;28855257;28904123;29393594;29769354;31844290;31862735;31916624;32157095;32357974;32387766;32502341;32897882;32938616;33298915;33592498;33912179;33936100;33968037;34171305;34185709;35051231;35580925;36010968;36215666;36241641;36626435;36652541;37209771", "class_list": "", "function": "Biosynthesis of the anti-lipid-microdomain sphingoid base 4,14-sphingadiene by the ceramide desaturase FADS3., [RefSeq, PubMed]; FADS3 is a Delta14Z sphingoid base desaturase that contributes to gender differences in the human plasma sphingolipidome., [RefSeq, PubMed]; Mammals have different sphingoid bases that differ in their length and/or pattern of desaturation and hydroxyl groups. The predominant sphingoid base that comprises mammalian ceramides is sphing-4-enine (sphingosine or SPH) which has a trans (E) desaturation at carbon 4 (PubMed:31862735, PubMed:31916624). FADS3 is a desaturase that introduces a cis (Z) double bond between carbon 14 and carbon 15 of the sphingoid base (also known as long chain base, LCB), producing LCBs such as sphinga-4,14-dienine (SPD, d18:2(4E,14Z)) from SPH (PubMed:31862735, PubMed:31916624, PubMed:37209771). Prefers SPH-containing ceramides (N-acylsphing-4-enines) as substrates (PubMed:31862735, PubMed:31916624, PubMed:37209771). Capable of metabolizing also the SPH in its free form (PubMed:31862735). SPD ceramides occur widely in mammalian tissues and cells (PubMed:31916624). Due to their unusual structure containing a cis double bond, SPD ceramides may have an opposite, negative role in lipid microdomain formation relative to conventional ceramides (PubMed:31916624). Could be involved in the detoxification of 1-deoxy sphingolipids, by desaturating the cytotoxic 1-deoxysphinganine (1-deoxySA, m18:0), produced under pathological conditions, to 1-deoxysphingenine (1-deoxysphingosine, 1-deoxySO, m18:1) (Probable). Although prefers SPH-containing ceramides (N-acylsphing-4-enines) as substrates, it also exhibits activity toward dihydrosphingosine-containing CERs (N-acylsphinganines) and produces 14Z-SPH-containing sphingolipids,which can be found in patients with DEGS1 mutations (PubMed:37209771). Its desaturase mechanism involves an electron transfer facilitated by cytochrome b5 (PubMed:37209771). FADS3 also acts as a methyl-end fatty acyl coenzyme A (CoA) desaturase that introduces a cis double bond between the preexisting double bond and the terminal methyl group of the fatty acyl chain (By similarity). Desaturates (11E)-octadecenoate (trans-vaccenoate, the predominant trans fatty acid in human milk) at carbon 13 to generate (11E,13Z)-octadecadienoate (also known as conjugated linoleic acid 11E,13Z-CLA) (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; Overexpression of fatty acid desaturase 3 predicts poor prognosis in head and neck squamous cell carcinoma., [RefSeq, PubMed]; Placental expression of Fatty Acid Desaturases 1, 2 and 3 in selected pregnancy pathologies., [RefSeq, PubMed]; The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]., [RefSeq]; USF1 and FADS3 are causal candidate genes for the Mexican familial combined hyperlipidemia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O60426", "ec_number_list": [ { "id": "1.14.19.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.-", "type": "external" } ], "go_molecular_function": "GO:0016717 oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006665 sphingolipid metabolic process;GO:0006636 unsaturated fatty acid biosynthetic process;GO:0006633 fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9Y5Q0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36969-1", "uniprot_id": [ { "id": "GPX4_HUMAN", "url": "https://www.uniprot.org/uniprot/P36969", "type": "external" } ], "mass": 22175.0, "length": 197, "protein_name": "Phospholipid hydroperoxide glutathione peroxidase GPX4", "gene_name": "GPX4", "organism": "Human", "refseq_name": "phospholipid hydroperoxide glutathione peroxidase GPX4 isoform B precursor", "refseq_ac": [ { "id": "NP_001034936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034936", "type": "external" } ], "gene_names_uniprotkb": "GPX4", "gene_names_refseq": "GPX4; GPx-4; GSHPx-4; MCSP; PHGPx; SMDS; snGPx; snPHGPx", "protein_names_uniprotkb": "Phospholipid hydroperoxide glutathione peroxidase GPX4; 1.11.1.12; 1.11.1.9; GPx-4; GSHPx-4; Glutathione peroxidase 4; PHGPx", "protein_names_refseq": "epididymis secretory sperm binding protein; phospholipid hydroperoxidase; phospholipid hydroperoxide glutathione peroxidase GPX4 isoform B precursor; phospholipid hydroperoxide glutathione peroxidase GPX4; phospholipid hydroperoxide glutathione peroxidase, mitochondrial; selenoprotein GPX4; sperm nucleus glutathione peroxidase", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); spondylometaphyseal dysplasia Sedaghatian type (Disease Ontology:DOID:0112298); pre-eclampsia (Disease Ontology:DOID:10591); nephrotic syndrome (Disease Ontology:DOID:1184); colon cancer (Disease Ontology:DOID:219); acute kidney failure (Disease Ontology:DOID:3021); gastric adenocarcinoma (Disease Ontology:DOID:3717); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:2879); (R-HSA-2142688); (R-HSA-2142712); (R-HSA-2142770)", "pathway_count": 4, "publication_count": 82, "publication_id_list": "10549853;10692117;11115402;11237011;11839751;11898409;12606444;12881489;14642406;15629692;15772423;1662607;17630701;17662651;18570379;19082953;21558561;2217179;2318885;2377602;24439385;24706940;2501828;25645385;25892735;26154972;26370990;26992070;27600516;27836545;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632711;29769354;29786170;3006030;30315122;30779550;3118366;3164719;31844290;31848261;32157095;32350084;32357974;32502341;32938616;32983136;33592498;33717175;33912179;33968037;33981976;34357683;34561969;35251023;35580925;36010968;36284347;36581221;36608588;37938771;38665916;39158281;39300068;39390559;40281343;6816802;7568157;8039723;8334154;8428933;9618483;9705830", "class_list": "", "function": "Essential antioxidant peroxidase that directly reduces phospholipid hydroperoxide even if they are incorporated in membranes and lipoproteins (PubMed:40281343). Can also reduce cholesterol hydroperoxide and thymine hydroperoxide (By similarity). Plays a key role in protecting cells from oxidative damage by preventing membrane lipid peroxidation (PubMed:40281343). Required to prevent cells from ferroptosis, a non-apoptotic cell death resulting from an iron-dependent accumulation of lipid reactive oxygen species (PubMed:24439385, PubMed:40281343). The presence of selenocysteine (Sec) versus Cys at the active site is essential for life: it provides resistance to overoxidation and prevents cells against ferroptosis (By similarity). The presence of Sec at the active site is also essential for the survival of a specific type of parvalbumin-positive interneurons, thereby preventing against fatal epileptic seizures (By similarity). May be required to protect cells from the toxicity of ingested lipid hydroperoxides (By similarity). Required for normal sperm development and male fertility (By similarity). Essential for maturation and survival of photoreceptor cells (By similarity). Plays a role in a primary T-cell response to viral and parasitic infection by protecting T-cells from ferroptosis and by supporting T-cell expansion (By similarity). Plays a role of glutathione peroxidase in platelets in the arachidonic acid metabolism (PubMed:11115402). Reduces hydroperoxy ester lipids formed by a 15-lipoxygenase that may play a role as down-regulator of the cellular 15-lipoxygenase pathway (By similarity). Can reduce fatty acid-derived hydroperoxides (PubMed:11115402, PubMed:36608588). Can also reduce small soluble hydroperoxides such as H2O2, cumene hydroperoxide and tert-butyl hydroperoxide (PubMed:17630701, PubMed:36608588)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; GPX4 restricts ferroptosis of NKp46[+]ILC3s to control intestinal inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; Glutathione peroxidase is a moonlighting protein that functions both as a peroxidase as well as a structural protein in mature spermatozoa., [RefSeq, PubMed]; Gpx4 Regulates Invariant NKT Cell Homeostasis and Function by Preventing Lipid Peroxidation and Ferroptosis., [RefSeq, PubMed]; KLF14 directly downregulates the expression of GPX4 to exert antitumor effects by promoting ferroptosis in cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Lipids, cytokines and antioxidants modulate GPx4 in a complex manner that in the presence of adequate selenium, may favour protection against potentially proatherogenic processes., [RefSeq, PubMed]; The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme has a high preference for lipid hydroperoxides and protects cells against membrane lipid peroxidation and cell death. It is also required for normal sperm development; thus, it has been identified as a 'moonlighting' protein because of its ability to serve dual functions as a peroxidase, as well as a structural protein in mature spermatozoa. Mutations in this gene are associated with Sedaghatian type of spondylometaphyseal dysplasia (SMDS). This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Transcript variants resulting from alternative splicing or use of alternate promoters have been described to encode isoforms with different subcellular localization. [provided by RefSeq, Dec 2018]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O43381;Q6PJ59;Q9UPK2", "ec_number_list": [ { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" }, { "id": "2.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "1.11.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.12", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0004602 glutathione peroxidase activity;GO:0008430 selenium binding;GO:0047066 phospholipid-hydroperoxide glutathione peroxidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0007283 spermatogenesis;GO:0032355 response to estradiol;GO:0034599 cellular response to oxidative stress;GO:0019372 lipoxygenase pathway", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "P36969-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q10472-1", "uniprot_id": [ { "id": "GALT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q10472", "type": "external" } ], "mass": 64219.0, "length": 559, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 1", "gene_name": "GALNT1", "organism": "Human", "refseq_name": "polypeptide N-acetylgalactosaminyltransferase 1", "refseq_ac": [ { "id": "NP_065207", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065207", "type": "external" } ], "gene_names_uniprotkb": "GALNT1", "gene_names_refseq": "GALNAC-T1; GALNT1", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 1; 2.4.1.41; GalNAc-T1; Polypeptide GalNAc transferase 1; Protein-UDP acetylgalactosaminyltransferase 1; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1; pp-GaNTase 1", "protein_names_refseq": "GalNAc transferase 1; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1); polypeptide GalNAc transferase 1; polypeptide N-acetylgalactosaminyltransferase 1; pp-GaNTase 1; protein-UDP acetylgalactosaminyltransferase 1", "tax_id": 9606, "disease": "heart valve disease (Disease Ontology:DOID:4079)", "pathway": " (hsa:2589); (R-HSA-6811436); (R-HSA-913709); (R-HSA-9683673); (R-HSA-9694719)", "pathway_count": 5, "publication_count": 115, "publication_id_list": "10.1101/2023.09.13.557529;10330415;10359595;10430883;10559986;10562278;10753916;11042166;11080672;11237011;11283017;11304796;11483508;11821425;12401177;12432908;12447383;12855678;12925777;1329093;15483056;15486459;15489334;15560372;15620693;15914536;16207721;16314391;16474139;17113861;17488286;17827179;17970754;18512783;18537974;18641641;18664496;19635840;19753100;20420828;21173190;21269460;21300897;21654843;22130221;22183981;22562055;23333653;23783758;24190977;24643043;24891604;25233431;25453831;25502872;25505266;25576301;2681181;28188250;28467828;28832583;28904123;29242379;29314611;29317506;29557506;29632711;29774024;29915311;30389789;30429286;30573663;31020640;31836847;31844290;32157095;32350084;32387766;32897882;32938616;32983136;33043033;33284788;33392160;33592498;33936100;33968037;34171305;34357683;34509645;34932366;35051231;35154160;35251023;35289036;35580925;36010968;36439876;37074911;38665916;7592619;7655172;8663203;8690719;8727794;9030515;9050864;9295285;9394011;9417100;9435216;9671731;9733780;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "A mechanism of Ebola GP-induced cell detachment that depends solely on ectodomain bulkiness and identify a single host-derived glycosylation enzyme, ppGalNAc-T1, [RefSeq, PubMed]; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (PubMed:8690719, PubMed:9295285). Has a broad spectrum of substrates such as apomucin-, MUC5AC-, MUC1- and MUC2-derived peptides (PubMed:9295285)., [UniProtKB, PubMed, PubMed]; GALNT1 Enhances Malignant Phenotype of Gastric Cancer via Modulating CD44 Glycosylation to Activate the Wnt/beta-catenin Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; High Expression of N-Acetylgalactosaminyl-transferase 1 (GALNT1) Associated with Invasion, Metastasis, and Proliferation in Osteosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; LAMTOR5 raises abnormal initiation of O-glycosylation in breast cancer metastasis via modulating GALNT1 activity., [RefSeq, PubMed]; SNHG7 positively regulated GALNT1 level through sponging miR-216b, and played an oncogenic role in colorectal cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 1, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 1, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 496, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q86TJ7;Q9UM86", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0030145 manganese ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0019082 viral protein processing;GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 7434, "hit_score": 12.5, "record_id": "Q10472-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100001000000.110.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUY3-1", "uniprot_id": [ { "id": "GRM2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUY3", "type": "external" } ], "mass": 40249.0, "length": 354, "protein_name": "GRAM domain-containing protein 2A", "gene_name": "GRAMD2A", "organism": "Human", "refseq_name": "GRAM domain-containing protein 2A", "refseq_ac": [ { "id": "NP_001012660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012660", "type": "external" } ], "gene_names_uniprotkb": "GRAMD2A; GRAMD2", "gene_names_refseq": "GRAMD2A; GRAMD2", "protein_names_uniprotkb": "GRAM domain-containing protein 2A", "protein_names_refseq": "GRAM domain containing 2; GRAM domain-containing protein 2A; GRAM domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:196996)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;25576301;29469807;29557506;29789417;31844290;32938616;33981976;34185709;35051231;35580925;36241641", "class_list": "", "function": "GRAMD2a, but not GRAMD1a, co-localizes with the E-Syt2/3 tethers at endoplasmic reticulum-plasma membrane contact sites in a phosphatidylinositol phosphate lipid-dependent manner. Data from an analysis of cells lacking GRAMD2a suggest that it is an organizer of the membrane contact sites with pleiotropic functions including calcium homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Participates in the organization of endoplasmic reticulum-plasma membrane contact sites (EPCS) with pleiotropic functions including STIM1 recruitment and calcium homeostasis. Constitutive tether that co-localize with ESYT2/3 tethers at endoplasmic reticulum-plasma membrane contact sites in a phosphatidylinositol lipid-dependent manner. Pre-marks the subset of phosphtidylinositol 4,5-biphosphate (PI(4,5)P2)-enriched EPCS destined for the store operated calcium entry pathway (SOCE)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KT68", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0044232 organelle membrane contact site;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:2001256 regulation of store-operated calcium entry;GO:0061817 endoplasmic reticulum-plasma membrane tethering", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8IUY3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWM8-1", "uniprot_id": [ { "id": "FKB14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWM8", "type": "external" } ], "mass": 24172.0, "length": 211, "protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP14", "gene_name": "FKBP14", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase FKBP14 precursor", "refseq_ac": [ { "id": "NP_060416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060416", "type": "external" } ], "gene_names_uniprotkb": "FKBP14; FKBP22; PRO381", "gene_names_refseq": "EDSKMH; EDSKSCL2; FKBP14; FKBP22; IPBP12", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase FKBP14; 22 kDa FK506-binding protein; 22 kDa FKBP; 5.2.1.8; FK506-binding protein 14; FKBP-14; FKBP-22; PPIase FKBP14; Rotamase", "protein_names_refseq": "22 kDa FK506-binding protein; 22 kDa FKBP; FK506 binding protein 14, 22 kDa; FK506-binding protein 14; FKBP-22; PPIase FKBP14; peptidyl-prolyl cis-trans isomerase FKBP14 precursor; peptidyl-prolyl cis-trans isomerase FKBP14; rotamase", "tax_id": 9606, "disease": "Ehlers-Danlos syndrome kyphoscoliotic type 2 (Disease Ontology:DOID:0080735)", "pathway": " (hsa:55033); (R-HSA-381038)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10.1101/2023.09.13.557529;10601334;10827079;11237011;12204115;12975309;15340161;15466936;16461360;16539657;18664523;21282569;22265013;24190977;24272907;24821723;25576301;27600516;31844290;32157095;32350084;32938616;33592498;33968037;34504686;35051231;35251023;36054293;37074911;37894834;7590364;8666242;9037597;9450183;9473480", "class_list": "", "function": "Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases. Publication Status: Online-Only, [RefSeq, PubMed]; Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms., [RefSeq, PubMed]; Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III. Publication Status: Online-Only, [RefSeq, PubMed]; PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4-hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens., [UniProtKB, PubMed]; The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 9820, "biomarker_type": "", "glycan_count": 8, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9NWM8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZNL6-1", "uniprot_id": [ { "id": "FGD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZNL6", "type": "external" } ], "mass": 159891.0, "length": 1462, "protein_name": "FYVE, RhoGEF and PH domain-containing protein 5", "gene_name": "FGD5", "organism": "Human", "refseq_name": "FYVE, RhoGEF and PH domain-containing protein 5 isoform 1", "refseq_ac": [ { "id": "NP_689749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689749", "type": "external" } ], "gene_names_uniprotkb": "FGD5; ZFYVE23", "gene_names_refseq": "FGD5; ZFYVE23", "protein_names_uniprotkb": "FYVE, RhoGEF and PH domain-containing protein 5; Zinc finger FYVE domain-containing protein 23", "protein_names_refseq": "FYVE, RhoGEF and PH domain-containing protein 5 isoform 1; FYVE, RhoGEF and PH domain-containing protein 5; zinc finger FYVE domain-containing protein 23", "tax_id": 9606, "disease": "", "pathway": " (hsa:152273); (R-HSA-9013149)", "pathway_count": 2, "publication_count": 239, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10737800;10873802;10958683;11007481;11058585;11085924;11149925;11237011;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11961559;12071859;12093360;12096337;12195014;12221096;12351724;12432077;12531887;12546821;12547822;12650940;12665586;12857875;12877655;12923183;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15302923;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16243036;16473593;16492808;16507994;16519628;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17077126;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17976533;18006505;18045877;18218625;18249095;18347018;18396277;18426980;18653540;18838382;19269969;19494238;19605563;19664995;19673492;19713215;19934221;20400958;20460433;20679435;20810653;21148482;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22328776;22407364;22475431;22608513;22661514;22734669;22922960;22970203;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23940355;24086303;24259668;24335996;24352656;24715725;24859002;24933155;24960694;25024229;25211221;25428919;25704760;25721503;25795300;25862245;26129894;26529257;26748901;26887924;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;27862975;28114311;28196833;28904123;29089502;29358323;29382922;29557506;30853411;31154438;31217245;31492838;31871319;32157095;32203420;32387766;32983136;33892661;34034092;34171305;34427968;34882832;35051231;35580925;37725680;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9843499;9988689", "class_list": "", "function": "A high level of lncFGD5-AS1 inhibits epithelial-to-Mesenchymal transition by regulating the miR-196a-5p/SMAD6/BMP axis in gastric Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Mediates VEGF-induced CDC42 activation. May regulate proangiogenic action of VEGF in vascular endothelial cells, including network formation, directional movement and proliferation. May play a role in regulating the actin cytoskeleton and cell shape., [UniProtKB, PubMed]; Common Variants on FGD5 Increase Hazard of Mortality or Rehospitalization in Patients With Heart Failure From the ASCEND-HF Trial., [RefSeq, PubMed]; FGD5 facilitates tumor growth by regulating EGFR ubiquitination in gastric cancer., [RefSeq, PubMed]; FGD5 inhibits neovascularization, indicated by in vitro tube-formation, aortic-ring, and coated-bead assays and by in vivo coated-bead plug assays and studies in the murine retina model. Erratum:[Circulation. 2012 Sep 18;126(12):e194], [RefSeq, PubMed]; FGD5 regulates endothelial adhesion, survival, and angiogenesis by modulating phosphatidylinositol 3-kinase signaling., [RefSeq, PubMed]; FGD5 regulates endothelial cell PI3 kinase-beta to promote neo-angiogenesis., [RefSeq, PubMed]; Faciogenital dysplasia 5 confers the cancer stem cell-like traits of gastric cancer cells through enhancing Sox2 protein stability., [RefSeq, PubMed]; Suggest that FGD5 regulates proangiogenic action of VEGF in vascular endothelial cells, including network formation, permeability, directional movement, and proliferation., [RefSeq, PubMed]; We provide the first report that pro-angiogenic genes PECAM1, PTGS1, FGD5, and MCAM may play a vital role in pathological dermal angiogenesis disorders of psoriasis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KVQ3;Q6MZY1;Q7Z303;Q8IYP3;Q8N861;Q8N8G4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0043087 regulation of GTPase activity;GO:0046847 filopodium assembly;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030036 actin cytoskeleton organization;GO:0007010 cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 24.4, "record_id": "Q6ZNL6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3T8J9-1", "uniprot_id": [ { "id": "GON4L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3T8J9", "type": "external" } ], "mass": 248620.0, "length": 2241, "protein_name": "GON-4-like protein", "gene_name": "GON4L", "organism": "Human", "refseq_name": "GON-4-like protein isoform c", "refseq_ac": [ { "id": "NP_001269785", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269785", "type": "external" } ], "gene_names_uniprotkb": "GON4L; GON4; KIAA1606; YARP", "gene_names_refseq": "GON-4; GON4L; GON4; LTMS; YARP", "protein_names_uniprotkb": "GON-4-like protein; GON-4 homolog; Yin Yang 1-associated-related protein", "protein_names_refseq": "2610100B20Rik; GON-4-like protein isoform c; GON-4-like protein; YY1AP related protein; YY1AP-related protein1; gon-4 homolog; yin Yang 1-associated-related protein", "tax_id": 9606, "disease": "salivary gland cancer (Disease Ontology:DOID:8850); Li-Takada-Miyake syndrome (MONDO:MONDO:0978303)", "pathway": " (hsa:54856)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "11230166;11237011;17297563;21406692;21454521;23186163;24714562;24715725;25339177;25576301;25880248;26154972;26375851;26992070;27312530;27397612;27846572;28411811;29351928;29437277;29493099;29557506;30315122;30379171;30410026;30429286;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32722282;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34185709;35051231;35154160;35580925;36010968;36241641;36284347;37938771;39500882;40516528;40516529", "class_list": "", "function": "Acts as a key transcription regulator of histones (PubMed:25339177, PubMed:40516528, PubMed:40516529). Activates transcription of the histone H2A, histone H2B, histone H3 and histone H4 genes in conjunction with GON4L and MIZF (PubMed:25339177). Together with CRAMP1, binds to the promoters of H1 genes (H1-2, H1-3, H1-4, H1-5 and H1-10/H1x), driving their transcription (PubMed:40516528, PubMed:40516529). Also acts as a transcription corepressor, as part of a complex with YY1, SIN3A and HDAC1 (By similarity). Required for B-cell lymphopoiesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Our results define GON4L as a novel driver of cancer growth, [RefSeq, PubMed]; Sin3a, HDAC1, and YY1 are co-factors for Gon4l and that Gon4l may function as a platform for the assembly of complexes that regulate gene expression., [RefSeq, PubMed]; Structural Analysis of the SANT/Myb Domain of FLASH and YARP Proteins and Their Complex with the C-Terminal Fragment of NPAT by NMR Spectroscopy and Computer Simulations. Publication Status: Online-Only, [RefSeq, PubMed]; Study describes the cloning of a novel homolog of YY1AP, referred to as YARP; it is proposed that YARP is multifunctional and plays not only a role analogous to YY1AP, but also its own specific roles in DNA-utilizing processes such as transcription, [RefSeq, PubMed]; The conserved C-terminal domain shared by FLASH, YARP, and Mute recognizes the C-terminal sequence of NPAT orthologues, thus acting as a signal targeting proteins to histone locus bodies., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7ZBL4;Q14C93;Q3T8J8;Q5VYZ5;Q5W0D5;Q6AWA6;Q6P1Q6;Q7Z3L3;Q8IY79;Q9BQI1;Q9HCG6", "ec_number_list": [], "go_molecular_function": "GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q3T8J9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00451-1", "uniprot_id": [ { "id": "GFRA2_HUMAN", "url": "https://www.uniprot.org/uniprot/O00451", "type": "external" } ], "mass": 51544.0, "length": 464, "protein_name": "GDNF family receptor alpha-2", "gene_name": "GFRA2", "organism": "Human", "refseq_name": "GDNF family receptor alpha-2 isoform b", "refseq_ac": [ { "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510", "type": "external" } ], "gene_names_uniprotkb": "GFRA2; GDNFRB; RETL2; TRNR2", "gene_names_refseq": "GDNFRB; GFRA2; NRTNR-ALPHA; NTNRA; RETL2; TRNR2", "protein_names_uniprotkb": "GDNF family receptor alpha-2; GDNF receptor alpha-2; GDNF receptor beta; GDNFR-alpha-2; GDNFR-beta; GFR-alpha-2; NRTNR-alpha; NTNR-alpha; Neurturin receptor alpha; RET ligand 2; TGF-beta-related neurotrophic factor receptor 2", "protein_names_refseq": "GDNF family receptor alpha-2 isoform b; GDNF receptor beta; GDNFR-alpha-2; GDNFR-beta; GFR-alpha 2; NTNR-alpha; PI-linked cell-surface accessory protein; RET ligand 2; TGF-beta-related neurotrophic factor receptor 2; TRN receptor, GPI-anchored; glial cell line derived neurotrophic factor receptor, beta; neurturin receptor alpha", "tax_id": 9606, "disease": "Parkinsonism (Disease Ontology:DOID:0080855)", "pathway": " (hsa:2675); (R-HSA-419037); (R-HSA-5673001); (R-HSA-8853659)", "pathway_count": 4, "publication_count": 115, "publication_id_list": "10.1038/emboj.2013.79;10448070;10508167;10829012;10869344;10995764;11000521;11002419;11027663;11090077;11136978;11237011;11237712;11313946;11360177;11390647;11470823;11491658;11546808;11702783;11886862;12032311;12094235;12121613;12242309;12765789;12771945;14506247;14707138;14766744;15044950;15286081;15356145;1545823;15546878;15569713;16267048;16627759;16684964;1716764;17522305;17998941;18059411;18775330;1898771;19279408;19920141;20478380;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23090970;23103841;23303910;23333276;23443682;23575685;23584533;24190977;24897931;24937142;25219551;25781681;26085527;26992070;2809592;28778966;28834231;29414779;29724592;30459171;30722993;31135801;31392261;31535977;32983136;36010968;37074911;37938771;6148751;7665556;7809086;7935463;7972015;8052307;8262246;8394845;8493579;8628282;8631863;8637703;8662982;8663426;8665852;8674117;8710374;8939933;9047384;9177201;9182803;9192684;9259272;9299438;9398268;9407096;9491986;9604935;9764818;9883723;9927426", "class_list": "", "function": "A novel genome-wide significant locus at GFRA2 on chromosome 8p21.3 was identified to be associated with disease risk, and expression analyses showed that the risk-associated allele at rs36196656 decreased GFRA2 mRNA concentrations in GFRA2 tissue., [RefSeq, PubMed]; Biophysical results show that the relative concentration of GFRa2 on cell surfaces can affect the functional affinity of NRTN through avidity effects., [RefSeq, PubMed]; Both GFR alpha2a and GFR alpha2c, but not GFR alpha2b, promote neurite outgrowth in transfected Neuro2A cells., [RefSeq, PubMed]; GFRA2 was upregulated in human neuroblastoma cells and tissues, and promoted neuroblastoma cell proliferation through interacting with the tumor suppressor PTEN., [RefSeq, PubMed]; Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]; Participates in NRTN-induced 'Ser-727' phosphorylation of STAT3., [UniProtKB, UniProtKB]; Receptor for neurturin (NRTN), a growth factor that supports the survival of sympathetic neurons (PubMed:10829012, PubMed:29414779, PubMed:31535977, PubMed:9182803). NRTN-binding leads to autophosphorylation and activation of the RET receptor (PubMed:31535977). Also able to mediate GDNF signaling through the RET tyrosine kinase receptor (PubMed:9182803)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; We have reconstituted the complete extracellular region of the RET signaling complex together with Neurturin (NRTN) and GFRalpha2 and determined its structure at 5.7-A resolution by cryo-EM. The proteins form an assembly through RET-GFRalpha2 and RET-NRTN interfaces. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "E9PD47;O15316;O15328;Q58J92;Q6GTR9;Q7Z5C2", "ec_number_list": [], "go_molecular_function": "GO:1904399 heparan sulfate binding;GO:0016167 glial cell-derived neurotrophic factor receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0009897 external side of plasma membrane;GO:0019898 extrinsic component of membrane", "go_biological_process": "GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "O00451-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PRD1-1", "uniprot_id": [ { "id": "GP179_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PRD1", "type": "external" } ], "mass": 257363.0, "length": 2367, "protein_name": "Probable G protein-coupled receptor 179", "gene_name": "GPR179", "organism": "Human", "refseq_name": "probable G-protein coupled receptor 179 precursor", "refseq_ac": [ { "id": "NP_001004334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004334", "type": "external" } ], "gene_names_uniprotkb": "GPR179; GPR158L1; GPR158L", "gene_names_refseq": "CSNB1E; GPR158L1; GPR158L; GPR179", "protein_names_uniprotkb": "Probable G protein-coupled receptor 179; GPR158-like; Probable G protein-coupled receptor 158-like 1", "protein_names_refseq": "GPR158-like 1; probable G-protein coupled receptor 158-like 1; probable G-protein coupled receptor 179 precursor; probable G-protein coupled receptor 179", "tax_id": 9606, "disease": "congenital stationary night blindness 1E (Disease Ontology:DOID:0110869)", "pathway": " (hsa:440435)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;22325361;22325362;23714322;24084093;24715725;27428514;28832583;28904123;29242379;29393594;29557506;30282023;30429286;31844290;33592498;37490546;38253038", "class_list": "", "function": "Additional screening with Sanger sequencing of 40 patients identified three other cCSNB patients harboring additional allelic mutations in GPR179. Erratum:[Am J Hum Genet. 2012 Jul 13;91(1):209], [RefSeq, PubMed]; Authors identify that major components of the extracellular matrix proteins present in the synaptic cleft-members of the heparan sulfate proteoglycan (HSPG) family-associate with the GPR158/179 group of orphan receptors., [RefSeq, PubMed]; In this study, a novel compound heterozygous mutation, c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3 gene of a proband. No mutations were identified in the CABP4 or GPR179 gene., [RefSeq, PubMed]; Orphan receptor involved in vision (PubMed:22325362, PubMed:24084093). Required for signal transduction through retinal depolarizing bipolar cells (PubMed:22325362). Acts as an atypical G protein-coupled receptor that recruits and regulates the R7 group RGS-GNB5 complexes instead of activating G proteins: promotes the GTPase activator activity of R7 RGS proteins, increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (By similarity). Associates with components of metabotropic signaling cascade in retina ON-bipolar neurons, such as TRPM1 and GRM6: may control the ability of the GRM6 cascade to gate TRPM1 (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Structure of the photoreceptor synaptic assembly of the extracellular matrix protein pikachurin with the orphan receptor GPR179., [RefSeq, PubMed]; This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E. [provided by RefSeq, Apr 2012]., [RefSeq]; We found 1 mutation in GPR179 in congenital stationary night blindness., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 2, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0030425 dendrite;GO:0045211 postsynaptic membrane;GO:0044292 dendrite terminus;GO:0051286 cell tip", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0007601 visual perception", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q6PRD1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVS2-1", "uniprot_id": [ { "id": "FABD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVS2", "type": "external" } ], "mass": 42962.0, "length": 390, "protein_name": "Malonyl-CoA-acyl carrier protein transacylase, mitochondrial", "gene_name": "MCAT", "organism": "Human", "refseq_name": "malonyl-CoA-acyl carrier protein transacylase, mitochondrial isoform b precursor", "refseq_ac": [ { "id": "NP_055322", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055322", "type": "external" } ], "gene_names_uniprotkb": "MCAT; MT", "gene_names_refseq": "FASN2C; MCAT; MCT1; MCT; MT; NET62; OPA15; fabD", "protein_names_uniprotkb": "Malonyl-CoA-acyl carrier protein transacylase, mitochondrial; 2.3.1.39; MCT; Mitochondrial malonyl CoA:ACP acyltransferase; Mitochondrial malonyltransferase; [Acyl-carrier-protein] malonyltransferase", "protein_names_refseq": "[Acyl-carrier-protein] malonyltransferase; [acyl-carrier-protein] S-malonyltransferase; malonyl CoA:ACP acyltransferase (mitochondrial); malonyl-CoA-acyl carrier protein transacylase, mitochondrial isoform b precursor; malonyl-CoA-acyl carrier protein transacylase, mitochondrial; mitochondrial malonyl CoA:ACP acyltransferase; mitochondrial malonyltransferase", "tax_id": 9606, "disease": "optic atrophy (Disease Ontology:DOID:5723); optic atrophy 15 (MONDO:MONDO:0957935)", "pathway": " (hsa:27349); (R-HSA-77289)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "11237011;11696000;12882974;15638818;16423998;16934754;16940157;17762044;17953517;18268358;18477386;19170545;19549604;20338778;20470824;21237683;22465940;22586271;22871024;23700546;23901139;24080521;24732803;25002576;26290611;28510447;28904123;30192525;30379171;31844290;31915829;32488085;33918393;33968037;35051231;36482135;4721607;8241273", "class_list": "", "function": "Catalyzes the transfer of a malonyl moiety from malonyl-CoA to the free thiol group of the phosphopantetheine arm of the mitochondrial ACP protein (NDUFAB1) (PubMed:12882974, PubMed:19549604). This suggests the existence of the biosynthesis of fatty acids in mitochondria (PubMed:12882974). Also acts as a mitochondrial small ribosomal subunit (mt-SSU) assembly factor (PubMed:36482135)., [UniProtKB, PubMed, PubMed, PubMed]; MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy. Publication Status: Online-Only, [RefSeq, PubMed]; Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy., [RefSeq, PubMed]; The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0QY72;O95510;O95511", "ec_number_list": [ { "id": "1.1.1.100", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.100", "type": "external" }, { "id": "1.3.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.39", "type": "external" }, { "id": "2.3.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.38", "type": "external" }, { "id": "2.3.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.39", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" }, { "id": "2.3.1.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.85", "type": "external" }, { "id": "3.1.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.14", "type": "external" }, { "id": "4.2.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.59", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0004314 [acyl-carrier-protein] S-malonyltransferase activity;GO:0140691 RNA folding chaperone;GO:0016740 transferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0006633 fatty acid biosynthetic process;GO:0180026 mitochondrial small ribosomal subunit assembly", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q8IVS2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25090-1", "uniprot_id": [ { "id": "FPR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P25090", "type": "external" } ], "mass": 38964.0, "length": 351, "protein_name": "N-formyl peptide receptor 2", "gene_name": "FPR2", "organism": "Human", "refseq_name": "N-formyl peptide receptor 2", "refseq_ac": [ { "id": "NP_001005738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005738", "type": "external" } ], "gene_names_uniprotkb": "FPR2; FPRH1; FPRL1; LXA4R", "gene_names_refseq": "ALXR; ALX; FMLP-R-II; FMLPX; FPR2A; FPR2; FPRH1; FPRH2; FPRL1; HM63; LXA4R", "protein_names_uniprotkb": "N-formyl peptide receptor 2; ALX; FMLP-R-I; FMLP-related receptor I; Formyl peptide receptor-like 1; HM63; LXA4 receptor; Lipoxin A4 receptor; RFP", "protein_names_refseq": "FMLP-R-I; FMLP-related receptor I; LXA4 receptor; N-formyl peptide receptor 2; RFP; formyl peptide receptor-like 1; lipoxin A4 receptor (formyl peptide receptor related)", "tax_id": 9606, "disease": "dentin caries (Disease Ontology:DOID:10461); candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:2358); (R-HSA-416476); (R-HSA-418594); (R-HSA-444473); (R-HSA-6798695)", "pathway_count": 5, "publication_count": 64, "publication_id_list": "10191087;10567430;10727532;10861009;11007482;11015615;11063592;11237011;11689470;11742120;11753430;12120503;1373134;1374236;1511907;15465011;15951850;1612600;16182515;16268778;16339447;16634148;16754659;16923326;18434541;18515384;18577758;18936096;1905813;2161213;23481700;23650620;24108355;2534964;25605714;25892735;2748346;28218747;2834384;2841328;30098280;3086311;31844290;32983136;33392160;35217703;35365641;35580925;36183323;36301030;36750693;36805961;37875162;40080544;7505609;7937899;8015379;8406495;8664309;8692836;9151906;9305846;9547339;9770463", "class_list": "", "function": "Downregulated formyl peptide receptor 2 expression in the epileptogenic foci of patients with focal cortical dysplasia type IIb and tuberous sclerosis complex., [RefSeq, PubMed]; Formyl peptide receptor 2 is an emerging modulator of inflammation in the liver. Review article, [RefSeq, PubMed]; Formyl-peptide receptor 2 signalling triggers aerobic metabolism of glucose through Nox2-dependent modulation of pyruvate dehydrogenase activity., [RefSeq, PubMed]; Pattern recognition G protein-coupled receptor (GPCR) that recognizes peptides with N-terminal formyl methionine, which are derived from invading pathogens or host mitochondria as pathogen or damage-associated molecular patterns (PAMPs and DAMPs) (PubMed:1374236, PubMed:25605714, PubMed:35217703). Preferentially recognizes longer peptides or peptides with specific sequences such as the phenol-soluble modulin (PSM) family of formylated peptide toxins produced by Staphylococcus aureus (PubMed:30098280). Ligand binding causes a conformation change that triggers signaling via G(i)/GNAI1 inhibiting adenylate cyclase activity, leading to decreased intracellular cAMP levels (PubMed:40080544). In addition, can recognize a variety of chemically distinct endogenous ligands including proteins and lipids besides formylpeptides and thereby plays multiple roles in inflammation. Acts as a receptor for the chemokine-like protein FAM19A5, mediating FAM19A5-stimulated macrophage chemotaxis and the inhibitory effect on TNFSF11/RANKL-induced osteoclast differentiation (By similarity). Acts also as a ceramide membrane receptor, and long-chain ceramides (C14 to C20) binding induces conformational changes that inhibits diet-induced adipose thermogenesis (PubMed:40080544). Participates in neuroprotection via interaction with humanin/MT-RNR2 and Amyloid-beta protein 42, product of APP (PubMed:11689470, PubMed:35365641). Differential signaling is also defined by receptor oligomerization state. Binding of ANXA1 to FPR2 homodimer elicits activation of p38 MAPKinase pathway leading to HSPB1/HSP27 phosphorylation and IL10 production in monocytes. Whereas agonistic activation of FPR1:FPR2 heterodimers signals a proapoptotic JNK pathway in neutrophils., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Resolution of inflammation via RvD1/FPR2 signaling mitigates Nox2 activation and ferroptosis of macrophages in experimental abdominal aortic aneurysms., [RefSeq, PubMed]; The G-Protein-Coupled Formyl Peptide Receptor 2 Promotes Endothelial-Mesenchymal Transition in Diabetic Retinopathy., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K3E2", "ec_number_list": [], "go_molecular_function": "GO:0004875 complement receptor activity;GO:0005124 scavenger receptor binding;GO:0050786 RAGE receptor binding;GO:0004930 G protein-coupled receptor activity;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0035579 specific granule membrane;GO:0070821 tertiary granule membrane", "go_biological_process": "GO:0097187 dentinogenesis;GO:0002430 complement receptor mediated signaling pathway;GO:0001774 microglial cell activation;GO:0006935 chemotaxis;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "P25090-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35575-1", "uniprot_id": [ { "id": "G6PC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P35575", "type": "external" } ], "mass": 40484.0, "length": 357, "protein_name": "Glucose-6-phosphatase catalytic subunit 1", "gene_name": "G6PC1", "organism": "Human", "refseq_name": "glucose-6-phosphatase catalytic subunit 1 isoform 1", "refseq_ac": [ { "id": "NP_000142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000142", "type": "external" } ], "gene_names_uniprotkb": "G6PC1; G6PC; G6PT", "gene_names_refseq": "G6PC1; G6PC; G6PT; G6Pase; GSD1a; GSD1", "protein_names_uniprotkb": "Glucose-6-phosphatase catalytic subunit 1; 3.1.3.9; G-6-Pase; G6Pase-alpha; G6Pase; Glucose-6-phosphatase alpha; Glucose-6-phosphatase", "protein_names_refseq": "G-6-Pase; G6Pase-alpha; glucose-6-phosphatase alpha; glucose-6-phosphatase catalytic subunit 1 isoform 1", "tax_id": 9606, "disease": "glycogen storage disease Ia (Disease Ontology:DOID:2749); hepatocellular carcinoma (Disease Ontology:DOID:684); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:2538); (R-HSA-3274531); (R-HSA-70263); (R-HSA-9615017); (R-HSA-9940951)", "pathway_count": 5, "publication_count": 113, "publication_id_list": "10070617;10094563;10102273;10204490;10217147;10229653;10358014;10447271;10480625;10612834;10714828;10738005;10748407;10874313;10913147;10960498;10970879;10978333;11058903;11058910;11237011;11506403;11779849;11851336;12093795;12239572;12373566;12437512;1278465;12965222;14718531;14722102;15151508;15316959;15542400;15710582;16493034;16783365;16840535;16959974;17646674;18337460;183598;18449899;18613815;19118303;19159218;21536589;2172641;21949678;23506893;24028821;24040102;24554700;25150861;25593309;27397612;27547294;27633282;27732854;27862975;29042441;29557506;29741879;30045876;30134174;31154438;31530632;3170585;31746185;31844290;3208766;3355497;35051231;35277194;3529090;36008597;36284347;37493001;37855366;38224261;4827367;5009693;6434534;6771269;7144574;7391027;7573034;7623438;7655466;7717389;7969165;8182131;8211187;8447317;8571957;8645161;8733042;8734807;9001800;9332655;9382095;9428641;9497333;9506659;9512513;9585002;9657976;9678974;9700612;9700613;9705299;9758626", "class_list": "glycogene", "function": "G6PC indicated poor prognosis in cervical cancer and promoted cervical carcinogenesis in vitro and in vivo. Publication Status: Online-Only, [RefSeq, PubMed]; G6PC1 and G6PC2 influence G6P flux but not HSD11B1 activity. Publication Status: Online-Only, [RefSeq, PubMed]; Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]., [RefSeq]; Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production in the terminal step of glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C-reactive protein in white British population., [RefSeq, PubMed]; The FOXO1/G6PC axis promotes gastric cancer progression and mediates 5-fluorouracil resistance by targeting the PI3K/AKT/mTOR signaling pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 3, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 525, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A1L4C0;B4E1C3;K7EL82", "ec_number_list": [ { "id": "3.1.3.94", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.94", "type": "external" }, { "id": "3.1.3.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.25", "type": "external" }, { "id": "3.1.3.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.9", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" } ], "go_molecular_function": "GO:0042301 phosphate ion binding;GO:0016773 phosphotransferase activity, alcohol group as acceptor;GO:0004346 glucose-6-phosphatase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0032869 cellular response to insulin stimulus;GO:0055088 lipid homeostasis;GO:0005977 glycogen metabolic process;GO:0032094 response to food;GO:0006094 gluconeogenesis", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "P35575-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000000.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6J4-1", "uniprot_id": [ { "id": "FGD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6J4", "type": "external" } ], "mass": 74892.0, "length": 655, "protein_name": "FYVE, RhoGEF and PH domain-containing protein 2", "gene_name": "FGD2", "organism": "Human", "refseq_name": "FYVE, RhoGEF and PH domain-containing protein 2", "refseq_ac": [ { "id": "NP_775829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775829", "type": "external" } ], "gene_names_uniprotkb": "FGD2; ZFYVE4", "gene_names_refseq": "FGD2; ZFYVE4", "protein_names_uniprotkb": "FYVE, RhoGEF and PH domain-containing protein 2; Zinc finger FYVE domain-containing protein 4", "protein_names_refseq": "FGD1 family, member 2; FLJ00276 protein; FYVE, RhoGEF and PH domain-containing protein 2; epididymis secretory sperm binding protein; zinc finger FYVE domain-containing protein 4", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 4H (Disease Ontology:DOID:0110192); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); breast cancer (Disease Ontology:DOID:1612); colon adenocarcinoma (Disease Ontology:DOID:234); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); X-linked Aarskog syndrome (Disease Ontology:DOID:6683)", "pathway": " (hsa:221472); (R-HSA-193648); (R-HSA-416482); (R-HSA-9013148)", "pathway_count": 4, "publication_count": 253, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;11007481;11058585;11085924;11149925;11214971;11237011;11283606;11294240;11306516;11313914;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11742120;11756498;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12195014;12221096;12351724;12432077;12433842;12464619;12515866;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;14673001;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15470142;15485661;15601624;15611138;15699075;15728722;15749160;15850391;15897194;15951850;16112081;16116428;16184169;16212495;16217026;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16923326;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17599059;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18218625;18363964;18374420;18426980;18577758;18653540;18786931;18835169;18838382;18929667;19212140;19605563;19934221;20679435;21148482;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22096251;22298643;22461490;22571869;22608513;22661716;22970203;23200924;23255595;23406282;23434736;23572525;23718289;24086303;24259668;24275569;24335996;24352656;24584464;24714562;24933155;24996924;25024229;25211221;25414122;25704760;25721503;25795300;25862245;25892735;25963737;26129894;26154972;26299518;26529257;26598554;26728094;26887924;27072905;27096001;27145964;27216196;27452731;27481945;27555588;27798618;27862975;28028151;28196833;28228285;28825699;28832583;28860633;29242379;29508533;29557506;29632046;29632711;30007591;30061681;30429286;30853411;31844290;31871319;32203420;32357974;32502341;32681954;32983136;33392160;33592498;33912179;34087483;34185709;34932366;35051231;35561310;35580925;36284347;37938771;7479768;7512369;7673236;7721814;7753201;7937899;8021274;8537347;8617235;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8994827;9013646;9113980;9268338;9305890;9308960;9405671;9438849;9490638;9497316;9520479;9659915;9670022;9796816;9829970;9843499;9846874", "class_list": "", "function": "Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Activates JNK1 via CDC42 but not RAC1. Binds to phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate (By similarity)., [UniProtKB]; Characterization of guanine nucleotide exchange activity of DH domain of human FGD2., [RefSeq, PubMed]; FGD2 has a role in leukocyte signaling and vesicle trafficking in cells specialized to present antigen in the immune system, [RefSeq, PubMed]; The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The encoded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system. [provided by RefSeq, Oct 2016]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5T8I1;Q6P6A8;Q6ZNL5;Q8IZ32;Q8N868;Q9H7M2", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding;GO:1901981 phosphatidylinositol phosphate binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0043087 regulation of GTPase activity;GO:0046847 filopodium assembly;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030036 actin cytoskeleton organization;GO:0007010 cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 25.4, "record_id": "Q7Z6J4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H334-1", "uniprot_id": [ { "id": "FOXP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H334", "type": "external" } ], "mass": 75317.0, "length": 677, "protein_name": "Forkhead box protein P1", "gene_name": "FOXP1", "organism": "Human", "refseq_name": "forkhead box protein P1 isoform b", "refseq_ac": [ { "id": "NP_001012523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012523", "type": "external" } ], "gene_names_uniprotkb": "FOXP1; HSPC215", "gene_names_refseq": "12CC4; FOXP1; HSPC215; MFH; QRF1; hFKH1B", "protein_names_uniprotkb": "Forkhead box protein P1; MFH; Mac-1-regulated forkhead", "protein_names_refseq": "fork head-related protein like B; forkhead box protein P1 isoform b; glutamine-rich factor 1; mac-1-regulated forkhead", "tax_id": 9606, "disease": "specific developmental disorder (Disease Ontology:DOID:0060038); complex cortical dysplasia with other brain malformations (Disease Ontology:DOID:0090131); intellectual disability-severe speech delay-mild dysmorphism syndrome (Disease Ontology:DOID:0111331); trichostrongyloidiasis (Disease Ontology:DOID:1255); Huntington's disease (Disease Ontology:DOID:12858); congenital heart disease (Disease Ontology:DOID:1682); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); esophagus adenocarcinoma (Disease Ontology:DOID:4914); schizophrenia (Disease Ontology:DOID:5419); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); peritonitis (Disease Ontology:DOID:8283); Barrett's esophagus (Disease Ontology:DOID:9206); hypoplastic left heart syndrome (Disease Ontology:DOID:9955)", "pathway": " (hsa:27086)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11237011;11751404;15286807;17344859;18220336;18347093;18452278;18640093;18799727;19352412;20848658;20950788;21416545;21924763;23186163;23481700;24023716;24275569;25027557;25267198;25576301;26154972;26647308;26992070;27846572;27862975;28218735;29237092;29351928;29463886;29493099;29557506;29632711;30250039;30620550;30833945;31154438;31492838;31844290;31848261;32157095;32387766;32502341;32574038;32891193;32938616;32938750;32983136;33592498;33691108;33936100;33968037;34171305;34509645;35051231;35132862;35138101;35254053;35289036;35580925;36010968;36284347;37818745;37938771;38594460;38608123;38665916;38945202;39534244;40596516", "class_list": "", "function": "A novel protein encoded by circFOXP1 enhances ferroptosis and inhibits tumor recurrence in intrahepatic cholangiocarcinoma., [RefSeq, PubMed]; Involved in transcriptional regulation in embryonic stem cells (ESCs). Stimulates expression of transcription factors that are required for pluripotency and decreases expression of differentiation-associated genes. Has distinct DNA-binding specifities as compared to the canonical form and preferentially binds DNA with the sequence 5'-CGATACAA-3' (or closely related sequences) (PubMed:21924763). Promotes ESC self-renewal and pluripotency (By similarity)., [UniProtKB, PubMed, UniProtKB]; NAT10/ac4C/FOXP1 Promotes Malignant Progression and Facilitates Immunosuppression by Reprogramming Glycolytic Metabolism in Cervical Cancer., [RefSeq, PubMed]; Spatiotemporal transcriptomic changes of human ovarian aging and the regulatory role of FOXP1., [RefSeq, PubMed]; The FOXP1 winged helix transcription factor is a novel candidate tumor suppressor gene on chromosome 3p., [RefSeq, PubMed]; The role of transcription factor FOXA1/C2/M1/O3/P1/Q1 in breast cancer., [RefSeq, PubMed]; This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional repressor (PubMed:18347093, PubMed:26647308). Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential (By similarity). Plays an important role in the specification and differentiation of lung epithelium. Acts cooperatively with FOXP4 to regulate lung secretory epithelial cell fate and regeneration by restricting the goblet cell lineage program; the function may involve regulation of AGR2. Essential transcriptional regulator of B-cell development. Involved in regulation of cardiac muscle cell proliferation. Involved in the columnar organization of spinal motor neurons. Promotes the formation of the lateral motor neuron column (LMC) and the preganglionic motor column (PGC) and is required for respective appropriate motor axon projections. The segment-appropriate generation of spinal cord motor columns requires cooperation with other Hox proteins. Can regulate PITX3 promoter activity; may promote midbrain identity in embryonic stem cell-derived dopamine neurons by regulating PITX3. Negatively regulates the differentiation of T follicular helper cells T(FH)s. Involved in maintenance of hair follicle stem cell quiescence; the function probably involves regulation of FGF18 (By similarity). Represses transcription of various pro-apoptotic genes and cooperates with NF-kappa B-signaling in promoting B-cell expansion by inhibition of caspase-dependent apoptosis (PubMed:25267198). Binds to CSF1R promoter elements and is involved in regulation of monocyte differentiation and macrophage functions; repression of CSF1R in monocytes seems to involve NCOR2 as corepressor (PubMed:15286807, PubMed:18347093, PubMed:18799727). Involved in endothelial cell proliferation, tube formation and migration indicative for a role in angiogenesis; the role in neovascularization seems to implicate suppression of SEMA5B (PubMed:24023716). Can negatively regulate androgen receptor signaling (PubMed:18640093). Acts as a transcriptional activator of the FBXL7 promoter; this activity is regulated by AURKA (PubMed:28218735)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 65, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 15, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A3QVP8;B3KV70;G5E9V8;Q8NAN6;Q9BSG9;Q9H332;Q9H333;Q9P0R1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0061052 negative regulation of cell growth involved in cardiac muscle cell development;GO:0030316 osteoclast differentiation;GO:1901300 positive regulation of hydrogen peroxide-mediated programmed cell death;GO:0032651 regulation of interleukin-1 beta production;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q9H334-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0R6-1", "uniprot_id": [ { "id": "GATA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0R6", "type": "external" } ], "mass": 57460.0, "length": 528, "protein_name": "Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial", "gene_name": "QRSL1", "organism": "Human", "refseq_name": "glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial", "refseq_ac": [ { "id": "NP_060762", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060762", "type": "external" } ], "gene_names_uniprotkb": "QRSL1", "gene_names_refseq": "COXPD40; GatA; QRSL1", "protein_names_uniprotkb": "Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial; 6.3.5.7; Glu-AdT subunit A; Glutaminyl-tRNA synthase-like protein 1", "protein_names_refseq": "QRSL1, glutaminyl-tRNA amidotransferase subunit A; glu-AdT subunit A; glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1; glutaminyl-tRNA synthase-like protein 1; glutamyl-tRNA(Gln) amidotransferase subunit A homolog; glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial; glutamyl-tRNA(Gln) amidotransferase, subunit A", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); combined oxidative phosphorylation deficiency 40 (Disease Ontology:DOID:0112117)", "pathway": " (hsa:55278)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11230166;11237011;18978678;19805282;20877624;23481700;26154972;26741492;26992070;27600516;28228285;28834231;29440775;29557506;29605689;30283131;30524438;31154438;31844290;32157095;32357974;32488085;32502341;33298915;33912179;34171305;34357683;34932366;35494241;35580925;36010968", "class_list": "", "function": "Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln)., [UniProtKB, PubMed, HAMAP]; Homozygous intronic variant (c.850-3A > G) in the QRSL1 was identified in a child with cardiomyopathy with early-onset brain disease., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VWJ4;Q9HA60;Q9NV19", "ec_number_list": [ { "id": "6.3.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.5.-", "type": "external" }, { "id": "6.3.5.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.5.7", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0050567 glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity;GO:0003824 catalytic activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0030956 glutamyl-tRNA(Gln) amidotransferase complex", "go_biological_process": "GO:0032543 mitochondrial translation;GO:0070681 glutaminyl-tRNAGln biosynthesis via transamidation", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9H0R6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WTR4-1", "uniprot_id": [ { "id": "GDE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WTR4", "type": "external" } ], "mass": 68586.0, "length": 605, "protein_name": "Glycerophosphodiester phosphodiesterase 2", "gene_name": "GDPD5", "organism": "Human", "refseq_name": "glycerophosphodiester phosphodiesterase domain-containing protein 5 isoform 1", "refseq_ac": [ { "id": "NP_110419", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110419", "type": "external" } ], "gene_names_uniprotkb": "GDPD5; GDE2; PP6037; PP9363; PRO3580", "gene_names_refseq": "GDE2; GDPD5; PP1665", "protein_names_uniprotkb": "Glycerophosphodiester phosphodiesterase 2; 3.1.4.-; 3.1.4.2; Glycerophosphocholine phosphodiesterase GDPD5; Glycerophosphodiester phosphodiesterase domain-containing protein 5", "protein_names_refseq": "glycerophosphocholine phosphodiesterase GDPD5; glycerophosphodiester phosphodiesterase 2; glycerophosphodiester phosphodiesterase domain-containing protein 5 isoform 1; glycerophosphodiester phosphodiesterase domain-containing protein 5; phosphoinositide phospholipase C GDPD5", "tax_id": 9606, "disease": "", "pathway": " (hsa:81544); (R-HSA-6814848)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10.1101/2023.09.13.557529;10760272;11237011;12514188;12576545;12975309;15044461;15498874;15788404;16303743;16472945;16799181;17015841;17578682;18086666;18667693;24190977;25528375;26024233;27693046;29557506;31020640;31530632;31932507;32350084;32488085;33592498;33731436;33797091;34357683;34932366;35051231;35154160;35251023;37074911;38575965;39272985", "class_list": "", "function": "Circ_0007142 downregulates miR-874-3p-mediated GDPD5 on colorectal cancer cells., [RefSeq, PubMed]; Ecto-phospholipase that cleaves the phosphodiester bond in the glycosylphosphatidylinositol (GPI) anchor of various proteins, releasing them from the plasma membrane into the extracellular space (PubMed:27693046, PubMed:31932507, PubMed:33731436). Cleaves the GPI-anchor of glypican-6/GPC6, thereby positively regulating neuron differentiation in a cell-autonomous manner (PubMed:27693046, PubMed:31932507). May also hydrolyze the GPI-anchor of glypican-3/GPC3 (PubMed:27693046). Cleaves the GPI-anchor of the serine protease inhibitor RECK, leading to its inactivation (PubMed:33731436). RECK inactivation inhibits NOTCH signaling in neighboring cells and induces differentiation of spinal motor neurons (By similarity). RECK inactivation can also regulate amyloid-beta precursor protein (APP) processing by ADAM10 (PubMed:33731436). May additionally catalyze the hydrolysis of the phosphodiester bond in sn-glycerol 3-phosphocholine, potentially contributing to osmotic regulation of cellular glycerophosphocholine levels (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; GDE2-RECK controls ADAM10 alpha-secretase-mediated cleavage of amyloid precursor protein., [RefSeq, PubMed]; GDPD5 was widely expressed in human tissues and the expression levels in kidney and prostate were relatively low, [RefSeq, PubMed]; Loss of GDE2 leads to complex behavioral changes including memory impairment. Publication Status: Online-Only, [RefSeq, PubMed]; The Six-Transmembrane Enzyme GDE2 Is Required for the Release of Molecularly Distinct Small Extracellular Vesicles from Neurons. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q49AQ5;Q6UX76;Q7Z4S0;Q8N781;Q8NCB7;Q8TB77", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.2", "type": "external" }, { "id": "3.1.4.43", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.43", "type": "external" } ], "go_molecular_function": "GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0008889 glycerophosphodiester phosphodiesterase activity;GO:0047389 glycerophosphocholine phosphodiesterase activity;GO:0008081 phosphoric diester hydrolase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030426 growth cone;GO:0048471 perinuclear region of cytoplasm;GO:0012505 endomembrane system;GO:0016020 membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0007399 nervous system development;GO:0045666 positive regulation of neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q8WTR4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NY28-1", "uniprot_id": [ { "id": "GALT8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NY28", "type": "external" } ], "mass": 72851.0, "length": 637, "protein_name": "Probable polypeptide N-acetylgalactosaminyltransferase 8", "gene_name": "GALNT8", "organism": "Human", "refseq_name": "probable polypeptide N-acetylgalactosaminyltransferase 8", "refseq_ac": [ { "id": "NP_059113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059113", "type": "external" } ], "gene_names_uniprotkb": "GALNT8", "gene_names_refseq": "GALNAC-T8; GALNT8", "protein_names_uniprotkb": "Probable polypeptide N-acetylgalactosaminyltransferase 8; 2.4.1.41; GalNAc-T8; Polypeptide GalNAc transferase 8; Protein-UDP acetylgalactosaminyltransferase 8; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 8; pp-GaNTase 8", "protein_names_refseq": "GalNAc transferase 8; UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 8; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8); polypeptide GalNAc transferase 8; pp-GaNTase 8; probable polypeptide N-acetylgalactosaminyltransferase 8; protein-UDP acetylgalactosaminyltransferase 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:26290); (R-HSA-913709)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10330415;10430883;10753916;10767557;11042166;11237011;11283017;11304796;11821425;12438318;12855678;1329093;15486459;15489334;15560372;15620693;17113861;18537974;20800603;22183981;23034592;24038392;24643043;29557506;29741668;29789417;31154438;34185709;34743989;35051231;35220009;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Dynamic tuning of chromatin co-drives the activation of a gene cluster that includes the lncRNA GAU1 and the protein-coding gene GALNT8, thereby inducing tumorigenesis., [RefSeq, PubMed]; Expression of GALNT8 and O-glycosylation of BMP receptor 1A suppress breast cancer cell proliferation by upregulating ERalpha levels., [RefSeq, PubMed]; GALNT8 suppresses breast cancer cell metastasis potential by regulating EGFR O-GalNAcylation., [RefSeq, PubMed]; GALNT8 variants were associated with treatment outcome independently of HCV genotype., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Probably catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor., [UniProtKB, UniProtKB]; This enzyme initiates O-glycan synthesis in IgA1 the hinge region., [RefSeq, PubMed]; This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. [provided by RefSeq, Jul 2008]., [RefSeq]; We integrated different computational tools to perform the in silico analysis of clinically significant mutations (nsSNPs/single amino acid change) at both functional and structural levels, found in human GALNT3, GALNT8, GALNT12, and GALNT13 genes. Erratum:[J Cell Biochem. 2017 Oct;118(10):3520. doi: 10.1002/jcb.25675. PMID: 28792674], [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 935, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RU02", "ec_number_list": [ { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9NY28-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T7V8-1", "uniprot_id": [ { "id": "GORAB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T7V8", "type": "external" } ], "mass": 42266.0, "length": 369, "protein_name": "RAB6-interacting golgin", "gene_name": "GORAB", "organism": "Human", "refseq_name": "RAB6-interacting golgin isoform c", "refseq_ac": [ { "id": "NP_001307181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307181", "type": "external" } ], "gene_names_uniprotkb": "GORAB; NTKLBP1; SCYL1BP1", "gene_names_refseq": "GORAB; GO; NTKLBP1; SCYL1BP1", "protein_names_uniprotkb": "RAB6-interacting golgin; N-terminal kinase-like-binding protein 1; NTKL-BP1; NTKL-binding protein 1; SCY1-like 1-binding protein 1; SCYL1-BP1; SCYL1-binding protein 1; hNTKL-BP1", "protein_names_refseq": "N-terminal kinase-like-binding protein 1; NTKL-binding protein 1; RAB6-interacting golgin isoform c; RAB6-interacting golgin; SCY1-like 1-binding protein 1; SCYL1-binding protein 1", "tax_id": 9606, "disease": "geroderma osteodysplasticum (Disease Ontology:DOID:0111266)", "pathway": " (hsa:92344)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;15781263;18997784;19681135;19951712;26000619;26375851;27604556;27920218;28807865;30631079;32157095;33968037", "class_list": "", "function": "Assessment of interaction with hPirh2, [RefSeq, PubMed]; In the present study a de novo deletion on 1q23.3-q24.2 combined with a GORAB missense mutation leads to a distinctive phenotype with features from Gerodermia osteodysplastica and also short stature, cutis laxa, frequent fractures, facial dysmorphism, cup-shaped ears and intellectual disability, [RefSeq, PubMed]; Loss of RAB6-interacting golgin (GORAB) causes impairment of coat protein complex I (COPI)-mediated retrieval of trans-Golgi enzymes, resulting in a deficit in glycosylation of secretory cargo proteins. Publication Status: Online-Only, [RefSeq, PubMed]; Novel compound heterozygous nonsense mutations were identified in the GORAB gene of a geroderma osteodysplastica patient., [RefSeq, PubMed]; Plays a role in the organization and function of the Golgi apparatus. Involved in protein post-translational modification, particularly glycosylation of extracellular matrix proteins. Functions at the trans-Golgi by cooperating with SCYL1 to promote COPI coat assembly into discrete functional domains, supporting Golgi organization and trafficking., [UniProtKB, PubMed]; Study demonstrates that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts., [RefSeq, PubMed]; Study supplements the limited available data on SCYL1BP1 and further establishes deficiency of this recently described golgin as the only known cause of geroderma osteodysplastica, [RefSeq, PubMed]; The chemotaxis signal pathway induced by chemokines CKbeta8 and CKbeta8-1 is mediated via the Gi/Go protein, phospholipase C (PLC) and protein kinase C delta (PKC delta)., [RefSeq, PubMed]; This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q49A22;Q6P1P9;Q9HAE6;Q9Y350", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus", "go_biological_process": "GO:1905515 non-motile cilium assembly", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q5T7V8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZMI3-1", "uniprot_id": [ { "id": "GLDN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZMI3", "type": "external" } ], "mass": 58957.0, "length": 551, "protein_name": "Gliomedin", "gene_name": "GLDN", "organism": "Human", "refseq_name": "gliomedin isoform 2", "refseq_ac": [ { "id": "NP_001317226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317226", "type": "external" } ], "gene_names_uniprotkb": "GLDN; COLM; PRO34011", "gene_names_refseq": "CLOM; COLM; CRG-L2; CRGL2; GLDN; LCCS11; UNC-112; UNC-122", "protein_names_uniprotkb": "Gliomedin", "protein_names_refseq": "collomin; colmedin; gliomedin isoform 2", "tax_id": 9606, "disease": "lethal congenital contracture syndrome (Disease Ontology:DOID:0060558); lethal congenital contracture syndrome 11 (Disease Ontology:DOID:0061267)", "pathway": " (hsa:342035)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;12975309;16039564;27616481;28726266;29391424;29557506;29786170;30429286;31154438;32812332;32938616;33592498;34087483;35051231;35580925;36010968", "class_list": "", "function": "Data indicate that mutations of GLDN or CNTNAP1 (MIM: 616286), encoding essential components of the nodes of Ranvier and paranodes, respectively, lead to inherited nodopathies, a distinct disease entity among peripheral neuropathies, [RefSeq, PubMed]; Ligand for NRCAM and NFASC/neurofascin that plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Mediates interaction between Schwann cell microvilli and axons via its interactions with NRCAM and NFASC. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with NRCAM, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier., [UniProtKB, UniProtKB]; Our findings expand the genotypic and phenotypic spectrum of LCCS11 and demonstrate that the condition may not necessarily be lethal in the neonatal period., [RefSeq, PubMed]; The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence., [RefSeq, PubMed]; This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy. [provided by RefSeq, May 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 8686, "biomarker_type": "", "glycan_count": 5, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q6UXZ7;Q7Z359", "ec_number_list": [], "go_molecular_function": "GO:0086080 protein binding involved in heterotypic cell-cell adhesion", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030424 axon;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q6ZMI3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PY5-1", "uniprot_id": [ { "id": "FMNL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PY5", "type": "external" } ], "mass": 123321.0, "length": 1086, "protein_name": "Formin-like protein 2", "gene_name": "FMNL2", "organism": "Human", "refseq_name": "formin-like protein 2", "refseq_ac": [ { "id": "NP_443137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443137", "type": "external" } ], "gene_names_uniprotkb": "FMNL2; FHOD2; KIAA1902", "gene_names_refseq": "FHOD2; FMNL2", "protein_names_uniprotkb": "Formin-like protein 2; Formin homology 2 domain-containing protein 2", "protein_names_refseq": "formin homology 2 domain containing 2; formin homology 2 domain-containing protein 2; formin-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:114793); (R-HSA-5663220); (R-HSA-9013106); (R-HSA-9013148)", "pathway_count": 4, "publication_count": 318, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10600384;10678165;10699171;10699464;10724160;10873802;10958683;11007481;11058585;11085924;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12429848;12432077;12464619;12531887;12547822;12577064;12650940;12684686;12732141;12773384;12805219;12857875;12860998;12877655;12907671;14506234;14512443;15006353;15023524;15064355;15085137;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15485661;15507212;15601624;15611138;15728722;15850391;15864301;15866170;15897194;15944396;16112081;16116428;16184169;16217026;16292343;16439214;16519628;16622419;16622420;16630611;16714282;16776779;16777452;16777849;16862148;16896804;16943183;16968698;17030981;17064668;17077126;17129783;17145773;17196961;17198702;17214551;17244649;1737036;17599059;17702745;17765681;17804252;17932950;17976533;18001770;18045877;18056264;18097444;18218625;18363964;18426980;18653540;18665374;18786931;18835169;18838382;18923426;18929667;19350017;19401682;19605563;19713215;19815554;19934221;20030946;20101212;20213681;20400958;20591975;20679435;21148482;21397845;21454492;21542010;21565175;21576392;21613211;21685891;21757538;21834987;21865595;21868368;21989057;22004470;22094460;22096251;22275430;22298643;22461490;22544926;22571869;22608513;22673745;22790947;22911862;22970203;22992742;23186163;23200924;23222643;23255595;23406282;23434736;23481700;23572525;23718289;23801653;24086303;24128008;24259668;24335996;24352656;24584464;24715725;24914801;24933155;24996924;25024229;25211221;25418920;25425145;25645385;25704760;25721503;25795300;25862245;25963737;26129894;26154972;26256210;26299518;26375851;26529257;26598554;26887924;26992070;27096001;27145964;27216196;27481945;27555588;27798618;27862975;27920218;28028151;28196833;28218747;28228285;28514659;28825699;28832583;28860633;28904123;29237092;29242379;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29930204;30061681;30315122;30379171;30429286;30853411;31154438;31217245;31751425;31844290;31848261;31871319;31937595;32157095;32203420;32357974;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34171305;34211107;34405274;34561969;34932366;35051231;35154160;35561310;35580925;35608697;35772391;36010968;36241641;36335129;36979484;37938771;38071036;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8543060;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8994827;9013646;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9649308;9659915;9670022;9792683;9829970;9843499;9846874", "class_list": "", "function": "A novel regulatory and functional interaction between RhoC and FMNL2 for modulating cell shape and invasiveness and provide mechanistic insight into RhoC-specific signalling events., [RefSeq, PubMed]; FMNL2 may play an important role in the metastasis of CRC and may be a useful marker for metastasis of CRC., [RefSeq, PubMed]; FMNL2 regulates gliovascular interactions and is associated with vascular risk factors and cerebrovascular pathology in Alzheimer's disease., [RefSeq, PubMed]; Formin-Like 2 Is a Potential Biomarker of Poor Prognosis in Nasopharyngeal Carcinoma., [RefSeq, PubMed]; LINC00839 promotes malignancy of liver cancer via binding FMNL2 under hypoxia. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in actin cytoskeleton dynamics and regulation of cell shape (PubMed:21834987)., [UniProtKB, PubMed]; Spatiotemporal Regulation of FMNL2 by N-Terminal Myristoylation and C-Terminal Phosphorylation Drives Rapid Filopodia Formation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]., [RefSeq]; [Effect of miR-22 Targeting FMNL2 on Cell Migration and Apoptosis in Childhood Acute Myeloid Leukemia]., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RZH5;Q14CC9;Q4ZG52;Q8N3E0", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0045296 cadherin binding;GO:0031267 small GTPase binding;GO:0003779 actin binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0016477 cell migration;GO:0008360 regulation of cell shape;GO:0030866 cortical actin cytoskeleton organization;GO:0030036 actin cytoskeleton organization;GO:0022604 regulation of cell morphogenesis", "synthesized_glycan_count": 0, "hit_score": 32.4, "record_id": "Q96PY5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N158-1", "uniprot_id": [ { "id": "GPC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N158", "type": "external" } ], "mass": 62830.0, "length": 579, "protein_name": "Glypican-2", "gene_name": "GPC2", "organism": "Human", "refseq_name": "glypican-2 precursor", "refseq_ac": [ { "id": "NP_689955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689955", "type": "external" } ], "gene_names_uniprotkb": "GPC2", "gene_names_refseq": "GPC2", "protein_names_uniprotkb": "Glypican-2", "protein_names_refseq": "cerebroglycan proteoglycan; glypican proteoglycan 2, cerebroglycan proteoglycan; glypican-2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:221914); (R-HSA-1971475); (R-HSA-2022928); (R-HSA-2024096); (R-HSA-3560783); (R-HSA-3560801); (R-HSA-3656237); (R-HSA-3656253); (R-HSA-4420332); (R-HSA-9694614); (R-HSA-975634); (R-HSA-9769735); (R-HSA-9769739); (R-HSA-9820960); (R-HSA-9833110); (R-HSA-9918481); (R-HSA-9918485)", "pathway_count": 17, "publication_count": 283, "publication_id_list": "10026158;10052934;10318803;10446189;10466419;10473568;10480354;10506123;10639137;10644753;10677367;10716625;10769148;10842173;11027606;11035113;11060341;11087757;11099377;11169766;11181758;11237011;11238108;11274177;11274389;11279150;11337487;11390981;11391482;11477410;11551958;11607032;11747608;11833835;11877387;12052963;12138164;12213822;12441129;12492399;12522689;12682107;1279089;12907439;12927802;14519844;14762106;14976261;14982929;14993226;15010527;15082721;15084397;15098107;15140961;15163706;15211654;15294915;15358783;1542003;15461586;15474033;15507651;15583000;15607426;15647514;15838506;16151907;16161994;1618828;16200213;16343444;16619025;16939223;16959974;16960811;16962401;17033958;17194707;17506785;17525477;17598008;17635713;17644776;18087047;18266465;18295589;18420935;18460466;18507396;1856611;1874730;19014918;1902833;19139408;19297154;1930190;19344451;1946389;19473117;2040636;20410276;20427285;20554947;20560209;20560210;20576607;20650889;20691685;21068237;21106934;2122463;21325420;21700882;21763480;21851338;21911577;21932952;22090124;22144186;2248955;22496216;22618708;22652793;2271516;22786881;22810237;22816037;23006890;23084921;23105391;23621622;23656592;23658209;23664117;23664118;23683607;2384594;24074594;24106281;24227843;24425863;24443026;24554904;2538457;25521717;25713144;25854864;25855704;26056282;26092250;26212330;26311884;26468529;26953343;2704749;27108190;271951;27277342;27550352;27832191;2793848;28132690;28148688;28440309;28898695;29419409;29427996;29437578;29557506;29610346;29742433;29902443;30471091;3052293;30599162;30918026;31003762;31262782;31439947;31530632;31720911;32125455;32142651;32179150;32350084;32362314;32512386;32532959;32653452;32703818;3275472;32938616;32970989;32995803;33082293;33082294;33159882;33177556;33298900;33493182;33493263;33494095;33554856;33774649;33912179;33968037;34023935;34159616;34179075;34195677;34235261;34235568;34324210;34357683;34431042;34510494;34542788;34561887;34611326;34732583;34782609;34929169;35051231;35215846;35251023;3527261;35343766;35345673;35676258;36102648;36920409;36951953;3714052;3744129;37726033;37925034;3863104;39014225;3942763;4345202;5057882;5675424;6323392;6420172;6496574;6961410;6980899;7493035;7499257;7550340;7601448;7683668;7711731;8017323;8144529;8384721;8578528;8598903;8639673;8639781;8728311;8776591;8782816;8894688;8981950;9218519;9285796;9326317;9346953;9459334;9463333;9469622;9506957;9535912;9620772;9888420;9892646;9915799;9920938;9925661;9931503;9988767", "class_list": "glycogene", "function": "Association between GPC2 polymorphisms and neuroblastoma risk in Chinese children., [RefSeq, PubMed]; CAR T cells targeting tumor-associated exons of glypican 2 regress neuroblastoma in mice. Publication Status: Online-Only, [RefSeq, PubMed]; Cell surface proteoglycan that bears heparan sulfate. May fulfill a function related to the motile behaviors of developing neurons (By similarity)., [UniProtKB]; Cell surface proteoglycan., [UniProtKB, UniProtKB]; GPC2 Is a Potential Diagnostic, Immunological, and Prognostic Biomarker in Pan-Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; GPC2 promotes prostate cancer progression via MDK-mediated activation of PI3K/AKT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Gpc2 is enriched in neurogenic regions of the adult brain. Its expression is increased by physiological stimuli that increase hippocampal neurogenesis and decreased in transgenic models in which neurogenesis is selectively ablated. Changes in neurogenesis also result in changes in Gpc2 protein level in cerebrospinal fluid (CSF). Publication Status: Online-Only, [RefSeq, PubMed]; These findings validate GPC2 as a non-mutated neuroblastoma oncoprotein and candidate immunotherapeutic target., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 0, "predicted_o_glycosites": 5, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 732, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A4D2A7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0010976 positive regulation of neuron projection development;GO:0016477 cell migration;GO:0030182 neuron differentiation;GO:0009966 regulation of signal transduction;GO:0007224 smoothened signaling pathway", "synthesized_glycan_count": 0, "hit_score": 28.4, "record_id": "Q8N158-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3F9-1", "uniprot_id": [ { "id": "G137C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3F9", "type": "external" } ], "mass": 47075.0, "length": 429, "protein_name": "Integral membrane protein GPR137C", "gene_name": "GPR137C", "organism": "Human", "refseq_name": "integral membrane protein GPR137C isoform 2", "refseq_ac": [ { "id": "NP_001093122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093122", "type": "external" } ], "gene_names_uniprotkb": "GPR137C; TM7SF1L2", "gene_names_refseq": "GPR137C; TM7SF1L2", "protein_names_uniprotkb": "Integral membrane protein GPR137C; Transmembrane 7 superfamily member 1-like 2 protein", "protein_names_refseq": "G protein-coupled receptor TM7SF1L2; integral membrane protein GPR137C isoform 2; integral membrane protein GPR137C; transmembrane 7 superfamily member 1-like 2 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:283554)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12679517;25645385;29557506;30192525;31036939;34357683;35051231", "class_list": "", "function": "Lysosomal integral membrane protein that may regulate MTORC1 complex translocation to lysosomes., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86SM2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005765 lysosomal membrane", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8N3F9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L513-1", "uniprot_id": [ { "id": "FCRLA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L513", "type": "external" } ], "mass": 38927.0, "length": 359, "protein_name": "Fc receptor-like A", "gene_name": "FCRLA", "organism": "Human", "refseq_name": "Fc receptor-like A isoform 1 precursor", "refseq_ac": [ { "id": "NP_001171795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171795", "type": "external" } ], "gene_names_uniprotkb": "FCRLA; FCRL1; FCRLM1; FCRL; FCRX; FREB; PRO329", "gene_names_refseq": "FCRLA; FCRLM1; FCRLX; FCRLb; FCRLc1; FCRLc2; FCRLd; FCRLe; FCRL; FCRX; FREB", "protein_names_uniprotkb": "Fc receptor-like A; Fc receptor homolog expressed in B-cells; Fc receptor-like and mucin-like protein 1; Fc receptor-like protein; Fc receptor-related protein X; FcRX", "protein_names_refseq": "Fc receptor homolog expressed in B cells (FREB); Fc receptor related protein X; Fc receptor-like A isoform 1 precursor; Fc receptor-like and mucin-like 1; fc receptor homolog expressed in B-cells; fc receptor-like and mucin-like protein 1; fc receptor-like protein; fc receptor-related protein X", "tax_id": 9606, "disease": "", "pathway": " (hsa:84824)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "10.1038/emboj.2013.79;11237011;11754007;11891275;12202404;12975309;15340161;15551350;20668221;21149418;23481700;23584533;24366607;24714562;24715725;25645385;25880248;26375851;26728094;26758079;26811146;26992070;27397612;27600516;27846572;27920218;28218747;28228285;28446606;28832583;28834231;28871256;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;31092671;31217245;31530632;31611695;31844290;31848261;32157095;32350084;32357974;32488085;32502341;32908921;32983136;33091337;33298915;33691108;33717175;33912179;33936100;34357683;34561969;34932366;35051231;35154160;35251023;35561310;35580925;39108036", "class_list": "", "function": "Analysis of human cell lines has confirmed that FcRLA is not secreted but is maintained as an intracellular protein in B cells where it interacts with immunoglobulins., [RefSeq, PubMed]; Development and Validation of the B Cell-Associated Fc Receptor-like Molecule-Based Prognostic Signature in Skin Cutaneous Melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; FCRL/FREB may function in melanocytes and melanoma and may be useful for development of diagnostic methods for various pigment disorders and immunotherapy of melanoma., [RefSeq, PubMed]; Fc receptor-like A promotes malignant behavior in renal cell carcinoma and correlates with tumor immune infiltration., [RefSeq, PubMed]; May be implicated in B-cell differentiation and lymphomagenesis., [UniProtKB, PubMed, PubMed]; The studies reported here demonstrate that FCRLA is more broadly expressed among human B lineage cells than originally reported; it is found at significant levels in resting blood B cells and at varying levels in all B-cell subsets in tonsil., [RefSeq, PubMed]; This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0N0M1;A6NC03;A6NL20;F5H720;F8W743;G3V1J2;Q5VXA1;Q5VXA2;Q5VXA3;Q5VXA4;Q5VXB0;Q5VXB1;Q8NEW4;Q8WXH3;Q96PC6;Q96PJ0;Q96PJ1;Q96PJ2;Q96PJ4;Q9BR57", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q7L513-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06028-1", "uniprot_id": [ { "id": "GLPB_HUMAN", "url": "https://www.uniprot.org/uniprot/P06028", "type": "external" } ], "mass": 9782.0, "length": 91, "protein_name": "Glycophorin-B", "gene_name": "GYPB", "organism": "Human", "refseq_name": "glycophorin-B isoform 2", "refseq_ac": [ { "id": "NP_001291311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291311", "type": "external" } ], "gene_names_uniprotkb": "GYPB; GPB", "gene_names_refseq": "CD235b; GPB; GYPB; GYP; MNS; PAS-3; SS", "protein_names_uniprotkb": "Glycophorin-B; PAS-3; SS-active sialoglycoprotein; Sialoglycoprotein delta", "protein_names_refseq": "SS-active sialoglycoprotein; Ss blood group; Ss sialoglycoprotein; blood group system MNSs, Mur-like; blood group system MNSs, St(a) type E; blood group system MNSs, St(a) type F; glycophorin B blood group antigen; glycophorin B, blood group system Ss, S, Mit+; glycophorin Hop; glycophorin-B isoform 2; glycophorin-B; hybrid glycophorin Kip; sialoglycoprotein delta", "tax_id": 9606, "disease": "malaria (Disease Ontology:DOID:12365); obsolete blood group, ss (MONDO:MONDO:0020620)", "pathway": " (hsa:2994); (R-HSA-202733)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "10.1038/emboj.2013.79;10606205;10764623;11207550;11237011;11239234;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12782713;1421410;14529530;14615387;15000751;15528364;15681301;15721307;1591491;1611092;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;19279206;2016325;21193412;21659548;22171320;23584533;23945545;24043627;24764293;2538457;2734312;29557506;30459171;31611695;3196288;32350084;3305497;3477806;35138035;35138639;35251023;3571235;35835865;3595615;3624241;37921239;38158881;468991;7509040;7521878;7681597;8163559;8166770;8314844;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "Characterization of alternatively spliced transcript variants of glycophorin A and glycophorin B genes in Chinese blood donors., [RefSeq, PubMed]; Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane., [UniProtKB, PubMed]; Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]; Joint efficacy of the three biomarkers SNCA, GYPB and HBG1 for atrial fibrillation and stroke: Analysis via the support vector machine neural network., [RefSeq, PubMed]; The study of variant s antigen expression revealing a novel c.160C>T (p.Arg54Cys) variant on GYPB*s allele associated with partial s phenotype., [RefSeq, PubMed]; Uncommon S-s-U+ phenotype encoded by two novel GYPB alleles., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B8Q174;E2QBW7;Q0VAF4;Q58HE9;Q58HF0;Q58HF1;Q9UCH7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0170014 ankyrin-1 complex;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "P06028-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17858-1", "uniprot_id": [ { "id": "PFKAL_HUMAN", "url": "https://www.uniprot.org/uniprot/P17858", "type": "external" } ], "mass": 85018.0, "length": 780, "protein_name": "ATP-dependent 6-phosphofructokinase, liver type", "gene_name": "PFKL", "organism": "Human", "refseq_name": "ATP-dependent 6-phosphofructokinase, liver type isoform a", "refseq_ac": [ { "id": "NP_001002021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002021", "type": "external" } ], "gene_names_uniprotkb": "PFKL", "gene_names_refseq": "ATP-PFK; PFK-B; PFK-L; PFKL", "protein_names_uniprotkb": "ATP-dependent 6-phosphofructokinase, liver type; 2.7.1.11; 6-phosphofructokinase type B; ATP-PFK; PFK-B; PFK-L; Phosphofructo-1-kinase isozyme B; Phosphohexokinase", "protein_names_refseq": "6-phosphofructokinase type B; 6-phosphofructokinase, liver type; ATP-dependent 6-phosphofructokinase, liver type isoform a; ATP-dependent 6-phosphofructokinase, liver type; liver-type 1-phosphofructokinase; phosphofructo-1-kinase isozyme B; phosphohexokinase", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); glycogen storage disease (Disease Ontology:DOID:2747)", "pathway": " (hsa:5211); (R-HSA-6798695); (R-HSA-70171)", "pathway_count": 3, "publication_count": 140, "publication_id_list": "10.1101/2023.09.13.557529;10714828;11237011;11371164;11506403;11780755;12616532;12665801;1278465;12965206;13538944;15592455;15710582;16511037;17804405;183598;18669648;18691976;1871135;18910716;18910717;18927083;20068231;20166139;2139864;22219026;22223895;22923583;23168256;23446454;23481700;23650620;2462567;2533063;25418920;25576301;25648650;25880248;26154972;26929215;26992070;27090790;27452731;27600516;27846572;27862975;27920218;2793178;28063628;28218747;28228285;2846554;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29557506;2960695;29632046;29632711;29671580;29769354;29786170;30315122;30410026;30429286;30517626;30524438;30779550;31092671;31217245;3170585;31844290;3208766;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33214551;33298915;33392160;3355497;33592498;33717175;33912179;33968037;34019948;34087483;34171305;34405274;34433824;3453121;34561969;34725712;34782236;34932366;35051231;35138101;35251023;3529090;35580925;36010968;36284347;37074911;37938771;38253038;38287371;38388430;39183237;4413246;4555506;4827367;5009693;5687724;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7717389;7825568;7989588;8117307;8325892;8447317;8692836;8786021;9438414;9493266", "class_list": "glycogene", "function": "Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis (PubMed:22923583). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by controlling cellular NADPH biosynthesis and NADPH oxidase-derived reactive oxygen species. Upon macrophage activation, drives the metabolic switch toward glycolysis, thus preventing glucose turnover that produces NADPH via pentose phosphate pathway (By similarity)., [UniProtKB, HAMAP, UniProtKB, PubMed]; EGR1 suppresses HCC growth and aerobic glycolysis by transcriptionally downregulating PFKL. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis for allosteric regulation of human phosphofructokinase-1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]., [RefSeq]; Ubiquitin-specific protease 14 targets PFKL-mediated glycolysis to promote the proliferation and migration of oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 946, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q96A64;Q96IH4;Q9BR91", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "2.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.7", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "1.13.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-", "type": "external" }, { "id": "1.13.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.34", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "1.11.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.7", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "3.4.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.1", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { 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"id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0070095 fructose-6-phosphate binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0019900 kinase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0016020 membrane;GO:0034774 secretory granule lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0009749 response to glucose;GO:0006096 glycolytic process;GO:0030388 fructose 1,6-bisphosphate metabolic process;GO:0061621 canonical glycolysis;GO:0006002 fructose 6-phosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "P17858-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYW8-1", "uniprot_id": [ { "id": "RBAK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYW8", "type": "external" } ], "mass": 82995.0, "length": 714, "protein_name": "RB-associated KRAB zinc finger protein", "gene_name": "RBAK", "organism": "Human", "refseq_name": "RB-associated KRAB zinc finger protein", "refseq_ac": [ { "id": "NP_001191385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191385", "type": "external" } ], "gene_names_uniprotkb": "RBAK; ZNF769", "gene_names_refseq": "RBAK; ZNF769", "protein_names_uniprotkb": "RB-associated KRAB zinc finger protein; RB-associated KRAB repressor; Zinc finger protein 769; hRBaK", "protein_names_refseq": "RB-associated KRAB repressor; RB-associated KRAB zinc finger protein; zinc finger protein 769", "tax_id": 9606, "disease": "", "pathway": " (hsa:57786)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "10.1101/2023.09.13.557529;10702291;12070015;14664718;17121540;18307725;20466629;22299025;25218447;25755297;25892735;28514659;28832583;28904123;29493099;29769354;30315122;30410026;30429286;30524438;30779550;30833945;31844290;31848261;32157095;32350084;32357974;32897882;33141586;33321125;33592498;33717175;33912179;33968037;33981976;34087483;34171305;35051231;35251023;35318648;35561310;36241641;36284347;8889548", "class_list": "", "function": "A genome-wide association study for highly sensitive cardiac troponin T levels identified a novel genetic variation near a RBAK-ZNF890P locus in the Japanese general population., [RefSeq, PubMed]; May repress E2F-dependent transcription. May promote AR-dependent transcription., [UniProtKB, PubMed, PubMed]; Novel transcription factors identified in human CD34 antigen-positive hematopoietic stem cells., [RefSeq, PubMed]; RBaK interacts with the androgen receptor and increases its transcriptional activity., [RefSeq, PubMed]; Studies indicate that data on the regulatory functions of the KRAB-ZFP in embryonic development and tumorgenesis will benefit the understanding of biological roles of KRAB-ZFP in different physiological and pathological states. Review article, [RefSeq, PubMed]; Study found no evidence of mutations in the coding sequence and splice sites of RBaK in association with familial hyperaldosteronism type II, [RefSeq, PubMed]; The role of RBaK, PMS2, and GNA12 in the inheritance of familial hyperaldosteronism type II were studied., [RefSeq, PubMed]; This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif. Read-through transcripts that include exons from the downstream gene LOC389458 are expressed from this locus. [provided by RefSeq, Mar 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NDF2;A8KAK4;B2RN44;B9EGS1;F8W6M7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9NYW8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08579-1", "uniprot_id": [ { "id": "RU2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P08579", "type": "external" } ], "mass": 25486.0, "length": 225, "protein_name": "U2 small nuclear ribonucleoprotein B''", "gene_name": "SNRPB2", "organism": "Human", "refseq_name": "U2 small nuclear ribonucleoprotein B''", "refseq_ac": [ { "id": "NP_003083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003083", "type": "external" } ], "gene_names_uniprotkb": "SNRPB2", "gene_names_refseq": "Msl1; SNRPB2; U2B''", "protein_names_uniprotkb": "U2 small nuclear ribonucleoprotein B''; U2 snRNP B''", "protein_names_refseq": "U2 small nuclear ribonucleoprotein B''; U2 snRNP B''; small nuclear ribonucleoprotein polypeptide B", "tax_id": 9606, "disease": "disease of cellular proliferation (Disease Ontology:DOID:14566); germ cell cancer (Disease Ontology:DOID:2994); connective tissue disease (Disease Ontology:DOID:65)", "pathway": " (hsa:6629); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 5, "publication_count": 196, "publication_id_list": "10.1101/2023.09.13.557529;10199952;10669729;10882114;11014198;11060040;11101529;11233976;11747608;11991638;12084575;12176931;12411573;12414731;12477934;12682017;14519844;14625303;14654843;14713954;14749727;14762106;15037765;15084397;15565158;15592455;15647753;16263726;16314458;16372014;16809785;16959974;17095540;17128255;17332742;17433364;17606899;17717186;18042460;18288197;18322460;18593880;19103666;19165350;19217410;19536130;20068231;20112406;20211137;20423332;20695905;20980672;21295486;21536652;2176635;21911577;22046413;22110043;22365833;22569126;22645359;22813749;22922743;22959432;22961380;23222130;23236153;23345524;23874216;24076191;24149845;24196718;24304693;24448447;24714562;24715725;24737827;24914973;25301780;25301781;25555158;25576301;2558966;26024233;26092250;26154972;26385511;26420826;26969736;26992070;27108190;27377154;27459055;27661449;27683217;27846572;28062851;28076346;28096519;28502770;28781166;28904123;28911096;29186539;29274231;29301961;29351928;29360106;29361316;29437277;29493099;2951739;29557506;2963332;29902443;30139799;30257008;30315277;30410026;30429286;30599162;30705154;30728453;30765414;30975767;31217245;31409651;31844290;32157095;32179686;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32816001;32897882;32938616;32983136;33123756;33141586;33177556;33243851;33298915;33392160;33446560;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34301950;34357683;34405274;34509645;34822310;34932366;35051231;35177536;35215846;35251023;35318648;35385551;35561310;35580925;36010968;36215666;36241641;36284347;36797247;3757028;38665916;39894887;40596516;40914422;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9716128;9731529", "class_list": "", "function": "Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:32494006). Associated with sn-RNP U2, where it contributes to the binding of stem loop IV of U2 snRNA (PubMed:32494006, PubMed:9716128)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R7J3;D3DW21;Q9UJD4", "ec_number_list": [], "go_molecular_function": "GO:0030619 U1 snRNA binding", "go_cellular_component": "GO:0005685 U1 snRNP;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome;GO:1903241 U2-type prespliceosome assembly", "synthesized_glycan_count": 0, "hit_score": 20.1, "record_id": "P08579-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N474-1", "uniprot_id": [ { "id": "SFRP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N474", "type": "external" } ], "mass": 35386.0, "length": 314, "protein_name": "Secreted frizzled-related protein 1", "gene_name": "SFRP1", "organism": "Human", "refseq_name": "secreted frizzled-related protein 1 precursor", "refseq_ac": [ { "id": "NP_003003", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003003", "type": "external" } ], "gene_names_uniprotkb": "SFRP1; FRP1; FRP; SARP2", "gene_names_refseq": "FRP-1; FRP1; FRP; FrzA; SARP2; SFRP1", "protein_names_uniprotkb": "Secreted frizzled-related protein 1; FRP-1; SARP-2; Secreted apoptosis-related protein 2; sFRP-1", "protein_names_refseq": "SARP-2; frizzled-related protein; sFRP-1; secreted apoptosis-related protein 2; secreted frizzled-related protein 1 precursor", "tax_id": 9606, "disease": "leiomyoma (Disease Ontology:DOID:127); renal cell carcinoma (Disease Ontology:DOID:4450); in situ carcinoma (Disease Ontology:DOID:8719)", "pathway": " (hsa:6422); (R-HSA-201681); (R-HSA-3772470)", "pathway_count": 3, "publication_count": 84, "publication_id_list": "10198061;10201374;10347172;11029007;11137016;11357136;11433302;11448771;11493532;11741940;11742004;11932307;12050670;12167704;12205098;12223464;12527209;12775774;12897152;14636582;14981260;15084453;15208637;15256437;15454084;15459103;15778503;15908424;16116452;16172602;16280981;16427602;16554443;16723543;16971168;17143291;17234765;17462603;18077588;18322270;18423204;18502762;18606139;19000841;19174556;19208630;19307728;19619488;19755491;20004982;20053636;20093360;21383061;21743455;21875946;21944579;21984209;22000855;22000856;22014570;22411803;22653731;22773843;22951645;22986341;23256519;23791946;29508533;30459171;31154438;32502341;32938616;35051231;38677505;38715918;38856164;39118123;39300373;9135132;9192640;9391078;9391096;9501980;9724099", "class_list": "", "function": "Downregulated PDIA3P1 lncRNA Impairs Trophoblast Phenotype by Regulating Snail and SFRP1 in PE. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA DLG5-AS1 facilitates breast cancer cell proliferation and invasion by promoting EZH2-mediated transcriptional silencing of SFRP1., [RefSeq, PubMed]; MTF2 facilitates the advancement of osteosarcoma through mediating EZH2/SFRP1/Wnt signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Proteins linking APOE varepsilon4 with Alzheimer's disease., [RefSeq, PubMed]; SFRP1 mediates cancer-associated fibroblasts to suppress cancer cell proliferation and migration in head and neck squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP1 decreases intracellular beta-catenin levels (By similarity). Has antiproliferative effects on vascular cells, in vitro and in vivo, and can induce, in vivo, an angiogenic response. In vascular cell cycle, delays the G1 phase and entry into the S phase (By similarity). In kidney development, inhibits tubule formation and bud growth in metanephroi (By similarity). Inhibits WNT1/WNT4-mediated TCF-dependent transcription., [UniProtKB]; This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O00546;O14779", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0008201 heparin binding;GO:0042802 identical protein binding;GO:0017147 Wnt-protein binding;GO:0004197 cysteine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0045880 positive regulation of smoothened signaling pathway;GO:0046851 negative regulation of bone remodeling;GO:0008284 positive regulation of cell population proliferation;GO:0008285 negative regulation of cell population proliferation;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q8N474-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43752-1", "uniprot_id": [ { "id": "STX6_HUMAN", "url": "https://www.uniprot.org/uniprot/O43752", "type": "external" } ], "mass": 29176.0, "length": 255, "protein_name": "Syntaxin-6", "gene_name": "STX6", "organism": "Human", "refseq_name": "syntaxin-6 isoform 2", "refseq_ac": [ { "id": "NP_001273139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273139", "type": "external" } ], "gene_names_uniprotkb": "STX6", "gene_names_refseq": "STX6", "protein_names_uniprotkb": "Syntaxin-6", "protein_names_refseq": "syntaxin-6 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10228); (R-HSA-6811438); (R-HSA-6811440)", "pathway_count": 3, "publication_count": 159, "publication_id_list": "10080545;10189370;10209123;10445031;10559959;10637310;10652308;10652516;10865125;10990452;11303027;11346801;11359012;11384996;11689439;11718716;11748249;11827983;11839770;12011112;12070132;12377769;12383348;12429822;12620188;12620189;14580338;14718928;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15504911;15654769;15718469;15728195;15758030;15870108;15878329;16042553;16129887;16571679;16885419;16912714;16936697;17159904;17274799;17451557;17488291;17525332;17562788;17684057;17698061;18086915;18195106;18243103;18256213;18367545;18451304;18578522;18664496;18946081;19164740;19490898;19536132;19620288;19690332;19715559;20068231;20163565;20163571;20685960;20874812;21183348;21421921;21436057;21689688;21807881;22013193;22188167;22335553;22354037;22581368;22717455;23091056;23186163;23239882;23378023;23437303;23462996;23818989;23839779;23936529;23940353;24119662;24794632;25343031;25502872;25708460;27452731;27846572;28218747;28467828;28514659;28626000;29242379;29314611;29437277;29557506;29632046;29632711;30315122;30379171;31217245;32265295;32350084;32357974;32938616;32983136;33043033;33298915;33592498;33936100;33968037;34078123;34087483;34357683;34433824;34932366;35051231;35154160;35251023;35561310;35862696;36215666;37378930;37564208;37877357;38280430;7909812;8221884;8440258;8620540;8636227;8670882;8945478;9050864;9177194;9230071;9244307;9476900;9510256;9590177;9653114;9707577;9915833", "class_list": "", "function": "Human Cytomegalovirus Manipulates Syntaxin 6 for Successful Trafficking and Subsequent Infection of Monocytes., [RefSeq, PubMed]; Intracellular trafficking of HIV-1 Gag via Syntaxin 6-positive compartments/vesicles: Involvement in tumor necrosis factor secretion., [RefSeq, PubMed]; N[6] -methyladenosine-modified circSTX6 promotes hepatocellular carcinoma progression by regulating the HNRNPD/ATF3 axis and encoding a 144 amino acid polypeptide., [RefSeq, PubMed]; SNARE promoting movement of transport vesicles to target membranes. Targets endosomes to the trans-Golgi network, and may therefore function in retrograde trafficking. Together with SNARE STX12, promotes movement of vesicles from endosomes to the cell membrane, and may therefore function in the endocytic recycling pathway., [UniProtKB, UniProtKB]; Syntaxin 6 Enhances the Progression of Epithelial Ovarian Cancer by Promoting Cancer Cell Proliferation. Publication Status: Online-Only, [RefSeq, PubMed]; Syntaxin-6 promotes the progression of hepatocellular carcinoma and alters its sensitivity to chemotherapies by activating the USF2/LC3B axis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R652;B4DR17;Q5VY08;Q6FH83", "ec_number_list": [], "go_molecular_function": "GO:0019905 syntaxin binding;GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0032880 regulation of protein localization;GO:0042147 retrograde transport, endosome to Golgi;GO:0032456 endocytic recycling;GO:0048193 Golgi vesicle transport", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "O43752-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04808-1", "uniprot_id": [ { "id": "REL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P04808", "type": "external" } ], "mass": 21146.0, "length": 185, "protein_name": "Prorelaxin H1", "gene_name": "RLN1", "organism": "Human", "refseq_name": "prorelaxin H1 preproprotein", "refseq_ac": [ { "id": "NP_008842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008842", "type": "external" } ], "gene_names_uniprotkb": "RLN1", "gene_names_refseq": "H1RLX; H1; RLN1; RLXH1; bA12D24.3.1; bA12D24.3.2", "protein_names_uniprotkb": "Prorelaxin H1", "protein_names_refseq": "preprorelaxin H1; prorelaxin H1 preproprotein; prorelaxin H1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6013)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10601981;28606038;28855257;29060928;33141586;6298628;6548702;8735594", "class_list": "", "function": "Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix., [UniProtKB]; Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013]., [RefSeq]; Results indicate that serum relaxin may be a clinically useful indicator for diagnostic and prognostic evaluation in epithelial ovarian cancer (EOC) patients., [RefSeq, PubMed]; The digestive tract has been shown to express relaxin receptors; the hormone appears to exert site-specific effects acting at the neural or at the smooth muscle level, mainly by a nitric oxide-mediated mechanism. (Review) Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q99936;Q9UQJ1", "ec_number_list": [], "go_molecular_function": "GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0007165 signal transduction;GO:0007565 female pregnancy", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "P04808-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5W150-1", "uniprot_id": [ { "id": "YT011_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5W150", "type": "external" } ], "mass": 15095.0, "length": 140, "protein_name": "Putative uncharacterized protein MGC163334", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein MGC163334", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5W150-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPW0-1", "uniprot_id": [ { "id": "FOXJ3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPW0", "type": "external" } ], "mass": 68960.0, "length": 622, "protein_name": "Forkhead box protein J3", "gene_name": "FOXJ3", "organism": "Human", "refseq_name": "forkhead box protein J3 isoform 1", "refseq_ac": [ { "id": "NP_001185779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185779", "type": "external" } ], "gene_names_uniprotkb": "FOXJ3; KIAA1041", "gene_names_refseq": "FOXJ3", "protein_names_uniprotkb": "Forkhead box protein J3", "protein_names_refseq": "forkhead box protein J3 isoform 1; forkhead box protein J3", "tax_id": 9606, "disease": "", "pathway": " (hsa:22887)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "11237011;18452278;18669648;18691976;19413330;19664995;19690332;20068231;21406692;22645359;22740631;23186163;23481700;24715725;25576301;25892735;26024233;26154972;26811146;26992070;27600516;27846572;27920218;28218747;28649982;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29786170;29789417;30410026;30429286;30524438;30720162;31844290;32157095;32305992;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34724864;35051231;35561310;35580925;36010968;36241641;36284347;37351974;37938771;38665916", "class_list": "", "function": "Circular RNA circSLC8A1 inhibits the proliferation and invasion of non-small cell lung cancer cells through targeting the miR-106b-5p /FOXJ3 axis., [RefSeq, PubMed]; FOXJ3 Regulates Cell Proliferation and Motility Through Modulating Snail Expression in Breast Cancer Cells., [RefSeq, PubMed]; FOXJ3 is identified as a novel cell cycle reguulator that may regulate a network of zinc finger proteins., [RefSeq, PubMed]; Integrin Subunit Alpha 5 (ITGA5) Gene Circular RNA Sponges microRNA-107 in Colorectal Carcinoma Cells and Tissues and Regulates the Expression of the Forkhead Box J3 (FOXJ3) Gene. Publication Status: Online-Only, [RefSeq, PubMed]; The found the stimulation effects of miR-425-5p on prostate cancer (PCa) cell behaviors were fulfilled through directly regulating the expression of FOXJ3, which validated FOXJ3 as a functional target of miR-425-5p in PCa., [RefSeq, PubMed]; Transcriptional activator of MEF2C involved in the regulation of adult muscle fiber type identity and skeletal muscle regeneration (By similarity). Plays an important role in spermatogenesis (By similarity). Required for the survival of spermatogonia and participates in spermatocyte meiosis (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7MBL7;A7MD18;D3DPW2;Q9NSS7", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9UPW0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P531-1", "uniprot_id": [ { "id": "GGT6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P531", "type": "external" } ], "mass": 50509.0, "length": 493, "protein_name": "Glutathione hydrolase 6", "gene_name": "GGT6", "organism": "Human", "refseq_name": "glutathione hydrolase 6 isoform c", "refseq_ac": [ { "id": "NP_001275631", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275631", "type": "external" } ], "gene_names_uniprotkb": "GGT6", "gene_names_refseq": "GGT6", "protein_names_uniprotkb": "Glutathione hydrolase 6; 2.3.2.2; 3.4.19.13; GGT 6; Gamma-glutamyltransferase 6; Gamma-glutamyltranspeptidase 6", "protein_names_refseq": "gamma-glutamyltransferase 6 homolog; gamma-glutamyltranspeptidase 6; glutathione hydrolase 6 isoform c; glutathione hydrolase 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:124975); (R-HSA-174403); (R-HSA-5423646); (R-HSA-9753281)", "pathway_count": 4, "publication_count": 67, "publication_id_list": "10369661;10741631;11237011;11409944;11714888;11904223;12144777;12473676;12727802;12933810;1504254;16385575;1643250;16696573;16970545;17627974;17924658;18232020;18357469;18416522;18515354;19109178;19463;19842618;20190787;21666065;21712391;22349737;22406294;23682772;24715725;2573352;25931127;26049587;26067475;28118524;28228285;29557506;29789417;31844290;32325220;32472168;33537174;3372534;3395122;34087483;34185709;35051231;3931076;6950087;70646;7469630;7646467;7764673;7766804;7826375;8439558;8703034;8812420;8813074;8975785;9024171;9080;9278457;9516961;9576847;9675072", "class_list": "", "function": "GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]., [RefSeq]; Hydrolyzes and transfers gamma-glutamyl moieties from glutathione and other gamma-glutamyl compounds to acceptors., [UniProtKB, UniProtKB]; Variants of GGT6 were associated with rheumatoid arthritis in an Arab population., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DUH4;Q8NCM0", "ec_number_list": [ { "id": "2.3.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.2", "type": "external" }, { "id": "3.4.19.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.13", "type": "external" }, { "id": "3.4.19.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.14", "type": "external" } ], "go_molecular_function": "GO:0036374 glutathione hydrolase activity;GO:0103068 leukotriene C4 gamma-glutamyl transferase activity", "go_cellular_component": "GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006750 glutathione biosynthetic process;GO:1901750 leukotriene D4 biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q6P531-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VW38-1", "uniprot_id": [ { "id": "GP107_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VW38", "type": "external" } ], "mass": 66990.0, "length": 600, "protein_name": "Protein GPR107", "gene_name": "GPR107", "organism": "Human", "refseq_name": "protein GPR107 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001130029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130029", "type": "external" } ], "gene_names_uniprotkb": "GPR107; KIAA1624; LUSTR1", "gene_names_refseq": "GCDRP; GPR107; LUSTR1; bA138E2.2", "protein_names_uniprotkb": "Protein GPR107; Lung seven transmembrane receptor 1", "protein_names_refseq": "lung seven transmembrane receptor 1; protein GPR107 isoform 1 precursor; protein GPR107", "tax_id": 9606, "disease": "", "pathway": " (hsa:57720)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;17454009;22898188;22933024;23090970;23481700;24190977;24715725;25031321;25645385;25813380;27920218;28514659;28832583;28834231;28904123;29314611;29605689;29741879;29789417;30315122;30410026;30833945;31222486;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32502341;32938616;32983136;33121311;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34211107;34357683;34405274;34509645;34932366;35051231;35251023;36010968;36215666;37074911", "class_list": "", "function": "(Microbial infection) Required for intoxication by Pseudomonas aeruginosa exotoxin A and Campylobacter jejuni CDT. May contribute to the retrograde transport of bacterial toxins, including cholera toxin, from the trans-Golgi network to the endoplasmic reticulum., [UniProtKB, PubMed]; Changes in expression of orphan receptors GPR99 and GPR107 during the development and establishment of hypertension in spontaneously hypertensive rats., [RefSeq, PubMed]; GPR107 is a promising candidate receptor for neuronostatin, and neuronostatin, interacting with GPR107, may play an important role in the central control of cardiovascular function., [RefSeq, PubMed]; Has been proposed to act as a receptor for neuronostatin, a peptide derived from the somatostatin/SST precursor (PubMed:22933024). Involved in blood sugar regulation through the induction of glucagon in response to low glucose (By similarity)., [UniProtKB, PubMed, UniProtKB]; The 18-exon human GPR107 gene is located at 9q34.2-3 and spans 86.4 kb and the cDNA encodes a 552 residue protein; murine Gpr108 cDNA encodes a 562 residue protein that has 49% identity to human GPR107., [RefSeq, PubMed]; The N-terminal region of GPR107 is critical for its biological function. GPR107 might be one of the long-sought receptors that associates with G-proteins to regulate intracellular vesicular transport, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 17, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A6NJ53;Q2TB81;Q5JPA3;Q5VW39;Q96T26;Q9H658;Q9HCE8", "ec_number_list": [], "go_molecular_function": "GO:0032050 clathrin heavy chain binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030136 clathrin-coated vesicle", "go_biological_process": "GO:0072583 clathrin-dependent endocytosis", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q5VW38-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAK5-1", "uniprot_id": [ { "id": "GABP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAK5", "type": "external" } ], "mass": 48650.0, "length": 448, "protein_name": "GA-binding protein subunit beta-2", "gene_name": "GABPB2", "organism": "Human", "refseq_name": "GA-binding protein subunit beta-2 isoform a", "refseq_ac": [ { "id": "NP_001310837", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310837", "type": "external" } ], "gene_names_uniprotkb": "GABPB2", "gene_names_refseq": "GABPB-2; GABPB2", "protein_names_uniprotkb": "GA-binding protein subunit beta-2; GABP subunit beta-2; GABPB-2", "protein_names_refseq": "GA binding protein transcription factor beta subunit 2; GA-binding protein subunit beta-2 isoform a; GA-binding protein subunit beta-2; GABP subunit beta-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:126626)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;20237496;20800603;23481700;26154972;29351928;29485866;29557506;31154438;32897882;33592498;33968037;34561969;34932366;35051231;35580925;36241641;37938771;40307207;40596516", "class_list": "", "function": "May function as transcription factor capable of interacting with purine rich repeats (GA repeats)., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B1AVJ8;D3DV14;Q8NAR5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8TAK5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULT6-1", "uniprot_id": [ { "id": "ZNRF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULT6", "type": "external" } ], "mass": 100574.0, "length": 936, "protein_name": "E3 ubiquitin-protein ligase ZNRF3", "gene_name": "ZNRF3", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase ZNRF3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001193927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193927", "type": "external" } ], "gene_names_uniprotkb": "ZNRF3; KIAA1133; RNF203", "gene_names_refseq": "BK747E2.3; RNF203; ZNRF3", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase ZNRF3; 2.3.2.27; RING finger protein 203; RING-type E3 ubiquitin transferase ZNRF3; Zinc/RING finger protein 3", "protein_names_refseq": "CTA-292E10.6; E3 ubiquitin-protein ligase ZNRF3 isoform 1 precursor; E3 ubiquitin-protein ligase ZNRF3; RING finger protein 203; RING-type E3 ubiquitin transferase ZNRF3; novel C3HC4 type Zinc finger (ring finger); zinc/RING finger protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:84133); (R-HSA-4641263)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10.1101/2023.09.13.557529;16109882;16357527;17400545;17804805;20112406;20495530;21693646;21727895;21909076;22575959;23481700;23504200;23670221;23847203;24225776;29242379;29314611;29557506;29769720;31530632;32157095;32161166;32350084;32938616;33298915;33592498;33691108;33912179;34357683;35051231;35251023;37541260;37878959;38056465;38457275;38969364;39168120", "class_list": "", "function": "Comprehensive analysis of zinc and ring finger 3 in prognostic value and pan-cancer immunity., [RefSeq, PubMed]; Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/beta-catenin signaling., [RefSeq, PubMed]; E3 ligases RNF43 and ZNRF3 display differential specificity for endocytosis of Frizzled receptors. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination and subsequent degradation of Wnt receptor complex components Frizzled and LRP6. Acts on both canonical and non-canonical Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby restricting the size of the intestinal stem cell zone (PubMed:22575959). Along with RSPO2 and RNF43, constitutes a master switch that governs limb specification (By similarity)., [UniProtKB, PubMed, UniProtKB]; Genes within recently identified loci associated with waist-hip ratio (WHR) exhibit fat depot-specific mRNA expression, which correlates with obesity-related traits. Adipose tissue (AT) mRNA expression of 6 genes (TBX15/WARS2, STAB1, PIGC, ZNRF3, GRB14, [RefSeq, PubMed]; Potent and selective binders of the E3 ubiquitin ligase ZNRF3 stimulate Wnt signaling and intestinal organoid growth., [RefSeq, PubMed]; Signalling potency of R-spondin proteins depends on their ability to recruit ZNRF3 or RNF43 via Fu1 into a complex with LGR receptors, which interact with Rspo via Fu2, [RefSeq, PubMed]; Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia., [RefSeq, PubMed]; Study provides new mechanistic insights into the regulation of Wnt receptor turnover, and reveals ZNRF3 as a tractable target for therapeutic exploration Publication Status: Online-Only, [RefSeq, PubMed]; ZNRF3 inhibits gastric cancer cell growth and promotes cell apoptosis by affecting the Wnt/beta-catenin/TCF4 signalling pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KU18;Q6ICH1;Q6NTF8;Q8WU18", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0005109 frizzled binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:2000095 regulation of Wnt signaling pathway, planar cell polarity pathway;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0016055 Wnt signaling pathway;GO:0016567 protein ubiquitination;GO:0060173 limb development", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9ULT6-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQT6-1", "uniprot_id": [ { "id": "FSCN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQT6", "type": "external" } ], "mass": 56624.0, "length": 498, "protein_name": "Fascin-3", "gene_name": "FSCN3", "organism": "Human", "refseq_name": "fascin-3", "refseq_ac": [ { "id": "NP_065102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065102", "type": "external" } ], "gene_names_uniprotkb": "FSCN3", "gene_names_refseq": "FSCN3", "protein_names_uniprotkb": "Fascin-3; Testis fascin", "protein_names_refseq": "fascin actin-bundling protein 3, testicular; fascin homolog 3, actin-bundling protein, testicular; fascin-3; testicular secretory protein Li 18; testis fascin", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); achalasia (Disease Ontology:DOID:9164)", "pathway": " (hsa:29999)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;11925108;29557506", "class_list": "", "function": "Acts as an actin bundling protein., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D0Z2;A6NLL7;B2RA62;B4DU68", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0015629 actin cytoskeleton;GO:0030027 lamellipodium;GO:0030426 growth cone", "go_biological_process": "GO:0016477 cell migration;GO:0051017 actin filament bundle assembly;GO:0007163 establishment or maintenance of cell polarity", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9NQT6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWW8-1", "uniprot_id": [ { "id": "GAB3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWW8", "type": "external" } ], "mass": 65589.0, "length": 586, "protein_name": "GRB2-associated-binding protein 3", "gene_name": "GAB3", "organism": "Human", "refseq_name": "GRB2-associated-binding protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001075042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075042", "type": "external" } ], "gene_names_uniprotkb": "GAB3", "gene_names_refseq": "GAB3", "protein_names_uniprotkb": "GRB2-associated-binding protein 3; GRB2-associated binder 3; Growth factor receptor bound protein 2-associated protein 3", "protein_names_refseq": "DOS/Gab family member 3; GRB2-associated binder 3; GRB2-associated-binding protein 3 isoform 1; Gab3 scaffolding protein; growth factor receptor bound protein 2-associated protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:139716); (R-HSA-9680350)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "11237011;11739737;11997510;12640125;12882960;1334462;18467591;20489731;21049007;2196173;22153499;22483114;23186163;24890514;26029847;26235028;26992070;28115166;28218747;28291820;28832583;29242379;29437277;35580925;35822560;36545920;7597091;7681396;7737969;8355686;8981370;9225065", "class_list": "", "function": "Hematopoiesis in mice lacking Gab3 is not impaired, macrophages develop in normal numbers and exhibit normal function, and there is no major immune deficiency in T- and B-lymphocyte responses to protein antigens or during viral infection., [RefSeq, PubMed]; High expression of GRB2 associated binding protein 3 mRNA predicts positive prognosis in melanoma., [RefSeq, PubMed]; Identification of Grb2-associated binding protein 3 expression to predict clinical outcomes and immunotherapeutic responses in lung adenocarcinoma., [RefSeq, PubMed]; The carboxy-terminal SH3 domain of the adapter protein Mona interacts with the atypical proline-rich domain of Gab3 to mediate late signaling of the macrophage colony-stimulating factor receptor., [RefSeq, PubMed]; This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]; Together, our results suggest that Gab3 expression in CRC cells is important for Akt-Erk activation and cell proliferation., [RefSeq, PubMed]; We conclude that Gab3 overexpression in human glioma mediates Akt activation and cancer cell proliferation Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NHF8;E9PB44", "ec_number_list": [], "go_molecular_function": "GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8WWW8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96S90-1", "uniprot_id": [ { "id": "LYSM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96S90", "type": "external" } ], "mass": 25003.0, "length": 227, "protein_name": "LysM and putative peptidoglycan-binding domain-containing protein 1", "gene_name": "LYSMD1", "organism": "Human", "refseq_name": "lysM and putative peptidoglycan-binding domain-containing protein 1 isoform b", "refseq_ac": [ { "id": "NP_001130015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130015", "type": "external" } ], "gene_names_uniprotkb": "LYSMD1; SB145", "gene_names_refseq": "LYSMD1; SB145", "protein_names_uniprotkb": "LysM and putative peptidoglycan-binding domain-containing protein 1", "protein_names_refseq": "LysM, putative peptidoglycan-binding, domain containing 1; RP11-68I18.5; lysM and putative peptidoglycan-binding domain-containing protein 1 isoform b; lysM and putative peptidoglycan-binding domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:388695)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "17322306;18767875;19651622;19664994;20058876;20068231;21406692;23186163;25505266;25892735;26992070;28228285;28834231;29242379;29769354;30379171;30429286;31844290;31848261;32157095;32387766;33592498;33717175;33912179;34357683;36581221;40307207", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DQA1;Q69YX9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q96S90-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15915-1", "uniprot_id": [ { "id": "ZIC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15915", "type": "external" } ], "mass": 48309.0, "length": 447, "protein_name": "Zinc finger protein ZIC 1", "gene_name": "ZIC1", "organism": "Human", "refseq_name": "zinc finger protein ZIC 1", "refseq_ac": [ { "id": "NP_003403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003403", "type": "external" } ], "gene_names_uniprotkb": "ZIC1; ZIC; ZNF201", "gene_names_refseq": "BAIDCS; CRS6; ZIC1; ZIC; ZNF201", "protein_names_uniprotkb": "Zinc finger protein ZIC 1; Zinc finger protein 201; Zinc finger protein of the cerebellum 1", "protein_names_refseq": "Zic family member 1 (odd-paired homolog, Drosophila); Zinc finger protein of the cerebellum 1; zinc finger protein 201; zinc finger protein ZIC 1", "tax_id": 9606, "disease": "Joubert syndrome (Disease Ontology:DOID:0050777); craniosynostosis 6 (Disease Ontology:DOID:0061008); Dandy-Walker syndrome (Disease Ontology:DOID:2785); holoprosencephaly (Disease Ontology:DOID:4621); structural brain anomalies with impaired intellectual development and craniosynostosis (MONDO:MONDO:0032892)", "pathway": " (hsa:7545); (R-HSA-9834899); (R-HSA-9856649)", "pathway_count": 3, "publication_count": 76, "publication_id_list": "10567402;10611221;10655586;10673502;11027551;11237011;11840323;11891324;11912130;11930005;12783990;14975237;15118077;15226305;15507434;16014379;16034366;16822840;1698554;17081983;1748288;17623675;18644867;19524539;19608861;20460180;21486943;21965087;22647378;23159739;23190890;23207919;25248477;25576301;25595898;25645385;26340333;26992070;27128622;27600516;27846572;28394346;29295999;29331515;29557506;30391508;30429286;30804224;31154438;32157095;32636443;32897882;33392160;33744299;33968037;34140478;34475426;34509645;35051231;35328378;35628134;35997131;37317792;37770430;5338216;7958932;8336698;8542595;8895516;9199364;9353119;9440696;9560246;9676189;9760192;9973413", "class_list": "", "function": "Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in the cytoplasm. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3' (By similarity)., [UniProtKB, UniProtKB]; Age-Related DNA Methylation in Normal Kidney Tissue Identifies Epigenetic Cancer Risk Susceptibility Loci in the ANKRD34B and ZIC1 Genes. Publication Status: Online-Only, [RefSeq, PubMed]; Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy., [RefSeq, PubMed]; Mechanical-Stress-Related Epigenetic Regulation of ZIC1 Transcription Factor in the Etiology of Postmenopausal Osteoporosis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional expression of ZICs as an independent indicator of survival in gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; ZIC1 Dictates Osteogenesis Versus Adipogenesis in Human Mesenchymal Progenitor Cells Via a Hedgehog Dependent Mechanism., [RefSeq, PubMed]; Zic-1-mediated transcription is repressed by the intracellular domain of teneurin-2, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2M3N1", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0098727 maintenance of cell number;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0021510 spinal cord development", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q15915-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18283-1", "uniprot_id": [ { "id": "GPX2_HUMAN", "url": "https://www.uniprot.org/uniprot/P18283", "type": "external" } ], "mass": 21954.0, "length": 190, "protein_name": "Glutathione peroxidase 2", "gene_name": "GPX2", "organism": "Human", "refseq_name": "glutathione peroxidase 2", "refseq_ac": [ { "id": "NP_002074", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002074", "type": "external" } ], "gene_names_uniprotkb": "GPX2", "gene_names_refseq": "GI-GPx; GPRP-2; GPRP; GPX2; GPx-2; GPx-GI; GSHPX-GI; GSHPx-2", "protein_names_uniprotkb": "Glutathione peroxidase 2; 1.11.1.12; 1.11.1.9; GPRP-2; GPx-2; GPx-GI; GSHPx-2; GSHPx-GI; Gastrointestinal glutathione peroxidase; Glutathione peroxidase-gastrointestinal; Glutathione peroxidase-related protein 2; Phospholipid hydroperoxide glutathione peroxidase GPX2", "protein_names_refseq": "gastrointestinal glutathione peroxidase; glutathione peroxidase 2 (gastrointestinal); glutathione peroxidase 2; glutathione peroxidase-related protein 2; phospholipid hydroperoxide glutathione peroxidase GPX2; selenoprotein GPX2", "tax_id": 9606, "disease": "colorectal adenoma (Disease Ontology:DOID:0050860); colorectal carcinoma (Disease Ontology:DOID:0080199); ulcerative colitis (Disease Ontology:DOID:8577); alcoholic gastritis (Disease Ontology:DOID:8680); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:2877); (R-HSA-2142688); (R-HSA-2142712); (R-HSA-2142770); (R-HSA-3299685); (R-HSA-5628897)", "pathway_count": 6, "publication_count": 180, "publication_id_list": "10029572;10329961;10514471;10521424;10549853;10656833;10692117;10716435;10745013;10806356;10833429;10919671;10980602;10982;11018045;11029283;11034341;11115402;11139407;11237011;11340051;11486029;11507097;11518528;11545734;11839751;11886899;11912930;11959846;12161445;12203114;12438239;12446202;12453409;12714747;12829378;12869586;12881489;12906785;13298683;13538944;14651849;15044467;15046979;15064408;15105503;15223;15280035;15317809;15589136;15596429;15629692;15772423;15927447;16140933;16401067;16413492;16615992;1662607;16636147;1668270;16728594;16750198;16760263;16839880;16880213;17275676;17298220;17486094;17519234;17540029;1763037;17662651;17707404;18198340;18344994;18358825;18570379;18692468;18703498;18936159;19082953;19113821;19219623;19439913;19487573;19542232;19822145;1999334;20070187;20080666;20182617;20351271;20367259;20378837;20690882;2071038;21215271;21385867;21393238;21558561;21750704;21958598;21967640;2217179;22363791;22493009;22869735;22910329;23152058;23164639;2318885;23454490;23455484;23775793;2377602;2388849;24066844;24366874;24383451;24718924;2501828;25047527;25579166;26370990;26652033;29331515;29557506;3006030;30524438;31154438;3118366;31222486;3164719;31937595;32938616;32983136;33981976;34087483;34171305;34509645;3457020;35051231;3532102;35580925;3619451;36284347;36608588;36796200;3693360;37138031;37743483;37810778;37938771;5389100;5666113;60;6286671;6816802;6961438;7021796;7172448;7487923;7568157;7979252;7989588;807573;8119488;8334154;8379940;8428933;8452552;8663465;9295278;9369223;9618483;9639555;9726962;9923614;9926927", "class_list": "", "function": "ACVRL1 drives resistance to multitarget tyrosine kinase inhibitors in colorectal cancer by promoting USP15-mediated GPX2 stabilization. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the reduction of hydroperoxides in a glutathione-dependent manner thus regulating cellular redox homeostasis (PubMed:36608588, PubMed:8428933). Can reduce small soluble hydroperoxides such as H2O2, cumene hydroperoxide and tert-butyl hydroperoxide, as well as several fatty acid-derived hydroperoxides (PubMed:36608588, PubMed:8428933). Cannot reduce phosphatidycholine hydroperoxide (PubMed:8428933)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Glutathione peroxidase 2 knockdown suppresses gastric cancer progression and metastasis via regulation of kynurenine metabolism., [RefSeq, PubMed]; Glutathione peroxidase 2: A key factor in the development of microsatellite instability in colon cancer., [RefSeq, PubMed]; Long non-coding RNA NMRAL2P promotes glycolysis and reduces ROS in head and neck tumors by interacting with the ENO1 protein and promoting GPX2 transcription. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is predominantly expressed in the gastrointestinal tract (also in liver in human), is localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. Overexpression of this gene is associated with increased differentiation and proliferation in colorectal cancer. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6PJ52;Q8WWI7;Q9NRP9", "ec_number_list": [ { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" }, { "id": "2.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "1.11.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.12", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0004602 glutathione peroxidase activity;GO:0047066 phospholipid-hydroperoxide glutathione peroxidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0034599 cellular response to oxidative stress;GO:0006979 response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "P18283-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DJR0-1", "uniprot_id": [ { "id": "GIMD1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DJR0", "type": "external" } ], "mass": 24463.0, "length": 217, "protein_name": "GTPase IMAP family member GIMD1", "gene_name": "GIMD1", "organism": "Human", "refseq_name": "GTPase IMAP family member GIMD1", "refseq_ac": [ { "id": "NP_001182067", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182067", "type": "external" } ], "gene_names_uniprotkb": "GIMD1", "gene_names_refseq": "GIMD1", "protein_names_uniprotkb": "GTPase IMAP family member GIMD1; GIMAP family P-loop NTPase domain-containing protein 1", "protein_names_refseq": "GIMAP family P-loop NTPase domain-containing protein 1; GTPase IMAP family member GIMD1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100507096)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "30379171", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P0DJR0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q04446-1", "uniprot_id": [ { "id": "GLGB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q04446", "type": "external" } ], "mass": 80474.0, "length": 702, "protein_name": "1,4-alpha-glucan-branching enzyme", "gene_name": "GBE1", "organism": "Human", "refseq_name": "1,4-alpha-glucan-branching enzyme", "refseq_ac": [ { "id": "NP_000149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000149", "type": "external" } ], "gene_names_uniprotkb": "GBE1", "gene_names_refseq": "APBD; GBE1; GBE; GSD4", "protein_names_uniprotkb": "1,4-alpha-glucan-branching enzyme; 2.4.1.18; Brancher enzyme; Glycogen-branching enzyme", "protein_names_refseq": "1,4-alpha-glucan-branching enzyme; amylo-(1,4 to 1,6) transglucosidase; amylo-(1,4 to 1,6) transglycosylase; brancher enzyme; glucan (1,4-alpha-), branching enzyme 1; glycogen branching enzyme", "tax_id": 9606, "disease": "porphyria (Disease Ontology:DOID:13268); glycogen storage disease IV (Disease Ontology:DOID:2750); pulmonary tuberculosis (Disease Ontology:DOID:2957); adult polyglucosan body disease (MONDO:MONDO:0009897)", "pathway": " (hsa:2632); (R-HSA-3322077); (R-HSA-3878781)", "pathway_count": 3, "publication_count": 111, "publication_id_list": "10545044;10762170;11237011;15452297;15592455;15930137;16528737;17662246;18040046;18070875;19699667;20357282;20538597;21356517;22223895;22248338;22544926;22645359;23034915;23481700;23663739;24714562;25416783;25418920;25538239;25544560;25576301;25645385;25665141;25880248;26024233;26154972;26199317;26216881;26375851;26728094;26929215;26992070;27600516;27846572;27920218;28063628;28228285;28467828;28832583;28860189;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29789417;29930882;30315122;30524438;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33936100;33968037;33981976;34019948;34171305;34185709;34211107;34357683;34405274;34509645;34633740;34932366;35051231;35154160;35318648;35580925;36215666;36241641;36284347;36456471;38012812;38665916;4829444;5348606;5427280;7902568;8247964;8463281;8613547;8631325;9346895;9691087;9851430", "class_list": "glycogene;glycosylhydrolase", "function": "A family study implicates GBE1 in the etiology of autism spectrum disorder., [RefSeq, PubMed]; Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation., [RefSeq, PubMed]; Glycogen-branching enzyme participates in the glycogen biosynthetic process along with glycogenin and glycogen synthase. Generates alpha-1,6-glucosidic branches from alpha-1,4-linked glucose chains, to increase solubility of the glycogen polymer (PubMed:26199317, PubMed:8463281, PubMed:8613547)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1002, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KWV3;Q96EN0", "ec_number_list": [ { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "2.4.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.11", "type": "external" }, { "id": "2.4.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.18", "type": "external" } ], "go_molecular_function": "GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds;GO:0030246 carbohydrate binding;GO:0003844 1,4-alpha-glucan branching enzyme activity;GO:0043169 cation binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0005977 glycogen metabolic process;GO:0043524 negative regulation of neuron apoptotic process;GO:0005978 glycogen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q04446-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NUI2-1", "uniprot_id": [ { "id": "GPAT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NUI2", "type": "external" } ], "mass": 87835.0, "length": 795, "protein_name": "Glycerol-3-phosphate acyltransferase 2, mitochondrial", "gene_name": "GPAT2", "organism": "Human", "refseq_name": "glycerol-3-phosphate acyltransferase 2, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001308454", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308454", "type": "external" } ], "gene_names_uniprotkb": "GPAT2", "gene_names_refseq": "CT123; GPAT2", "protein_names_uniprotkb": "Glycerol-3-phosphate acyltransferase 2, mitochondrial; 1-acylglycerol-3-phosphate O-acyltransferase GPAT2; 2.3.1.15; 2.3.1.51; GPAT-2; xGPAT1", "protein_names_refseq": "1-acylglycerol-3-phosphate O-acyltransferase GPAT2; cancer/testis antigen 123; glycerol-3-phosphate acyltransferase 2, mitochondrial isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:150763); (R-HSA-1483166); (R-HSA-75109)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "10455175;10506173;10553003;10681567;11031251;11112443;11237011;11481335;11672446;11788596;11830583;12063250;12161451;12359733;12522102;12618427;12824082;12963729;14521909;14573790;14970677;15367102;15845384;16460752;16495223;16620771;16704971;16864775;17028579;17158099;17170135;17707131;18238778;18694939;18718904;19336658;19666841;20643956;20705608;21173190;22777291;22922100;23176821;23176823;23807634;24714562;24966474;24967918;25576301;25838202;26711011;26992070;2925608;29493099;30484775;31844290;32157095;32488085;33141586;33936100;33968037;33981976;3458202;35051231;35580925;36241641;37938771;7060561;7821823;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9461603;9582313", "class_list": "", "function": "GPAT2 as a cancer testis gene Publication Status: Online-Only, [RefSeq, PubMed]; Transfers an acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate producing a lysophosphatidic acid (LPA), an essential step for the triacylglycerol (TAG) and glycerophospholipids. In vitro also transfers an acyl-group from acyl-ACP to the LPA producing a phosphatidic acid (PA). Prefers arachidonoyl-CoA as the acyl donor. Required for primary processing step during piRNA biosynthesis. Molecular mechanisms by which it promotes piRNA biosynthesis are unclear and do not involve its acyltransferase activity., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6P2E4;Q6ZNI3;Q6ZNI5;Q6ZWJ4", "ec_number_list": [ { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "2.3.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.15", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n7", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" } ], "go_molecular_function": "GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity;GO:0004366 glycerol-3-phosphate O-acyltransferase activity;GO:0008374 O-acyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0006650 glycerophospholipid metabolic process;GO:0006654 phosphatidic acid biosynthetic process;GO:0019432 triglyceride biosynthetic process;GO:0006072 glycerol-3-phosphate metabolic process;GO:0034587 piRNA processing", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q6NUI2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IS24-1", "uniprot_id": [ { "id": "GLT17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IS24", "type": "external" } ], "mass": 67751.0, "length": 598, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 17", "gene_name": "GALNT17", "organism": "Human", "refseq_name": "polypeptide N-acetylgalactosaminyltransferase 17 precursor", "refseq_ac": [ { "id": "NP_071924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071924", "type": "external" } ], "gene_names_uniprotkb": "GALNT17; WBSCR17", "gene_names_refseq": "GALNACT17; GALNT17; GALNT20; GALNTL3; GalNAc-T17; GalNAc-T19; GalNAc-T5L; WBSCR17", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 17; 2.4.1.41; GalNAc-T-like protein 3; Polypeptide GalNAc transferase-like protein 3; Protein-UDP acetylgalactosaminyltransferase-like protein 3; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3; Williams-Beuren syndrome chromosomal region 17 protein; pp-GaNTase-like protein 3", "protein_names_refseq": "UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like 3; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3; Williams-Beuren syndrome chromosome region 17; galNAc-T-like protein 3; polypeptide GalNAc transferase 3; polypeptide GalNAc transferase-like protein 3; polypeptide N-acetylgalactosaminyltransferase 17 precursor; polypeptide N-acetylgalactosaminyltransferase WBSCR17; polypeptide N-acetylgalactosaminyltransferase-like 3; pp-GaNTase-like protein 3; pp-GalNAc-transferase 20; ppGalNAc-T17; protein-UDP acetylgalactosaminyltransferase-like protein 3; putative polypeptide N-acetylgalactosaminyltransferase-like protein 3; williams-Beuren syndrome chromosomal region 17 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64409); (R-HSA-913709)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10330415;10430883;10753916;11013070;11042166;11237011;11283017;11304796;11821425;12073013;12855678;1329093;15486459;15489334;15560372;15620693;15744064;17113861;17974005;18537974;19240061;22183981;22566498;23377640;24643043;24939585;27876814;29331515;31844290;32310270;32798559;33091337;38640170;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Circ_WBSCR17 aggravates inflammatory responses and fibrosis by targeting miR-185-5p/SOX6 regulatory axis in high glucose-induced human kidney tubular cells., [RefSeq, PubMed]; GWA study identified maternal genetic effects not previously identified in ASD at a locus in WBSCR17., [RefSeq, PubMed]; Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study., [RefSeq, PubMed]; May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Parkinson's Disease Risk Variant rs9638616 is Non-Specifically Associated with Altered Brain Structure and Function., [RefSeq, PubMed]; This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 866, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8NFV9;Q9NTA8", "ec_number_list": [ { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006493 protein O-linked glycosylation", "synthesized_glycan_count": 7434, "hit_score": 4.1, "record_id": "Q6IS24-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94925-1", "uniprot_id": [ { "id": "GLSK_HUMAN", "url": "https://www.uniprot.org/uniprot/O94925", "type": "external" } ], "mass": 73461.0, "length": 669, "protein_name": "Glutaminase kidney isoform, mitochondrial", "gene_name": "GLS", "organism": "Human", "refseq_name": "glutaminase kidney isoform, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001243239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243239", "type": "external" } ], "gene_names_uniprotkb": "GLS; GLS1; KIAA0838", "gene_names_refseq": "AAD20; CASGID; DEE71; EIEE71; GAC; GAM; GDPAG; GLS1; GLS; KGA", "protein_names_uniprotkb": "Glutaminase kidney isoform, mitochondrial; 3.5.1.2; GLS; K-glutaminase; L-glutamine amidohydrolase", "protein_names_refseq": "K-glutaminase; L-glutamine amidohydrolase; glutaminase C; glutaminase kidney isoform, mitochondrial isoform 2; glutaminase, phosphate-activated", "tax_id": 9606, "disease": "CASGID syndrome (Disease Ontology:DOID:0061156); developmental and epileptic encephalopathy 71 (Disease Ontology:DOID:0112207); lymphangioleiomyomatosis (Disease Ontology:DOID:3319); global developmental delay, progressive ataxia, and elevated glutamine (MONDO:MONDO:0032733)", "pathway": " (hsa:2744); (R-HSA-210500); (R-HSA-5628897); (R-HSA-8964539)", "pathway_count": 4, "publication_count": 158, "publication_id_list": "10329961;10440375;10620514;10716435;10719215;10745013;10980602;11001057;11015561;11029283;11034341;11237011;11242046;11340051;11486029;11545734;11756489;11903050;11959846;12054821;12161445;12203114;12438239;12453409;12519779;12714747;12869586;12906785;13298683;13538944;14651849;14759258;15105503;15223;15364907;15589136;15935055;16116111;16140933;16267323;16413492;16616430;16636147;16728594;16730026;16760263;16839880;16899818;17298220;1737786;17478680;17486094;17540029;17891149;17940881;17989281;18005987;18198340;18215623;18344994;18692468;19113821;19338303;19439913;19487573;19608861;19648921;19822145;20068231;20080666;20182617;20351271;20378837;20657015;21750704;21958598;22049910;22228304;22363791;22538822;23024808;23481700;23775793;24066844;24366874;24383451;24451979;24578174;24715725;24718924;25576301;25579166;25865492;26154972;26652033;26768311;26902786;26988803;26992070;2722838;27846572;28254787;28510447;28526749;28832583;28904123;29242379;29317493;29515166;29557506;29671580;30239721;30397120;30575854;30970188;31217245;31422819;31844290;31848261;3214421;32157095;32265295;32387766;32502341;32938616;33141586;33298915;33592498;33912179;33936100;33968037;34211107;34229054;34509645;34725712;35051231;35526384;36010968;36241641;37217939;38353358;38662258;38665916;39315548;40204725;4052435;40914422;429360;5666113;6819292;7883047;7979252;7989588;8119488;8294935;9514741;9701566;9926927", "class_list": "", "function": "Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate, the main excitatory neurotransmitter in the brain (PubMed:30239721, PubMed:30575854, PubMed:30970188)., [UniProtKB, PubMed, PubMed, PubMed]; CircCOL1A1 promotes proliferation, migration, and invasion of colorectal cancer (CRC) cells and glutamine metabolism through GLS1 up-regulation by sponging miR-214-3p. Publication Status: Online-Only, [RefSeq, PubMed]; Glutaminase potentiates the glycolysis in esophageal squamous cell carcinoma by interacting with PDK1., [RefSeq, PubMed]; Lacks catalytic activity., [UniProtKB, PubMed]; Pyruvate metabolism dictates fibroblast sensitivity to GLS1 inhibition during fibrogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9UL05;Q9UL06;Q9UL07;Q9UN40", "ec_number_list": [ { "id": "3.5.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.2", "type": "external" }, { "id": "6.3.4.16", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.16", "type": "external" }, { "id": "2.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.3.2", "type": "external" }, { "id": "3.5.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.2.3", "type": "external" }, { "id": "6.3.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.5.5", "type": "external" } ], "go_molecular_function": "GO:0004359 glutaminase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0006537 glutamate biosynthetic process;GO:0006543 L-glutamine catabolic process;GO:0090461 intracellular glutamate homeostasis;GO:0006541 glutamine metabolic process", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "O94925-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92637-1", "uniprot_id": [ { "id": "FCGRB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92637", "type": "external" } ], "mass": 32232.0, "length": 280, "protein_name": "Putative high affinity immunoglobulin gamma Fc receptor IB", "gene_name": "FCGR1BP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FCGR1BP; FCGR1B; IGFRB", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative high affinity immunoglobulin gamma Fc receptor IB; Fc gamma receptor IB pseudogene; Fc-gamma RIB; FcRIB; IgG Fc receptor IB; hFcgammaRIB", "protein_names_refseq": "", "tax_id": 9606, "disease": "retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (R-HSA-1236978); (R-HSA-877300)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10067896;10986460;11972023;12040185;12061891;12438563;12446674;12915721;1396683;1402657;1430234;14586410;14722222;1508672;15143187;15322115;15388922;15530433;15592474;16237089;16467876;16818754;17125875;18249105;18362138;18591661;19317650;20028659;20049711;20130243;20304997;20363976;23061660;24417533;33043033;33239784;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;8697799;9111318;9143706;9881690", "class_list": "", "function": "May bind to the Fc region of immunoglobulins gamma with a low affinity compared to FCGR1A. May function in the humoral immune response., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q7KZ13;Q92638", "ec_number_list": [], "go_molecular_function": "GO:0019864 IgG binding;GO:0019763 immunoglobulin receptor activity;GO:0019770 IgG receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0030669 clathrin-coated endocytic vesicle membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0050766 positive regulation of phagocytosis;GO:0032760 positive regulation of tumor necrosis factor production;GO:0001788 antibody-dependent cellular cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q92637-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVA6-1", "uniprot_id": [ { "id": "FICD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVA6", "type": "external" } ], "mass": 51778.0, "length": 458, "protein_name": "Protein adenylyltransferase FICD", "gene_name": "FICD", "organism": "Human", "refseq_name": "protein adenylyltransferase FICD", "refseq_ac": [ { "id": "NP_009007", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009007", "type": "external" } ], "gene_names_uniprotkb": "FICD; HIP13; HYPE; PRO9857", "gene_names_refseq": "FICD; HIP13; HYPE; SPG92; UNQ3041", "protein_names_uniprotkb": "Protein adenylyltransferase FICD; 2.7.7.108; 3.1.4.-; AMPylator FICD; De-AMPylase FICD; FIC domain-containing protein; HIP-13; Huntingtin yeast partner E; Huntingtin-interacting protein 13; Huntingtin-interacting protein E", "protein_names_refseq": "AMPylator FICD; FIC domain containing; FIC domain-containing protein; HIP-13; Huntingtin interacting protein E; adenosine monophosphate-protein transferase FICD; de-AMPylase FICD; fic S-phase protein cell division homolog; huntingtin interactor protein E; huntingtin yeast partner E; huntingtin-interacting protein 13; huntingtin-interacting protein E; protein adenylyltransferase FICD", "tax_id": 9606, "disease": "hereditary spastic paraplegia 92 (Disease Ontology:DOID:0070644); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:11153)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;19362538;22266942;24190977;25418920;25435325;25601083;26992070;28832583;28834231;28904123;29242379;29393594;30429286;31217245;31611695;31844290;31848261;32157095;32350084;32938616;32992526;33592498;33893288;33912179;33968037;34171305;34209803;34408154;34932366;35051231;35251023;36136088;37074911;9700202", "class_list": "", "function": "A Fluorescence Polarization-Based High-Throughput Screen to Identify the First Small-Molecule Modulators of the Human Adenylyltransferase HYPE/FICD. Publication Status: Online-Only, [RefSeq, PubMed]; Investigation of the Detailed AMPylated Reaction Mechanism for the Huntingtin Yeast-Interacting Protein E Enzyme HYPE. Publication Status: Online-Only, [RefSeq, PubMed]; Protein that can both mediate the addition of adenosine 5'-monophosphate (AMP) to specific residues of target proteins (AMPylation), and the removal of the same modification from target proteins (de-AMPylation), depending on the context (By similarity). The side chain of Glu-231 determines which of the two opposing activities (AMPylase or de-AMPylase) will take place (PubMed:36136088). Acts as a key regulator of the ERN1/IRE1-mediated unfolded protein response (UPR) by mediating AMPylation or de-AMPylation of HSPA5/BiP (PubMed:25601083, PubMed:36136088). In unstressed cells, acts as an adenylyltransferase by mediating AMPylation of HSPA5/BiP at 'Thr-518', thereby inactivating it (By similarity). In response to endoplasmic reticulum stress, acts as a phosphodiesterase by mediating removal of ATP (de-AMPylation) from HSPA5/BiP at 'Thr-518', leading to restore HSPA5/BiP activity (By similarity). Although it is able to AMPylate RhoA, Rac and Cdc42 Rho GTPases in vitro, Rho GTPases do not constitute physiological substrates (PubMed:19362538, PubMed:25601083)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Specificity of AMPylation of the human chaperone BiP is mediated by TPR motifs of FICD. Publication Status: Online-Only, [RefSeq, PubMed]; Structures of a deAMPylation complex rationalise the switch between antagonistic catalytic activities of FICD. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O75406", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "2.7.7.108", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.108", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" } ], "go_molecular_function": "GO:0044603 protein adenylylhydrolase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0051087 protein-folding chaperone binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:1903894 regulation of IRE1-mediated unfolded protein response;GO:0044602 protein deadenylylation;GO:0034260 negative regulation of GTPase activity;GO:0034976 response to endoplasmic reticulum stress;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9BVA6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q58DX5-1", "uniprot_id": [ { "id": "NADL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q58DX5", "type": "external" } ], "mass": 88682.0, "length": 795, "protein_name": "Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2", "gene_name": "NAALADL2", "organism": "Human", "refseq_name": "inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2", "refseq_ac": [ { "id": "NP_996898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_996898", "type": "external" } ], "gene_names_uniprotkb": "NAALADL2", "gene_names_refseq": "NAALADL2", "protein_names_uniprotkb": "Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2; NAALADase L2", "protein_names_refseq": "N-acetylated alpha-linked acidic dipeptidase 2; NAALADase L2; glutamate carboxypeptidase II-type non-peptidase homologue; inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:254827)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15168106;18083107;19132087;23481700;24240687;24275569;28045058;28228285;29242379;29741879;29769354;31092671;31844290;32938616;35051231;37074911", "class_list": "", "function": "Data suggest that changes in expression of N-acetyl-L-aspartyl-L-glutamate peptidase-like 2 (NAALADL2) can impact upon a number of pro-oncogenic pathways and processes, making it a useful biomarker for both diagnosis and prognosis., [RefSeq, PubMed]; GWAS showed intestinal Behcet's disease-specific associations with YIPF7 gene locus rs6838327. Down-regulation of YIPF7 expression was associated with exacerbating intestinal inflammatory responses both in vitro and in vivo. Publication Status: Online-Only, [RefSeq, PubMed]; May be catalytically inactive., [UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q658X9;Q6H9J8;Q6H9J9;Q6PG38", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q58DX5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N441-1", "uniprot_id": [ { "id": "FGRL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N441", "type": "external" } ], "mass": 54537.0, "length": 504, "protein_name": "Fibroblast growth factor receptor-like 1", "gene_name": "FGFRL1", "organism": "Human", "refseq_name": "fibroblast growth factor receptor-like 1 precursor", "refseq_ac": [ { "id": "NP_001004356", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004356", "type": "external" } ], "gene_names_uniprotkb": "FGFRL1; FGFR5; FHFR; PRO943", "gene_names_refseq": "FGFR-5; FGFR5; FGFRL1; FHFR", "protein_names_uniprotkb": "Fibroblast growth factor receptor-like 1; FGF homologous factor receptor; FGF receptor-like protein 1; FGFR-5; FGFR-like protein; Fibroblast growth factor receptor 5", "protein_names_refseq": "FGF homologous factor receptor; FGF receptor-like protein 1; FGFR-like protein; fibroblast growth factor receptor 5; fibroblast growth factor receptor-like 1 precursor", "tax_id": 9606, "disease": "Wolf-Hirschhorn syndrome (Disease Ontology:DOID:0050460); von Hippel-Lindau disease (Disease Ontology:DOID:14175); bipolar disorder (Disease Ontology:DOID:3312); schizophrenia (Disease Ontology:DOID:5419); amphetamine abuse (Disease Ontology:DOID:670); cocaine abuse (Disease Ontology:DOID:809)", "pathway": " (hsa:53834); (R-HSA-5658623)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10.1101/2023.09.13.557529;11031111;11237011;11267671;11418238;12813049;12975309;15340161;18061161;19715689;19920134;21616146;22432025;22802525;23090970;23112089;23640895;24026051;24190977;24715725;29242379;29741879;30429286;31848261;32157095;32350084;33085242;33443296;33592498;33968037;34087483;35051231;35251023;35980984;37062273;37116156", "class_list": "", "function": "Aberrant Expression of FGFRL1 in Esophageal Cancer and Its Regulation by miR-107. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of miR-210-3p Attenuates High Glucose-Induced Angiogenesis of Vascular Endothelial Cells via Targeting FGFRL1., [RefSeq, PubMed]; Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans., [RefSeq, PubMed]; FGFRL1 and FGF genes are associated with height, hypertension, and osteoporosis. Publication Status: Online-Only, [RefSeq, PubMed]; Has a negative effect on cell proliferation., [UniProtKB]; The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; [Expression of fibroblast growth factor receptor like 1 protein in oral squamous cell carcinoma and its influence on tumor cell proliferation and migration]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 5, "disease_count": 6, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RAU9;Q6PJN1;Q9BXN7;Q9H4D7", "ec_number_list": [], "go_molecular_function": "GO:0005007 fibroblast growth factor receptor activity;GO:0008201 heparin binding;GO:0042802 identical protein binding;GO:0017134 fibroblast growth factor binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0030133 transport vesicle;GO:0044291 cell-cell contact zone", "go_biological_process": "GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q8N441-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZQN5-1", "uniprot_id": [ { "id": "FOXI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZQN5", "type": "external" } ], "mass": 32979.0, "length": 318, "protein_name": "Forkhead box protein I2", "gene_name": "FOXI2", "organism": "Human", "refseq_name": "forkhead box protein I2", "refseq_ac": [ { "id": "NP_997309", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997309", "type": "external" } ], "gene_names_uniprotkb": "FOXI2", "gene_names_refseq": "FOXI2", "protein_names_uniprotkb": "Forkhead box protein I2", "protein_names_refseq": "forkhead box protein I2; homolog of mouse Foxi2", "tax_id": 9606, "disease": "", "pathway": " (hsa:399823)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "31848261;35051231", "class_list": "", "function": "Possible transcriptional activator., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6ZQN5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7M9-1", "uniprot_id": [ { "id": "GALT5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7M9", "type": "external" } ], "mass": 106266.0, "length": 940, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 5", "gene_name": "GALNT5", "organism": "Human", "refseq_name": "polypeptide N-acetylgalactosaminyltransferase 5 isoform 2", "refseq_ac": [ { "id": "NP_001316797", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316797", "type": "external" } ], "gene_names_uniprotkb": "GALNT5", "gene_names_refseq": "GALNAC-T5; GALNACT5; GALNT5", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 5; 2.4.1.41; GalNAc-T5; Polypeptide GalNAc transferase 5; Protein-UDP acetylgalactosaminyltransferase 5; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 5; pp-GaNTase 5", "protein_names_refseq": "UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 5; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5); polypeptide GalNAc transferase 5; polypeptide N-acetylgalactosaminyltransferase 5 isoform 2; pp-GaNTase 5; protein-UDP acetylgalactosaminyltransferase 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:11227); (R-HSA-913709)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10330415;10430883;10545594;10753916;11042166;11283017;11304796;11821425;12855678;1329093;14702039;15486459;15489334;15560372;15620693;16959974;17113861;18537974;19690332;21269460;22183981;22869377;23090970;23186163;23584533;24190977;24619076;24643043;25813380;27846572;28218747;28533224;29557506;29743591;29786170;30429286;31611695;31844290;32157095;32350084;32938616;33592498;33968037;35051231;35251023;35494241;35580925;36284347;38665916;39433745;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward EA2 peptide substrate, but has a weak activity toward Muc2 or Muc1b substrates (By similarity)., [UniProtKB]; MiR-196b-5p inhibition led to significantly increased colorectal cancer cell migration/invasion and metastases formation in mice, whereas ectopic overexpression showed the opposite phenotype. Molecular profiling and target confirmation identified an interaction between miR-196b-5p and HOXB7 and GALNT5, which in turn regulated colorectal cancer cell migration, [RefSeq, PubMed]; Of GalNAc-T5 expression in gastric cancer tissues might add some prognostic information for patients with this disease and lead to a more accurate classification under the TNM stage system, [RefSeq, PubMed]; Oncogenic GALNT5 confers FOLFIRINOX resistance via activating the MYH9/ NOTCH/ DDR axis in pancreatic ductal adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The 5'-end stem-loop motifs of GALNT5 uaRNA promoted the binding of HSP90. Erratum:[Oncogene. 2026 Feb;45(3):476-478. doi: 10.1038/s41388-025-03668-7. PMID: 41398074], [RefSeq, PubMed]; The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]., [RefSeq]; Two identified candidate O-glycoprotein biomarkers (CD44 and GalNAc-T5) circulating with the STn glycoform were further validated as being expressed in gastric cancer tissue, [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 56, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 56, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 56, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1224, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 67, "binding_glycan_count": 0, "secondary_ac_list": "A5PKZ1;Q9UGK7;Q9UHL6", "ec_number_list": [ { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:0006024 glycosaminoglycan biosynthetic process", "synthesized_glycan_count": 7434, "hit_score": 12.7, "record_id": "Q7Z7M9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000010001.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAL6-1", "uniprot_id": [ { "id": "FIBIN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAL6", "type": "external" } ], "mass": 24273.0, "length": 211, "protein_name": "Fin bud initiation factor homolog", "gene_name": "FIBIN", "organism": "Human", "refseq_name": "fin bud initiation factor homolog precursor", "refseq_ac": [ { "id": "NP_976249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976249", "type": "external" } ], "gene_names_uniprotkb": "FIBIN; PSEC0235", "gene_names_refseq": "FIBIN", "protein_names_uniprotkb": "Fin bud initiation factor homolog", "protein_names_refseq": "fin bud initiation factor homolog precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:387758)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "16303743;17196583;19834535;21615908;29557506;30429286;31154438;31848261;38697447", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The novel DNA methylation marker FIBIN suppresses non-small cell lung cancer metastasis by negatively regulating ANXA2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8TAL6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TED4-1", "uniprot_id": [ { "id": "G6PT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TED4", "type": "external" } ], "mass": 54436.0, "length": 501, "protein_name": "Glucose-6-phosphate exchanger SLC37A2", "gene_name": "SLC37A2", "organism": "Human", "refseq_name": "glucose-6-phosphate exchanger SLC37A2 isoform 2", "refseq_ac": [ { "id": "NP_001138762", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138762", "type": "external" } ], "gene_names_uniprotkb": "SLC37A2", "gene_names_refseq": "SLC37A2; SPX2; pp11662", "protein_names_uniprotkb": "Glucose-6-phosphate exchanger SLC37A2; Solute carrier family 37 member 2", "protein_names_refseq": "glucose-6-phosphate exchanger SLC37A2 isoform 2; glucose-6-phosphate exchanger SLC37A2; solute carrier family 37 (glucose-6-phosphate transporter), member 2; solute carrier family 37 (glycerol-3-phosphate transporter), member 2; sugar phosphate exchanger 2; sugar-phosphate exchange protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:219855)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;21949678;24714562;25502872;28467828;28904123;29242379;29557506;29632711;29774024;30880002;31154438;31844290;32350084;32983136;33043033;33592498;33912179;33968037;34357683;34932366;35051231;35154160;35580925", "class_list": "", "function": "Data show that SLC37A1 and SLC37A2 are endoplasmic reticulum associated, P(i)-linked antiporters, that can transport glucose-6-phosphate., [RefSeq, PubMed]; Inorganic phosphate and glucose-6-phosphate antiporter. May transport cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocate inorganic phosphate into the opposite direction. Independent of a lumenal glucose-6-phosphatase. May not play a role in homeostatic regulation of blood glucose levels., [UniProtKB, PubMed]; Using both living fish embryos and mammalian macrophages, we show that processing depends on the shrinkage and packaging of phagosomes into a unique cellular compartment, the gastrosome, with distinct molecular and ultra-structural characteristics. Loss of the transporter Slc37a2 blocks phagosomal shrinkage, resulting in the expansion of the gastrosome and the dramatic bloating of the cell., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K2P9;Q6P599;Q7Z7P8;Q8TEM2", "ec_number_list": [], "go_molecular_function": "GO:0061513 glucose 6-phosphate:phosphate antiporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0015760 glucose-6-phosphate transport;GO:0035435 phosphate ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8TED4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92915-1", "uniprot_id": [ { "id": "FGF14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92915", "type": "external" } ], "mass": 27702.0, "length": 247, "protein_name": "Fibroblast growth factor 14", "gene_name": "FGF14", "organism": "Human", "refseq_name": "fibroblast growth factor 14 isoform 1A", "refseq_ac": [ { "id": "NP_004106", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004106", "type": "external" } ], "gene_names_uniprotkb": "FGF14; FHF4", "gene_names_refseq": "FGF-14; FGF14; FHF-4; FHF4; NYS4; SCA27A; SCA27B; SCA27", "protein_names_uniprotkb": "Fibroblast growth factor 14; FGF-14; FHF-4; Fibroblast growth factor homologous factor 4", "protein_names_refseq": "fibroblast growth factor 14 isoform 1A; fibroblast growth factor homologous factor 4; nystagmus 4, congenital autosomal dominant", "tax_id": 9606, "disease": "spinocerebellar ataxia 27A (Disease Ontology:DOID:0050976); spinocerebellar ataxia 27B (Disease Ontology:DOID:0061137); endometrial cancer (Disease Ontology:DOID:1380); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2259); (R-HSA-5576892)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "11237011;11290418;12364586;12489043;1309946;14500339;15000524;15470364;16959974;17978045;18184654;19406745;21127204;21566136;21817159;22054663;22514276;23804213;25566820;26900580;30017992;32162847;35051231;36493768;36516086;38513302;38866925;38937606;39227614;8107964;8790420", "class_list": "glycogene", "function": "A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus., [RefSeq, PubMed]; A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia Erratum:[Am J Hum Genet. 2003 Apr;72(4):1078], [RefSeq, PubMed]; Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia., [RefSeq, PubMed]; Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions. Publication Status: Online-Only, [RefSeq, PubMed]; Probably involved in nervous system development and function., [UniProtKB]; The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study., [RefSeq, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 311, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86YN7;Q96QX6", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0017080 sodium channel regulator activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0007399 nervous system development;GO:0007254 JNK cascade;GO:0022008 neurogenesis", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q92915-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96P31-1", "uniprot_id": [ { "id": "FCRL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96P31", "type": "external" } ], "mass": 80856.0, "length": 734, "protein_name": "Fc receptor-like protein 3", "gene_name": "FCRL3", "organism": "Human", "refseq_name": "Fc receptor-like protein 3 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001307262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307262", "type": "external" } ], "gene_names_uniprotkb": "FCRL3; FCRH3; IFGP3; IRTA3; SPAP2", "gene_names_refseq": "CD307c; FCRH3; FCRL3; IFGP3; IRTA3; MAIA; SPAP2", "protein_names_uniprotkb": "Fc receptor-like protein 3; Fc receptor homolog 3; FcR-like protein 3; FcRH3; FcRL3; IFGP family protein 3; Immune receptor translocation-associated protein 3; MAIA; SH2 domain-containing phosphatase anchor protein 2; hIFGP3", "protein_names_refseq": "Fc receptor homolog 3; Fc receptor-like protein 3 isoform 3 precursor; IFGP family protein 3; SH2 domain-containing phosphatase anchor protein 2; fcR-like protein 3; hIFGP3; immune receptor translocation-associated protein 3; immunoglobulin superfamily receptor translocation associated protein 3", "tax_id": 9606, "disease": "rheumatoid arthritis (Disease Ontology:DOID:7148)", "pathway": " (hsa:115352)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;11493702;11929751;12051764;15838509;16176992;16384851;16476711;16849395;16859508;16959974;17133579;17179172;17763442;19494275;19843936;20190142;22392608;23481700;23857366;24190977;25862376;26629249;26746625;26992070;27600516;29242379;29557506;29632711;29789417;31844290;32350084;32387766;32983136;33597097;33936100;34087483;34171305;35051231;35561310;36070373;36241641;36905404;38381819;38461541;39076991", "class_list": "", "function": "Expression profile of Fc receptor-like molecules in patients with IgA nephropathy., [RefSeq, PubMed]; FCRL3 expression is upregulated and closely correlates with TIGIT expression in regulatory T cells of patients with systemic lupus erythematosus., [RefSeq, PubMed]; Integrated analyses of single-cell transcriptome and Mendelian randomization reveal the protective role of FCRL3 in multiple sclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular cloning and characterization of SPAP2, [RefSeq, PubMed]; No evidence for a direct extracellular interaction between human Fc receptor-like 3 (MAIA) and the sperm ligand IZUMO1., [RefSeq, PubMed]; Promotes TLR9-induced B-cell proliferation, activation and survival but inhibits antibody production and suppresses plasma cell differentiation. Enhances activation of NF-kappa-B and MAPK signaling pathways in TLR9 stimulated B-cells (PubMed:23857366). Has inhibitory potentional on B-cell receptor (BCR)-mediated signaling, possibly through association with SH2 domain-containing phosphatases. Inhibits cell tyrosine phosphorylation, calcium mobilization and activation-induced cell death induced through BCR signaling (PubMed:19843936). Regulatory T-cells expressing FCRL3 exhibit a memory phenotype, are relatively nonresponsive to antigenic stimulation in presence of IL2 and have reduced capacity to suppress the proliferation of effector T-cells (PubMed:19494275, PubMed:20190142). Acts as a human-specific epitope on the cell surface of oocytes (oolemma) and plays a role during sperm-egg adhesion and fusion (PubMed:36070373). Interacts with the IZUMO1-IZUMO1R/JUNO sperm-egg complex and replaces IZUMO1R/JUNO as IZUMO1 receptor during fertilization, thereby permitting species-specific gamete fusion (PubMed:36070373)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Single nucleotide polymorphisms of Interleukin - 4, Interleukin-18, FCRL3 and sPLA2IIa genes and their association in pathogenesis of endometriosis., [RefSeq, PubMed]; This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains immunoreceptor-tyrosine activation motifs and immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in regulation of the immune system. Mutations in this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0N0M4;A8MTH7;D3DVD2;Q5VXZ8;Q8N6S2;Q96LA4;Q96P27;Q96P28;Q96P29;Q96P30", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0019900 kinase binding;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0009986 cell surface;GO:0009897 external side of plasma membrane;GO:0031528 microvillus membrane", "go_biological_process": "GO:0045577 regulation of B cell differentiation;GO:0090279 regulation of calcium ion import;GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q96P31-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99581-1", "uniprot_id": [ { "id": "FEV_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99581", "type": "external" } ], "mass": 25030.0, "length": 238, "protein_name": "Protein FEV", "gene_name": "FEV", "organism": "Human", "refseq_name": "protein FEV", "refseq_ac": [ { "id": "NP_059991", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059991", "type": "external" } ], "gene_names_uniprotkb": "FEV; PET1", "gene_names_refseq": "FEV; HSRNAFEV; PET-1", "protein_names_uniprotkb": "Protein FEV; Fifth Ewing variant protein; PC12 ETS domain-containing transcription factor 1; PC12 ETS factor 1; Pet-1", "protein_names_refseq": "FEV (ETS oncogene family); FEV, ETS transcription factor; PC12 ETS domain-containing transcription factor 1; fifth Ewing variant protein; protein FEV", "tax_id": 9606, "disease": "sudden infant death syndrome (Disease Ontology:DOID:9007)", "pathway": " (hsa:54738)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "12761502;15003288;15758173;15986391;17172842;17597646;27807368;28846959;31756779;31848261;32157095;33633747;35051231;35548776;9121764", "class_list": "", "function": "Analysis of transgene expression in Pet-1 null mice indicates that Pet-1 is required to maintain the activity of the Pet-1 enhancer region in a subset of serotonin (5-HT) neurons., [RefSeq, PubMed]; Ewing sarcoma with FEV gene rearrangements is a rare subset with predilection for extraskeletal locations and aggressive behavior., [RefSeq, PubMed]; FEV acts as a transcriptional repressor through its DNA-binding ETS domain and alanine-rich domain., [RefSeq, PubMed]; Functions as a transcriptional regulator. According to PubMed:12761502, it functions as a transcriptional repressor. Functions in the differentiation and the maintenance of the central serotonergic neurons. May play a role in cell growth., [UniProtKB, PubMed]; Identified FEV is unique to fetal HSCs and stably expressed in leukemic cells of prenatal origin, [RefSeq, PubMed]; This gene belongs to the ETS transcription factor family. ETS family members have a highly conserved 85-amino acid ETS domain that binds purine-rich DNA sequences. The alanine-rich C-terminus of this gene indicates that it may act as a transcription repressor. This gene is exclusively expressed in neurons of the central serotonin (5-HT) system, a system implicated in the pathogeny of such psychiatric diseases as depression, anxiety, and eating disorders. In some types of Ewing tumors, this gene is fused to the Ewing sarcoma (EWS) gene following chromosome translocations. [provided by RefSeq, Jul 2008]., [RefSeq]; This study adds to the growing evidence on the association of single- and multiple-risk variants in DRD3, DRD4, and FEV with aggressive behavior in Chinese adolescents., [RefSeq, PubMed]; Tumor Suppressor Role and Clinical Significance of the FEV Gene in Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; We showed that fev is exclusively expressed in the midline part of the human brainstem containing raphe nuclei, which also specifically expressed 5-HT transporter (sert) and tryptophan hydroxylase (tph), two markers of the 5-HT neurotransmitter system., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016607 nuclear speck;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q99581-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99853-1", "uniprot_id": [ { "id": "FOXB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99853", "type": "external" } ], "mass": 34978.0, "length": 325, "protein_name": "Forkhead box protein B1", "gene_name": "FOXB1", "organism": "Human", "refseq_name": "forkhead box protein B1", "refseq_ac": [ { "id": "NP_036314", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036314", "type": "external" } ], "gene_names_uniprotkb": "FOXB1; FKH5", "gene_names_refseq": "FKH5; FOXB1; HFKH-5", "protein_names_uniprotkb": "Forkhead box protein B1; Transcription factor FKH-5", "protein_names_refseq": "forkhead box protein B1; transcription factor FKH-5", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:27023)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "29331515;29393594;29786170;30429286;34171305;35051231;39894887", "class_list": "", "function": "Transcription factor expressed by neural progenitor cells in specific regions of the embryonic neuroepithelium. Essential for the mammillary nuclei maintenance. Negatively regulates the proliferation of oligodendrocyte progenitors and promotes oligodendrocyte maturation. Also expressed in mammary glands, plays a role in lactation, controls development of mammary glands and the inferior colliculi of the midbrain in the central nervous system that regulates the milk-ejection reflex., [UniProtKB, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O60652;O75917;Q14CL2", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008542 visual learning;GO:0021510 spinal cord development;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q99853-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSJ2-1", "uniprot_id": [ { "id": "GCP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSJ2", "type": "external" } ], "mass": 102534.0, "length": 902, "protein_name": "Gamma-tubulin complex component 2", "gene_name": "TUBGCP2", "organism": "Human", "refseq_name": "gamma-tubulin complex component 2 isoform 1", "refseq_ac": [ { "id": "NP_001243546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243546", "type": "external" } ], "gene_names_uniprotkb": "TUBGCP2; GCP2", "gene_names_refseq": "ALP4; GCP-2; GCP2; Grip103; PAMDDFS; SPBC97; SPC97; Spc97p; TUBGCP2; h103p; hGCP2; hSpc97", "protein_names_uniprotkb": "Gamma-tubulin complex component 2; GCP-2; Gamma-ring complex protein 103 kDa; Spindle pole body protein Spc97 homolog; h103p; hGCP2; hGrip103; hSpc97", "protein_names_refseq": "gamma-ring complex protein 103 kDa; gamma-tubulin complex component 2 isoform 1; gamma-tubulin complex component 2; hGrip103; spindle pole body protein Spc97 homolog; tubulin gamma complex associated protein 2", "tax_id": 9606, "disease": "complex cortical dysplasia with other brain malformations 15 (Disease Ontology:DOID:0081266)", "pathway": " (hsa:10844); (R-HSA-380270); (R-HSA-380320)", "pathway_count": 3, "publication_count": 98, "publication_id_list": "11237011;11956313;12221128;14654843;14759258;15592455;16462731;20068231;23481700;23886939;23921553;24714562;25576301;25645385;25880248;25892735;26154972;26213385;26375851;26728094;26992070;27397612;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28510447;28832583;28834231;28855257;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;30315122;30429286;30484775;30779550;31154438;31222486;31530632;31630790;31844290;31848261;31937595;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34357683;34509645;34561969;34725712;34932366;35051231;35318648;35580925;35705054;36010968;36284347;36581221;37938771;38305685;38609661;39321809;39894887;7769006;7790358;8838651;9566967", "class_list": "", "function": "Authors show genetically that GCP3/Spc98 function is fully conserved with Alp6 across species but that functional differences exist between GCP2/Spc97 and Alp4., [RefSeq, PubMed]; Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation (PubMed:38305685, PubMed:38609661, PubMed:39321809, PubMed:9566967). The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation (PubMed:38305685, PubMed:38609661, PubMed:39321809). Plays a role in neuronal migration (PubMed:31630790)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation. The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation. Plays a role in neuronal migration., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Pathogenic variants in TUBGCP2 cause an autosomal recessive neurodevelopmental trait consisting of a neuronal migration disorder., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DM18;B7ZKL8;F5H4E0;F5H4L0;O43632;Q5VWX7", "ec_number_list": [], "go_molecular_function": "GO:0043015 gamma-tubulin binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005829 cytosol;GO:0016020 membrane;GO:0005815 microtubule organizing center", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0001764 neuron migration;GO:0007420 brain development;GO:0007020 microtubule nucleation;GO:0051225 spindle assembly", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q9BSJ2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP62-1", "uniprot_id": [ { "id": "GCM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP62", "type": "external" } ], "mass": 49268.0, "length": 436, "protein_name": "Chorion-specific transcription factor GCMa", "gene_name": "GCM1", "organism": "Human", "refseq_name": "chorion-specific transcription factor GCMa", "refseq_ac": [ { "id": "NP_003634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003634", "type": "external" } ], "gene_names_uniprotkb": "GCM1; GCMA", "gene_names_refseq": "GCM1; GCMA; hGCMa", "protein_names_uniprotkb": "Chorion-specific transcription factor GCMa; GCM motif protein 1; Glial cells missing homolog 1; hGCMa", "protein_names_refseq": "GCM motif protein 1; chorion-specific transcription factor GCMa; glial cells missing homolog 1; glial cells missing transcription factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8521)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10542267;11071865;12397062;18160678;18703417;19219068;19416964;20855292;21791615;22206674;27917469;30379171;33664222;34024123;35338152;36442132;8962155", "class_list": "", "function": "Aberrant Gcm1 expression mediates Wnt/beta-catenin pathway activation in folate deficiency involved in neural tube defects. Publication Status: Online-Only, [RefSeq, PubMed]; Functional antagonism between DeltaNp63alpha and GCM1 regulates human trophoblast stemness and differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; GCMa regulates the syncytin-mediated trophoblastic fusion in human cells, [RefSeq, PubMed]; Induction of the PPARgamma (Peroxisome Proliferator-Activated Receptor gamma)-GCM1 (Glial Cell Missing 1) Syncytialization Axis Reduces sFLT1 (Soluble fms-Like Tyrosine Kinase 1) in the Preeclamptic Placenta., [RefSeq, PubMed]; The multifaceted role of GCM1 during trophoblast differentiation in the human placenta. Erratum:[Proc Natl Acad Sci U S A. 2023 Feb 7;120(6):e2300603120. doi: 10.1073/pnas.2300603120. PMID: 36730209], [RefSeq, PubMed]; This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor involved in the control of expression of placental growth factor (PGF) and other placenta-specific genes (PubMed:10542267, PubMed:18160678). Binds to the trophoblast-specific element 2 (TSE2) of the aromatase gene enhancer (PubMed:10542267). Binds to the SYDE1 promoter (PubMed:27917469). Has a central role in mediating the differentiation of trophoblast cells along both the villous and extravillous pathways in placental development (PubMed:19219068)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4VAQ7;Q5T0X0;Q99468;Q9P1X3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042826 histone deacetylase binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0060706 cell differentiation involved in embryonic placenta development;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9NP62-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NY12-1", "uniprot_id": [ { "id": "GAR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NY12", "type": "external" } ], "mass": 22348.0, "length": 217, "protein_name": "H/ACA ribonucleoprotein complex subunit 1", "gene_name": "GAR1", "organism": "Human", "refseq_name": "H/ACA ribonucleoprotein complex subunit 1", "refseq_ac": [ { "id": "NP_061856", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061856", "type": "external" } ], "gene_names_uniprotkb": "GAR1; NOLA1", "gene_names_refseq": "GAR1; NOLA1", "protein_names_uniprotkb": "H/ACA ribonucleoprotein complex subunit 1; Nucleolar protein family A member 1; snoRNP protein GAR1", "protein_names_refseq": "GAR1 homolog, ribonucleoprotein; GAR1 ribonucleoprotein homolog; H/ACA ribonucleoprotein complex subunit 1; nucleolar protein family A member 1; nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs); snoRNP protein GAR1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54433); (R-HSA-171319); (R-HSA-174430); (R-HSA-6790901)", "pathway_count": 4, "publication_count": 107, "publication_id_list": "10606270;10757788;11081632;11509230;11790298;11935223;11978965;12244096;12417735;12699629;15044956;15060173;15189140;15199136;16314528;16339074;16381836;16522649;16782898;17172855;17395830;17636026;18358808;18523010;19033376;19179534;19383767;19463982;19734544;19854130;20047967;20068231;20351177;20404094;20524933;20639858;22579284;22871736;23103865;23391857;23657261;23707062;24086612;25128433;25271372;25411247;25525153;25576301;25620558;25645385;25653167;25851604;25880248;26085946;26196125;26992070;27084949;28228285;28334750;28832583;28834231;28904123;29178645;29242379;29493099;29557506;29695869;29774655;29786170;30026550;30315122;30429286;30444036;30779550;31154438;31222486;31723267;31844290;32157095;32350084;32357974;32502341;32983136;33526451;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34932366;35251023;35561310;35580925;36010968;36284347;37938771;39990658;6693436;9211966;9512526", "class_list": "", "function": "Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme., [UniProtKB, PubMed, PubMed]; SUMOylation- and GAR1-Dependent Regulation of Dyskerin Nuclear and Subnuclear Localization. Publication Status: Online-Only, [RefSeq, PubMed]; The deregulated expression and function of H/ACA snoRNPs may underlie specific pathological features of human disease., [RefSeq, PubMed]; This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The encoded protein of this gene contains two glycine- and arginine-rich domains and is related to Saccharomyces cerevisiae Gar1p. Two splice variants have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5MJQ2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0034513 box H/ACA snoRNA binding;GO:0070034 telomerase RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0001650 fibrillar center;GO:0005697 telomerase holoenzyme complex;GO:0031429 box H/ACA snoRNP complex;GO:0072589 box H/ACA scaRNP complex", "go_biological_process": "GO:0007004 telomere maintenance via telomerase;GO:0000454 snoRNA guided rRNA pseudouridine synthesis", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q9NY12-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y261-1", "uniprot_id": [ { "id": "FOXA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y261", "type": "external" } ], "mass": 48306.0, "length": 457, "protein_name": "Hepatocyte nuclear factor 3-beta", "gene_name": "FOXA2", "organism": "Human", "refseq_name": "hepatocyte nuclear factor 3-beta isoform 1", "refseq_ac": [ { "id": "NP_068556", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068556", "type": "external" } ], "gene_names_uniprotkb": "FOXA2; HNF3B; TCF3B", "gene_names_refseq": "FOXA2; HNF-3-beta; HNF3B; TCF3B", "protein_names_uniprotkb": "Hepatocyte nuclear factor 3-beta; Forkhead box protein A2; HNF-3-beta; HNF-3B; TCF-3B; Transcription factor 3B", "protein_names_refseq": "forkhead box protein A2; hepatic nuclear factor-3-beta; hepatocyte nuclear factor 3-beta isoform 1; hepatocyte nuclear factor 3-beta; transcription factor 3B", "tax_id": 9606, "disease": "lung non-small cell carcinoma (Disease Ontology:DOID:3908); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:3170); (R-HSA-210745); (R-HSA-9764790); (R-HSA-9796292); (R-HSA-9823730); (R-HSA-9925561); (R-HSA-9925563); (R-HSA-9937080)", "pathway_count": 8, "publication_count": 44, "publication_id_list": "10441331;10672453;10899756;14500912;15737987;15949766;17204604;19478084;19564924;19919681;21245162;21630377;21741376;21855631;22196886;23481700;24275569;25502872;25576301;25843708;26015544;27705785;29242379;30206221;30542730;30629940;30833945;31840817;31957176;31998317;32157095;32795420;33141586;33968037;34171305;35051231;35580925;35798741;36420658;38072043;38141134;38252148;38605124;38851846", "class_list": "", "function": "Analysis of GATA3 and FOXA2 expression suggests that downregulation of genes involved in the maintenance of a mature yolk sac tumor phenotype may underlie sarcomatoid transformation., [RefSeq, PubMed]; Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements., [RefSeq, PubMed]; FOXA2 activates HIF2alpha expression to promote tumor progression and is regulated by the E3 ubiquitin ligase VHL in renal cell carcinoma., [RefSeq, PubMed]; FOXA2 rewires AP-1 for transcriptional reprogramming and lineage plasticity in prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; FOXA2-initiated transcriptional activation of INHBA induced by methylmalonic acid promotes pancreatic neuroendocrine neoplasm progression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]., [RefSeq]; Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity). In embryonic development is required for notochord formation. Involved in the development of multiple endoderm-derived organ systems such as the liver, pancreas and lungs; FOXA1 and FOXA2 seem to have at least in part redundant roles. Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis; regulates the expression of genes important for glucose sensing in pancreatic beta-cells and glucose homeostasis. Involved in regulation of fat metabolism. Binds to fibrinogen beta promoter and is involved in IL6-induced fibrinogen beta transcriptional activation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8WUW4;Q96DF7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0019904 protein domain specific binding;GO:0003714 transcription corepressor activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0001708 cell fate specification;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008344 adult locomotory behavior", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9Y261-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0PJY2-1", "uniprot_id": [ { "id": "FEZF1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0PJY2", "type": "external" } ], "mass": 52038.0, "length": 475, "protein_name": "Fez family zinc finger protein 1", "gene_name": "FEZF1", "organism": "Human", "refseq_name": "fez family zinc finger protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001019784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784", "type": "external" } ], "gene_names_uniprotkb": "FEZF1; FEZ; ZNF312B", "gene_names_refseq": "FEZF1; FEZ; HH22; ZNF312B", "protein_names_uniprotkb": "Fez family zinc finger protein 1; Zinc finger protein 312B", "protein_names_refseq": "fez family zinc finger protein 1 isoform 1; fez family zinc finger protein 1; zinc finger protein 312B", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 22 with or without anosmia (Disease Ontology:DOID:0090081)", "pathway": " (hsa:389549)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;19318583;19401682;21170990;24715725;24913420;25192046;27600516;29557506;31785996;32387766;33141586;33432525;34286520;38253038", "class_list": "", "function": "Circulatinglong non-coding RNA FEZF1-AS1 and AFAP1-AS1 serve as potential diagnostic biomarkers for gastric cancer., [RefSeq, PubMed]; Fezf1 and Fezf2 accomplish both independent and redundant functions across diverse tissue and cell types. [Review] Review article, [RefSeq, PubMed]; LncRNA FEZF1-AS1 promotes colorectal cancer progression through regulating the miR-363-3p/PRRX1 pathway., [RefSeq, PubMed]; Long Non-coding RNA FEZF1-AS1 Promotes Growth and Reduces Apoptosis Through Regulation of miR-363-3p/PAX6 Axis in Retinoblastoma., [RefSeq, PubMed]; Mutations in FEZF1 cause Kallmann syndrome., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Study is the first to report that ZNF312b, a novel transcription factor, was associated with tumorigenicity of gastric cancer. Erratum:[Cancer Res. 2009 May 1;69(9):4092], [RefSeq, PubMed]; The aberrant expression of ZNF312b promotes gastric tumorigenesis through epigenetic modification of its promoter region and provides a molecular mechanism for ZNF312b expression to contribute to the progression of gastric cancer., [RefSeq, PubMed]; This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]., [RefSeq]; Transcription repressor. Involved in the axonal projection and proper termination of olfactory sensory neurons (OSN). Plays a role in rostro-caudal patterning of the diencephalon and in prethalamic formation. Expression is required in OSN to cell-autonomously regulate OSN axon projections. Regulates non-cell-autonomously the layer formation of the olfactory bulb development and the interneurons. May be required for correct rostral migration of the interneuron progenitors (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0PJY3;A4D0W3;B4DUP9;B7ZM98", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008285 negative regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "A0PJY2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2A2Y4-1", "uniprot_id": [ { "id": "FRMD3_HUMAN", "url": "https://www.uniprot.org/uniprot/A2A2Y4", "type": "external" } ], "mass": 68772.0, "length": 597, "protein_name": "FERM domain-containing protein 3", "gene_name": "FRMD3", "organism": "Human", "refseq_name": "FERM domain-containing protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001231888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888", "type": "external" } ], "gene_names_uniprotkb": "FRMD3; EPB41L4O", "gene_names_refseq": "4.1O; EPB41L4O; EPB41LO; FRMD3; P410", "protein_names_uniprotkb": "FERM domain-containing protein 3; 4.1O; Band 4.1-like protein 4O; Ovary type protein 4.1", "protein_names_refseq": "FERM domain-containing protein 3 isoform 2; FERM domain-containing protein 3; band 4.1-like protein 4O; band 4.1-like protein 4; ovary type protein 4.1; protein 4.1O", "tax_id": 9606, "disease": "triple-receptor negative breast cancer (Disease Ontology:DOID:0060081); neurodevelopmental disorder with eye movement abnormalities and ataxia (Disease Ontology:DOID:0081275)", "pathway": " (hsa:257019)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;12601556;17260017;18452278;19252134;20460425;21698141;23434934;24715725;26909942;26992070;28832583;29393594;29557506;29786170;32157095;32897882;34865205;35051231;35318648;36631457;37938771", "class_list": "", "function": "FRMD3 inhibits the growth and metastasis of breast cancer through the ubiquitination-mediated degradation of vimentin and subsequent impairment of focal adhesion. Publication Status: Online-Only, [RefSeq, PubMed]; Hsa-miR-3651 could serve as a novel predictor for in-breast recurrence via FRMD3., [RefSeq, PubMed]; Identify FRMD3 as a novel putative tumour suppressor gene suggesting an important role in the origin and progression of lung cancer., [RefSeq, PubMed]; Model for FRMD3 in diabetic nephropathy proposes a possible transcriptional link through which the polymorphism in the FRMD3 promoter could influence transcriptional regulation within the bone morphogenetic protein (BMP)-signaling pathway, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer., [UniProtKB, PubMed]; The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; The risk (G and C) and non-risk (C and T) allele frequencies of the SNPs at the rs1888747 and rs739401 loci of FRMD3 and CARS, respectively, did not differ significantly between the diabetics with (case) and without (control) nephropathy (P > 0.05). Publication Status: Online-Only, [RefSeq, PubMed]; These analyses reveal a role for FRMD3 in AA T2DN susceptibility., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MQB0;B4DN14;Q53EP2;Q5JV59;Q5VZA1;Q86WP8;Q8IZ44;Q8N3Y5;Q8N9L2", "ec_number_list": [], "go_molecular_function": "GO:0008092 cytoskeletal protein binding", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:0031032 actomyosin structure organization", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "A2A2Y4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A5D6W6-1", "uniprot_id": [ { "id": "FITM1_HUMAN", "url": "https://www.uniprot.org/uniprot/A5D6W6", "type": "external" } ], "mass": 32207.0, "length": 292, "protein_name": "Fat storage-inducing transmembrane protein 1", "gene_name": "FITM1", "organism": "Human", "refseq_name": "fat storage-inducing transmembrane protein 1", "refseq_ac": [ { "id": "NP_981947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_981947", "type": "external" } ], "gene_names_uniprotkb": "FITM1; FIT1", "gene_names_refseq": "FIT1; FITM1", "protein_names_uniprotkb": "Fat storage-inducing transmembrane protein 1; Fat-inducing protein 1", "protein_names_refseq": "fat storage-inducing transmembrane protein 1; fat-inducing protein 1; fat-inducing transcript 1", "tax_id": 9606, "disease": "Siddiqi syndrome (Disease Ontology:DOID:0081273); lipid metabolism disorder (Disease Ontology:DOID:3146)", "pathway": " (hsa:161247); (R-HSA-8964572)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "17311113;18160536;19843876;20624928;22106267;24519944;25028495;26322308;26515554;29242379;29557506;31844290;35051231", "class_list": "", "function": "Plays an important role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (By similarity) (PubMed:18160536). Directly binds to diacylglycerol (DAGs) and triacylglycerol (By similarity)., [UniProtKB, PubMed, HAMAP]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8IUQ7", "ec_number_list": [], "go_molecular_function": "GO:0017129 triglyceride binding;GO:0019992 diacylglycerol binding;GO:0010945 coenzyme A diphosphatase activity;GO:0170007 endoplasmic reticulum-lipid droplet tether activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0045444 fat cell differentiation;GO:0019915 lipid storage;GO:0034389 lipid droplet organization;GO:0008654 phospholipid biosynthetic process;GO:0140042 lipid droplet formation", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "A5D6W6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGK3-1", "uniprot_id": [ { "id": "GAG10_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGK3", "type": "external" } ], "mass": 12704.0, "length": 116, "protein_name": "G antigen 10", "gene_name": "GAGE10", "organism": "Human", "refseq_name": "G antigen 10", "refseq_ac": [ { "id": "NP_001091883", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091883", "type": "external" } ], "gene_names_uniprotkb": "GAGE10", "gene_names_refseq": "GAGE-10; GAGE10", "protein_names_uniprotkb": "G antigen 10; GAGE-10", "protein_names_refseq": "G antigen 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:102724473)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "18179644", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NGK3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B3EWG5-1", "uniprot_id": [ { "id": "FM25C_HUMAN", "url": "https://www.uniprot.org/uniprot/B3EWG5", "type": "external" } ], "mass": 9320.0, "length": 89, "protein_name": "Protein FAM25C", "gene_name": "FAM25C", "organism": "Human", "refseq_name": "protein FAM25C", "refseq_ac": [ { "id": "NP_001131020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131020", "type": "external" } ], "gene_names_uniprotkb": "FAM25C", "gene_names_refseq": "FAM25C; bA164N7.4", "protein_names_uniprotkb": "Protein FAM25C", "protein_names_refseq": "protein FAM25C; protein FAM25", "tax_id": 9606, "disease": "", "pathway": " (hsa:100133093); (hsa:643161); (hsa:644054)", "pathway_count": 3, "publication_count": 1, "publication_id_list": "32938616", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RV02;Q5VTM1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "B3EWG5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2WGN9-1", "uniprot_id": [ { "id": "GAB4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2WGN9", "type": "external" } ], "mass": 62367.0, "length": 574, "protein_name": "GRB2-associated-binding protein 4", "gene_name": "GAB4", "organism": "Human", "refseq_name": "GRB2-associated-binding protein 4 isoform 1", "refseq_ac": [ { "id": "NP_001032903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032903", "type": "external" } ], "gene_names_uniprotkb": "GAB4", "gene_names_refseq": "GAB4", "protein_names_uniprotkb": "GRB2-associated-binding protein 4; GAB2-like; GRB2-associated binder 2-like; GRB2-associated binder 4; GRB2-associated-binding protein 2-like; Growth factor receptor bound protein 2-associated protein 4", "protein_names_refseq": "GRB2-associated binder 2-like protein; GRB2-associated binder 4; GRB2-associated-binding protein 4 isoform 1; GRB2-associated-binding protein 4; growth factor receptor bound protein 2-associated protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:128954)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18477386;28832583;29242379;31844290;35051231;37217939", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q2WGN9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15552-1", "uniprot_id": [ { "id": "FFAR2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15552", "type": "external" } ], "mass": 37144.0, "length": 330, "protein_name": "Free fatty acid receptor 2", "gene_name": "FFAR2", "organism": "Human", "refseq_name": "free fatty acid receptor 2", "refseq_ac": [ { "id": "NP_005297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297", "type": "external" } ], "gene_names_uniprotkb": "FFAR2; FFA2; GPCR43; GPR43", "gene_names_refseq": "FFA2R; FFAR2; GPR43", "protein_names_uniprotkb": "Free fatty acid receptor 2; G protein-coupled receptor 43", "protein_names_refseq": "G-protein coupled receptor 43; fatty acid receptor 2; free fatty acid activated receptor 2; free fatty acid receptor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:2867); (R-HSA-416476); (R-HSA-444209)", "pathway_count": 3, "publication_count": 53, "publication_id_list": "10191087;10567430;10727532;10861009;11015615;11742120;11753430;12120503;12496283;12496284;12684041;12711604;15951850;16182515;16268778;16339447;16754659;16923326;18434541;18515384;18577758;18801738;18936096;1905813;20837008;21037097;21216233;21712392;23066016;23589301;27846572;27920218;2841328;28904123;29242379;29393594;3086311;31530632;32265295;32357974;33298915;34357683;35580925;36284347;38224777;38622672;38788249;38932276;7937899;8664309;9305846;9344866;9770463", "class_list": "", "function": "Disordered GPR43/NLRP3 expression in peripheral leukocytes of patients with atrial fibrillation is associated with intestinal short chain fatty acids levels. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of free fatty acid receptor 2 in normal and neoplastic tissues., [RefSeq, PubMed]; FFA2R is expressed on leukocytes and activated by short-chain fatty acids., [RefSeq, PubMed]; G protein-coupled receptor that is activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that plays a role in the regulation of whole-body energy homeostasis and in intestinal immunity. In omnivorous mammals, the short chain fatty acids acetate, propionate and butyrate are produced primarily by the gut microbiome that metabolizes dietary fibers. SCFAs serve as a source of energy but also act as signaling molecules. That G protein-coupled receptor is probably coupled to the pertussis toxin-sensitive, G(i/o)-alpha family of G proteins but also to the Gq family (PubMed:12496283, PubMed:12711604, PubMed:23589301). Its activation results in the formation of inositol 1,4,5-trisphosphate, the mobilization of intracellular calcium, the phosphorylation of the MAPK3/ERK1 and MAPK1/ERK2 kinases and the inhibition of intracellular cAMP accumulation. May play a role in glucose homeostasis by regulating the secretion of GLP-1, in response to short-chain fatty acids accumulating in the intestine. May also regulate the production of LEP/Leptin, a hormone acting on the central nervous system to inhibit food intake. Finally, may also regulate whole-body energy homeostasis through adipogenesis regulating both differentiation and lipid storage of adipocytes. In parallel to its role in energy homeostasis, may also mediate the activation of the inflammatory and immune responses by SCFA in the intestine, regulating the rapid production of chemokines and cytokines. May also play a role in the resolution of the inflammatory response and control chemotaxis in neutrophils. In addition to SCFAs, may also be activated by the extracellular lectin FCN1 in a process leading to activation of monocytes and inducing the secretion of interleukin-8/IL-8 in response to the presence of microbes (PubMed:21037097). Among SCFAs, the fatty acids containing less than 6 carbons, the most potent activators are probably acetate, propionate and butyrate (PubMed:12496283, PubMed:12711604). Exhibits a SCFA-independent constitutive G protein-coupled receptor activity (PubMed:23066016)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Modulatory Roles of AHR, FFAR2, FXR, and TGR5 Gene Expression in Metabolic-Associated Fatty Liver Disease and COVID-19 Outcomes. Publication Status: Online-Only, [RefSeq, PubMed]; Short chain fatty acids inhibit corneal inflammatory responses to TLR ligands via the ocular G-protein coupled receptor 43., [RefSeq, PubMed]; The highly selective expression of GPR43 in leukocytes, particularly polymorphonuclear cells, suggests a role in the recruitment of these cell populations toward sites of bacterial infection, [RefSeq, PubMed]; This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for short chain free fatty acids and may be involved in the inflammatory response and in regulating lipid plasma levels. [provided by RefSeq, Apr 2009]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B0M0J9;Q4VAZ3;Q4VAZ5;Q4VBL5", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042995 cell projection", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0032722 positive regulation of chemokine production;GO:0042593 glucose homeostasis;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0045444 fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O15552-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75084-1", "uniprot_id": [ { "id": "FZD7_HUMAN", "url": "https://www.uniprot.org/uniprot/O75084", "type": "external" } ], "mass": 63620.0, "length": 574, "protein_name": "Frizzled-7", "gene_name": "FZD7", "organism": "Human", "refseq_name": "frizzled-7 precursor", "refseq_ac": [ { "id": "NP_003498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498", "type": "external" } ], "gene_names_uniprotkb": "FZD7", "gene_names_refseq": "FZD7; FzE3", "protein_names_uniprotkb": "Frizzled-7; Fz-7; FzE3; hFz7", "protein_names_refseq": "Frizzled, drosophila, homolog of, 7; frizzled 7, seven transmembrane spanning receptor; frizzled family receptor 7; frizzled homolog 7; frizzled-7 precursor; frizzled-7; fz-7; hFz7", "tax_id": 9606, "disease": "nephroblastoma (Disease Ontology:DOID:2154)", "pathway": " (hsa:8324); (R-HSA-373080); (R-HSA-4086400); (R-HSA-4608870); (R-HSA-9673324)", "pathway_count": 5, "publication_count": 117, "publication_id_list": "10.1038/emboj.2013.79;10097073;10698942;10862746;10871633;11101902;11297558;11358862;11751577;11779461;12015986;12097334;12098667;12134165;12533515;12559132;12716910;12724779;12839624;14636582;15143170;15169958;15498814;15501440;15608632;15936275;15937478;16116452;16280981;16329988;16495441;16602827;16636067;16687519;16723543;16762923;16971168;17021034;17130287;17224074;17273804;17373907;17433286;17627283;18162551;18215320;18256687;18347018;18719708;18793328;18798527;18801728;19188438;19365405;19379695;19523939;19530173;19589360;20004982;20006983;20457807;20803696;20940229;20966082;21316585;21983142;22299025;22773843;23109420;23140627;23140633;23144463;23396967;23535009;23584533;23821037;24496449;24865425;26126266;27386966;27680706;28904123;30315122;30459171;31844290;32157095;32350084;32938616;33968037;34087483;34357683;35051231;36010968;3616618;36215666;38246919;38279460;38816349;39198452;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;8947551;9064337;9520479;9674432;9707618;9716412;9813155", "class_list": "", "function": "(Microbial infection) Acts as a receptor for C.difficile toxin TcdB in the colonic epithelium., [UniProtKB, PubMed]; HAS2 facilitates glioma cell malignancy and suppresses ferroptosis in an FZD7-dependent manner., [RefSeq, PubMed]; Mechanism of miR-548b-5p down-regulating FZD7 to impede the migratory and invasive behavior of gastric carcinoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif. FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq, Jul 2008]., [RefSeq]; Receptor for Wnt proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G proteins. Activation by WNT8 induces expression of beta-catenin target genes (By similarity). Following ligand activation, binds to CCDC88C/DAPLE which displaces DVL1 from FZD7 and leads to inhibition of canonical Wnt signaling, activation of G proteins by CCDC88C and triggering of non-canonical Wnt responses (PubMed:26126266). May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues., [UniProtKB, UniProtKB, PubMed]; Structural basis of frizzled 7 activation and allosteric regulation. Publication Status: Online-Only, [RefSeq, PubMed]; WNT7A promotes tumorigenesis of head and neck squamous cell carcinoma via activating FZD7/JAK1/STAT3 signaling. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O94816;Q53S59;Q96B74", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005109 frizzled binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0030165 PDZ domain binding;GO:0017147 Wnt-protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0043410 positive regulation of MAPK cascade;GO:0046330 positive regulation of JNK cascade;GO:0071300 cellular response to retinoic acid;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "O75084-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75474-1", "uniprot_id": [ { "id": "FRAT2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75474", "type": "external" } ], "mass": 24051.0, "length": 233, "protein_name": "GSK-3-binding protein FRAT2", "gene_name": "FRAT2", "organism": "Human", "refseq_name": "GSK-3-binding protein FRAT2", "refseq_ac": [ { "id": "NP_036215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036215", "type": "external" } ], "gene_names_uniprotkb": "FRAT2", "gene_names_refseq": "FRAT-2; FRAT2", "protein_names_uniprotkb": "GSK-3-binding protein FRAT2; FRAT-2; Frequently rearranged in advanced T-cell lymphomas 2", "protein_names_refseq": "FRAT2, WNT signaling pathway regulator; GSK-3-binding protein FRAT2; frequently rearranged in advanced T-cell lymphomas 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23401); (R-HSA-196299); (R-HSA-4641262)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10421629;10428961;10481074;10581160;10684251;10698523;11237732;11336703;11707456;11738041;11861647;11955436;12000790;12554650;14731402;15073180;15084453;15522877;15681612;16082208;16341016;16341017;16890161;17143292;17318175;17433504;17529994;17569865;18077588;18339531;18362152;18606139;19061640;19107203;19619488;19802005;20613673;21183070;21183076;21252990;23074275;23256519;27846572;27920218;29557506;35051231;36153370;9034327;9482734;9635432", "class_list": "", "function": "FRAT-2 enhances glycogen synthase kinase 3 beta-mediated phosphorylation of a primed substrate to a greater extent than an unprimed substrate, [RefSeq, PubMed]; It suggests that activation of GSK-3 inhibits PP-2A through up-regulation of I(2)(PP-2A) with hnRNP A18-involved mechanism., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Positively regulates the Wnt signaling pathway by stabilizing beta-catenin through the association with GSK-3., [UniProtKB]; The miR-3648/FRAT1-FRAT2/c-Myc negative feedback loop modulates the metastasis and invasion of gastric cancer cells., [RefSeq, PubMed]; The protein encoded by this intronless gene belongs to the GSK-3-binding protein family. Studies show that this protein plays a role as a positive regulator of the WNT signaling pathway. It may be upregulated in tumor progression. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JTI0;Q8WUL9;Q9BYG2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "O75474-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P27469-1", "uniprot_id": [ { "id": "G0S2_HUMAN", "url": "https://www.uniprot.org/uniprot/P27469", "type": "external" } ], "mass": 11321.0, "length": 103, "protein_name": "G0/G1 switch protein 2", "gene_name": "G0S2", "organism": "Human", "refseq_name": "G0/G1 switch protein 2", "refseq_ac": [ { "id": "NP_056529", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056529", "type": "external" } ], "gene_names_uniprotkb": "G0S2", "gene_names_refseq": "G0S2", "protein_names_uniprotkb": "G0/G1 switch protein 2; G0/G1 switch regulatory protein 2; Putative lymphocyte G0/G1 switch gene", "protein_names_refseq": "G0/G1 switch protein 2; G0/G1 switch regulatory protein 2; G0/G1switch 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:50486); (R-HSA-1989781)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10777541;11267664;12118000;12177166;12505311;12582161;15067378;15130092;15635043;16086669;16380219;16972786;18540824;18719978;18848529;19088433;1930693;19706769;19710929;19934321;20110263;24196956;24714562;26154972;26992070;27862975;29557506;31154438;31611695;31844290;32171335;32387766;32938616;32983136;33545927;33592498;33968037;34171305;35051231;35580925;36366842;36536477;7685352;7892212;8647822;9012850;9748239", "class_list": "", "function": "A novel putative target gene of PPARalpha, G0S2 (G0/G1 switch gene 2) was identified and characterized., [RefSeq, PubMed]; An epigenome-wide association study of posttraumatic stress disorder in US veterans implicates several new DNA methylation loci. Publication Status: Online-Only, [RefSeq, PubMed]; Gastric Cancer Growth Modulated by circSNTB2/miR-6938-5p/G0S2 and PDCD4., [RefSeq, PubMed]; Loss of G0/G1 switch gene 2 (G0S2) promotes disease progression and drug resistance in chronic myeloid leukaemia (CML) by disrupting glycerophospholipid metabolism., [RefSeq, PubMed]; Low G0S2 gene expression levels in peripheral blood may be a genetic marker of acute myocardial infarction in patients with stable coronary atherosclerotic disease: A retrospective clinical study., [RefSeq, PubMed]; Promotes apoptosis by binding to BCL2, hence preventing the formation of protective BCL2-BAX heterodimers., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6FGC8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005811 lipid droplet", "go_biological_process": "GO:2001238 positive regulation of extrinsic apoptotic signaling pathway;GO:0097191 extrinsic apoptotic signaling pathway;GO:0120162 positive regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "P27469-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28476-1", "uniprot_id": [ { "id": "GBRR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P28476", "type": "external" } ], "mass": 54151.0, "length": 465, "protein_name": "Gamma-aminobutyric acid receptor subunit rho-2", "gene_name": "GABRR2", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit rho-2 precursor", "refseq_ac": [ { "id": "NP_002034", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002034", "type": "external" } ], "gene_names_uniprotkb": "GABRR2", "gene_names_refseq": "GABRR2", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit rho-2; GABA(A) receptor subunit rho-2; GABA(C) receptor; GABAAR subunit rho-2", "protein_names_refseq": "GABA-C receptor, rho-2 subunit; GABAAR subunit rho-2; gamma-aminobutyric acid (GABA) A receptor, rho 2; gamma-aminobutyric acid receptor subunit rho-2 precursor; gamma-aminobutyric acid type A receptor rho2 subunit", "tax_id": 9606, "disease": "autistic disorder (Disease Ontology:DOID:12849); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:2570); (R-HSA-977443)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10449790;10542332;1315307;1321750;15024690;1664410;17364682;17398006;18382465;1849271;19536785;19828786;2465923;26922432;2847710;28660714;35051231;8264558;8382267;8391122;8632757;8719414;8719416", "class_list": "", "function": "GABAergic genes interacting with parenting in adolescent depressive symptoms: GABRR2 X perceived parental support interaction., [RefSeq, PubMed]; GABRR1 and GABRR2 encode the GABA-A receptor subunits rho1 and rho2 and are associated with alcohol dependence GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]., [RefSeq]; Rho subunit of the pentameric ligand-gated chloride channels responsible for mediating the effects of gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain (By similarity). Rho-containing GABA-gated chloride channels are a subclass of GABA(A) receptors (GABAARs) entirely composed of rho subunits, where GABA molecules bind at the rho intersubunit interfaces (By similarity). When activated by GABA, rho-GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (By similarity). Rho-2 GABAARs may contribute to the regulation of glial development in the cerebellum by controlling extrasynaptic transmission. Rho-2 GABAARs are also involved in neuronal tonic (extrasynaptic) and phasic (synaptic) transmission in the Purkinje neurons of the cerebellum (By similarity). Rho-2 GABAARs expressed in retina may play a role in retinal neurotransmission (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The genetic variant of GABRR2 gene contributes to the difference of individuals' general cognitive ability in a Chinese Han population., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2BDE4;Q9H153", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0004890 GABA-A receptor activity;GO:0022851 GABA-gated chloride ion channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0097708 intracellular vesicle;GO:0005886 plasma membrane;GO:0045211 postsynaptic membrane;GO:0034707 chloride channel complex", "go_biological_process": "GO:0007165 signal transduction;GO:0007268 chemical synaptic transmission;GO:1902476 chloride transmembrane transport;GO:0051932 synaptic transmission, GABAergic", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P28476-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31371-1", "uniprot_id": [ { "id": "FGF9_HUMAN", "url": "https://www.uniprot.org/uniprot/P31371", "type": "external" } ], "mass": 23441.0, "length": 208, "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "organism": "Human", "refseq_name": "fibroblast growth factor 9 precursor", "refseq_ac": [ { "id": "NP_002001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002001", "type": "external" } ], "gene_names_uniprotkb": "FGF9", "gene_names_refseq": "FGF-9; FGF9; GAF; HBFG-9; HBGF-9; SYNS3", "protein_names_uniprotkb": "Fibroblast growth factor 9; FGF-9; GAF; Glia-activating factor; HBGF-9; Heparin-binding growth factor 9", "protein_names_refseq": "fibroblast growth factor 9 (glia-activating factor); fibroblast growth factor 9 precursor; heparin-binding growth factor 9", "tax_id": 9606, "disease": "multiple synostoses syndrome (Disease Ontology:DOID:0050794); multiple synostoses syndrome 3 (Disease Ontology:DOID:0081319); lung cancer (Disease Ontology:DOID:1324); epilepsy (Disease Ontology:DOID:1826); kidney cancer (Disease Ontology:DOID:263); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); pleuropulmonary blastoma (Disease Ontology:DOID:4769)", "pathway": " (hsa:2254); (R-HSA-109704); (R-HSA-1257604); (R-HSA-1839122); (R-HSA-1839130); (R-HSA-190322); (R-HSA-190371); (R-HSA-190372); (R-HSA-190373); (R-HSA-190375); (R-HSA-2033519); (R-HSA-2219530); (R-HSA-5654219); (R-HSA-5654221); (R-HSA-5654227); (R-HSA-5654228); (R-HSA-5654687); (R-HSA-5654688); (R-HSA-5654689); (R-HSA-5654693); (R-HSA-5654695); (R-HSA-5654699); (R-HSA-5654700); (R-HSA-5654704); (R-HSA-5654706); (R-HSA-5654710); (R-HSA-5654712); (R-HSA-5654719); (R-HSA-5654720); (R-HSA-5654726); (R-HSA-5654727); (R-HSA-5654732); (R-HSA-5654733); (R-HSA-5655253); (R-HSA-5655302); (R-HSA-5655332); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-9690406)", "pathway_count": 39, "publication_count": 269, "publication_id_list": "10053006;10191262;10490103;10508167;10574949;10579907;10618369;10629055;10652257;10869344;10918587;11027663;11055896;11060292;11090077;11121055;11136978;11147812;11157491;11207191;11223514;11278460;11294897;11297579;11313946;11353842;11429702;11447289;11463336;11546808;11606067;11689702;11702783;11739186;11781872;11803464;11997436;12009017;12032311;12094235;12112473;12121613;12167717;12419216;12461689;12627230;12660731;12767043;12815057;12974390;1325671;1379698;1381348;14506247;14534538;14613973;14688794;14707138;14715624;14871245;15029211;15050920;15094036;15282208;15324302;15356145;15448205;1545823;15546878;15548653;15598814;15718470;15834429;15863029;15863030;15880580;15889150;16091734;16140923;16186508;16339315;16456541;16467200;16507368;16532037;1656221;16597617;16627759;16638743;16647110;16684964;16764984;16844695;16847462;16872596;1697263;1716764;17200115;17227708;17344846;17505008;17525745;17552943;17626883;17698633;17803937;17998941;18056464;18079394;18317450;18337450;18373495;18381441;18412956;18445271;18452557;18552176;18594509;18606717;18754654;18755892;18757403;18757432;18772890;18775330;18829560;18840094;18925875;18985070;1898771;19103595;19147536;19185485;19187780;19224897;19279408;19381019;19411071;19438505;19576174;19589401;19644473;19652666;19696444;19749790;19805105;19809159;19855393;19920141;19946327;19962665;20094046;20106510;20117945;20179196;20231295;20338997;20421966;20478380;20522708;20709759;20713702;21102635;21160078;21188471;21317208;21367659;21368164;21372320;21412441;21478295;21666749;21668414;21711248;21779497;21779505;21827948;21976531;21984976;21993244;22120714;22188813;22569528;22588880;22589270;22750304;22802530;22837387;22899867;23103841;23175443;23298836;23303910;23443682;23558953;23575685;24588013;24897931;24937142;25219551;25467007;25781681;26085527;28472341;28730625;28778966;30552336;31135801;35190498;35675358;36358989;38657094;38824534;6148751;7543144;7559490;7637810;7647778;7719344;7744773;7773297;7809086;7874169;7935463;7972015;8052307;8264585;8321227;8394845;8428960;8493579;8589699;8599935;8622701;8640234;8645157;8657148;8663044;8665852;8710374;8754806;8755573;8780727;8798788;8841188;8845844;8939933;9045692;9139660;9154000;9182757;9279753;9299490;9438390;9480847;9502772;9538690;9539778;9604935;9632781;9660748;9700203;9730987;9736715;9774680;9815658;9857065;9895304;9927426", "class_list": "glycogene", "function": "Downregulated exosome-associated gene FGF9 as a novel diagnostic and prognostic target for ovarian cancer and its underlying roles in immune regulation., [RefSeq, PubMed]; FGF9 Promotes Expression of HAS2 in Palatal Elevation via the Wnt/beta-Catenin/TCF7L2 Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Fibroblast growth factor-9 expression in airway epithelial cells amplifies the type I interferon response and alters influenza A virus pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Long non-coding RNA MEG3 knockdown represses airway smooth muscle cells proliferation and migration via sponging miR-143-3p/FGF9 in asthma. Publication Status: Online-Only, [RefSeq, PubMed]; Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of FGF9 and NOVA1 in cancer-associated fibroblasts promotes cell proliferation, invasion and migration of triple negative breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 211, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K427;Q3SY32", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0008083 growth factor activity;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade;GO:0021762 substantia nigra development", "synthesized_glycan_count": 0, "hit_score": 27.1, "record_id": "P31371-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100000000.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P98174-1", "uniprot_id": [ { "id": "FGD1_HUMAN", "url": "https://www.uniprot.org/uniprot/P98174", "type": "external" } ], "mass": 106561.0, "length": 961, "protein_name": "FYVE, RhoGEF and PH domain-containing protein 1", "gene_name": "FGD1", "organism": "Human", "refseq_name": "FYVE, RhoGEF and PH domain-containing protein 1", "refseq_ac": [ { "id": "NP_004454", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004454", "type": "external" } ], "gene_names_uniprotkb": "FGD1; FGDY; ZFYVE3", "gene_names_refseq": "AAS; FGD1; FGDY; MRXS16; ZFYVE3", "protein_names_uniprotkb": "FYVE, RhoGEF and PH domain-containing protein 1; Faciogenital dysplasia 1 protein; Rho/Rac GEF; Rho/Rac guanine nucleotide exchange factor FGD1; Zinc finger FYVE domain-containing protein 3", "protein_names_refseq": "FYVE, RhoGEF and PH domain-containing protein 1; faciogenital dysplasia 1 protein; rho/Rac GEF; rho/Rac guanine nucleotide exchange factor FGD1; zinc finger FYVE domain-containing protein 3", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability (Disease Ontology:DOID:0050776); Charcot-Marie-Tooth disease type 4H (Disease Ontology:DOID:0110192); prostate cancer (Disease Ontology:DOID:10283); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); Alzheimer's disease (Disease Ontology:DOID:10652); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); invasive ductal carcinoma (Disease Ontology:DOID:3008); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); X-linked Aarskog syndrome (Disease Ontology:DOID:6683)", "pathway": " (hsa:2245); (R-HSA-193648); (R-HSA-416482); (R-HSA-9013148)", "pathway_count": 4, "publication_count": 245, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;10930571;11007481;11058585;11085924;11093277;11149925;11283606;11294240;11306516;11313914;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11742120;11756498;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11940089;11948177;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12195014;12221096;12351724;12432077;12433842;12464619;12515866;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;14560308;14673001;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15470142;15485661;15601624;15611138;15699075;15728722;15749160;15850391;15897194;15951850;16112081;16116428;16184169;16212495;16217026;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16923326;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17599059;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18218625;18363964;18374420;18426980;18577758;18653540;18669648;18786931;18835169;18838382;18929667;19212140;19605563;19934221;20068231;20679435;21148482;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22096251;22298643;22461490;22571869;22608513;22661716;22970203;23200924;23255595;23406282;23434736;23572525;23718289;24086303;24259668;24335996;24352656;24584464;24933155;24996924;25024229;25211221;25414122;25576301;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26887924;26992070;27072905;27096001;27145964;27216196;27481945;27555588;27602141;27798618;28028151;28196833;28825699;28860633;29557506;30007591;30061681;30192525;30853411;31844290;31848261;31871319;32203420;32673397;32938616;33968037;34145742;34783295;35051231;35388608;36010968;36241641;36284347;7479768;7512369;7673236;7721814;7753201;7937899;7954831;8021274;8537347;8617235;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8969170;8994827;9013646;9113980;9268338;9305890;9308960;9405671;9438849;9490638;9497316;9520479;9659915;9670022;9796816;9829970;9843499;9846874", "class_list": "", "function": "A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly., [RefSeq, PubMed]; Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape., [UniProtKB, PubMed]; Intersection of TKS5 and FGD1/CDC42 signaling cascades directs the formation of invadopodia., [RefSeq, PubMed]; Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features., [RefSeq, PubMed]; Silencing FYVE, RhoGEF, and PH domain containing 1 (FGD1) suppresses melanoma progression by inhibiting PI3K/AKT signaling pathway., [RefSeq, PubMed]; This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5H999;Q8N4D9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0043087 regulation of GTPase activity;GO:0046847 filopodium assembly;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 24.6, "record_id": "P98174-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02643-1", "uniprot_id": [ { "id": "GHRHR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02643", "type": "external" } ], "mass": 47402.0, "length": 423, "protein_name": "Growth hormone-releasing hormone receptor", "gene_name": "GHRHR", "organism": "Human", "refseq_name": "growth hormone-releasing hormone receptor precursor", "refseq_ac": [ { "id": "NP_000814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000814", "type": "external" } ], "gene_names_uniprotkb": "GHRHR", "gene_names_refseq": "GHRFR; GHRHR; GRFR; IGHD1B; IGHD4", "protein_names_uniprotkb": "Growth hormone-releasing hormone receptor; GHRH receptor; GRF receptor; GRFR; Growth hormone-releasing factor receptor", "protein_names_refseq": "GHRH receptor; GRF receptor; growth hormone-releasing hormone receptor precursor", "tax_id": 9606, "disease": "isolated growth hormone deficiency (Disease Ontology:DOID:0060870); isolated growth hormone deficiency type IB (Disease Ontology:DOID:0060874); sleep disorder (Disease Ontology:DOID:535)", "pathway": " (hsa:2692); (R-HSA-418555); (R-HSA-420092)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "10084571;10322410;10698200;11007482;11060443;11232012;11502843;11773624;11946536;12036966;12058044;12106601;12180353;12534354;12860470;1333056;13549488;14671004;1517224;15464082;15471943;15765929;15769620;15951850;16313925;16687412;16923326;16959974;17168849;1739432;18044684;18577758;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24687066;2491850;2553411;2553705;26417854;2826231;2871555;29443750;29557506;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;35051231;37217939;37948564;3899557;6085243;6192430;6745415;7589426;7680413;7700244;7811244;7902709;8144028;8340388;8390245;8514797;8528260;8672451;9263355;9417641;9467553;9651336;9990065", "class_list": "", "function": "Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes., [RefSeq, PubMed]; Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion., [UniProtKB]; This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]., [RefSeq]; To ascertain whether (splice variant) SV1 mediates mitogenic effects on nonpituitary tissues, we expressed SV1 in 3T3 mouse fibroblasts and studied the properties of the transfected cells, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q99863", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0019838 growth factor binding;GO:0017046 peptide hormone binding;GO:0008528 G protein-coupled peptide receptor activity;GO:0016520 growth hormone-releasing hormone receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0030141 secretory granule", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0071333 cellular response to glucose stimulus;GO:0051384 response to glucocorticoid", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q02643-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06546-1", "uniprot_id": [ { "id": "GABPA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06546", "type": "external" } ], "mass": 51295.0, "length": 454, "protein_name": "GA-binding protein alpha chain", "gene_name": "GABPA", "organism": "Human", "refseq_name": "GA-binding protein alpha chain", "refseq_ac": [ { "id": "NP_001184226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184226", "type": "external" } ], "gene_names_uniprotkb": "GABPA; E4TF1A", "gene_names_refseq": "E4TF1-60; E4TF1A; GABPA; NFT2; NRF2A; NRF2; RCH04A07", "protein_names_uniprotkb": "GA-binding protein alpha chain; GABP subunit alpha; Nuclear respiratory factor 2 subunit alpha; Transcription factor E4TF1-60", "protein_names_refseq": "GA binding protein transcription factor alpha subunit 60kDa; GA-binding protein alpha chain; GABP subunit alpha; human nuclear respiratory factor-2 subunit alpha; nuclear respiratory factor 2 alpha subunit; nuclear respiratory factor 2 subunit alpha; transcription factor E4TF1-60", "tax_id": 9606, "disease": "", "pathway": " (hsa:2551); (R-HSA-2151201)", "pathway_count": 2, "publication_count": 109, "publication_id_list": "10412986;10643692;10713165;11340167;11809803;12374852;12563009;12745923;15684387;16079181;16079853;16788062;16890199;16908542;16911507;17031457;17437997;17715127;17923681;17975830;18215119;18343819;18680753;19001277;19356719;19417006;19951946;20068231;22306510;22424782;23186163;23301498;24366607;25418920;25505266;25576301;26154972;27846572;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29351928;29437277;29485866;29493099;29508533;29557506;29632711;29786170;30379171;30429286;30779550;30833945;31154438;31492838;31530632;31844290;31848261;32119511;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34306255;34561969;34725712;34932366;35051231;35132862;35138101;35254053;35549739;35580925;35705054;36241641;36284347;37938771;38665916;39489850;39531497;39534244;40307207;40596516;40914422;7629110;7799916;8108407;8333869;8441384;9178750;9286700", "class_list": "", "function": "(Microbial infection) Necessary for the expression of the Adenovirus E4 gene., [UniProtKB]; GABPA Expression in Endometrial Carcinoma: A Prognostic Marker. Publication Status: Online-Only, [RefSeq, PubMed]; GABPA inhibits tumorigenesis in clear cell renal cell carcinoma by regulating ferroptosis through ACSL4. Publication Status: Online-Only, [RefSeq, PubMed]; GABPA-activated TGFBR2 transcription inhibits aggressiveness but is epigenetically erased by oncometabolites in renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010]., [RefSeq]; Transcription factor capable of interacting with purine rich repeats (GA repeats). Positively regulates transcription of transcriptional repressor RHIT/ZNF205 (PubMed:22306510)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q12939", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0038127 ERBB signaling pathway;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007528 neuromuscular junction development;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q06546-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q10471-1", "uniprot_id": [ { "id": "GALT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q10471", "type": "external" } ], "mass": 64733.0, "length": 571, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 2", "gene_name": "GALNT2", "organism": "Human", "refseq_name": "polypeptide N-acetylgalactosaminyltransferase 2 isoform 2", "refseq_ac": [ { "id": "NP_001278795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278795", "type": "external" } ], "gene_names_uniprotkb": "GALNT2", "gene_names_refseq": "CDG2T; GALNT2; GalNAc-T2", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 2; 2.4.1.41; GalNAc-T2; Polypeptide GalNAc transferase 2; Protein-UDP acetylgalactosaminyltransferase 2; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2; pp-GaNTase 2", "protein_names_refseq": "UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2); polypeptide GalNAc transferase 2; polypeptide N-acetylgalactosaminyltransferase 2 isoform 2; pp-GaNTase 2", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIt (Disease Ontology:DOID:0051049)", "pathway": " (hsa:2590); (R-HSA-6811436); (R-HSA-913709)", "pathway_count": 3, "publication_count": 138, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10330415;10359595;10430883;10559986;10562278;10753916;11042166;11080672;11283017;11304796;11483508;11821425;12401177;12432908;12438318;12447383;12855678;12925777;1329093;14702039;15483056;15486459;15489334;15560372;15620693;15914536;16207721;16207894;16314391;16434399;16710414;17113861;17488286;17827179;18512783;18537974;18641641;18664496;19635840;19753100;20068231;20420828;21173190;21269460;22130221;22183981;22562055;23186163;23333653;23584533;23783758;24275569;24643043;24715725;24891604;24954443;25233431;25453831;25502872;25645385;25813380;25939779;25944712;26992070;27508872;27600516;28904123;29097258;29437277;29557506;30429286;30459171;31492838;31611695;31844290;32157095;32293671;32296183;32350084;32357974;32387766;32488085;32699192;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33691108;33785338;33936100;33964375;33968037;34019948;34171305;34185709;34357683;34405274;34509645;34561969;34725712;35051231;35132862;35154160;35251023;35580925;35705054;36010968;36215666;36241641;36409270;36861373;37000153;37217939;37453717;37597090;38627282;38665916;40307207;40596516;7592619;7655172;8663203;9030515;9050864;9295285;9312074;9394011;9417100;9435216;9671731;9733780;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b. Probably involved in O-linked glycosylation of the immunoglobulin A1 (IgA1) hinge region. Involved in O-linked glycosylation of APOC-III, ANGPTL3 and PLTP. It participates in the regulation of HDL-C metabolism (PubMed:27508872, PubMed:32293671)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; GALNT2 expression is associated with glucose control and serum metabolites in patients with type 2 diabetes. Erratum:[Acta Diabetol. 2024 Aug;61(8):1015. doi: 10.1007/s00592-024-02346-6. PMID: 39115727], [RefSeq, PubMed]; GALNT2 promotes invasiveness of colorectal cancer cells partly through AXL., [RefSeq, PubMed]; GALNT2 sustains glioma stem cells by promoting CD44 expression., [RefSeq, PubMed]; GALNT2, an O-glycosylating enzyme, is a critical regulator of radioresistance of non-small cell lung cancer: evidence from an integrated multi-omics analysis., [RefSeq, PubMed]; Leveraging Genetics to Address the Role of GALNT2 on Atherogenic Dyslipidemia., [RefSeq, PubMed]; This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 0, "mined_o_glycosites": 2, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 662, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A8K1Y3;B7Z8V8;C5HU00;Q9NPY4", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0030145 manganese ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:0051604 protein maturation;GO:0002639 positive regulation of immunoglobulin production", "synthesized_glycan_count": 7434, "hit_score": 15.1, "record_id": "Q10471-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010000001.110.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13066-1", "uniprot_id": [ { "id": "GAG2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13066", "type": "external" } ], "mass": 12786.0, "length": 116, "protein_name": "G antigen 2B/2C", "gene_name": "GAGE2B; GAGE2C", "organism": "Human", "refseq_name": "G antigen 2B/2C", "refseq_ac": [ { "id": "NP_001091881", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091881", "type": "external" } ], "gene_names_uniprotkb": "GAGE2B; GAGE2C; GAGE2", "gene_names_refseq": "CT4.2; GAGE-2B; GAGE-2; GAGE2B", "protein_names_uniprotkb": "G antigen 2B/2C; CT4.2; Cancer/testis antigen 4.2; G antigen 2C; GAGE-2B; GAGE-2C", "protein_names_refseq": "G antigen 2B/2C; cancer/testis antigen 4.2; g antigen 2A/2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:2574); (hsa:645037)", "pathway_count": 2, "publication_count": 3, "publication_id_list": "18179644;18669648;7544395", "class_list": "", "function": "Antigen, recognized on melanoma by autologous cytolytic T-lymphocytes., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9K0W9;Q4V322", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q13066-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13461-1", "uniprot_id": [ { "id": "FOXE3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13461", "type": "external" } ], "mass": 33234.0, "length": 319, "protein_name": "Forkhead box protein E3", "gene_name": "FOXE3", "organism": "Human", "refseq_name": "forkhead box protein E3", "refseq_ac": [ { "id": "NP_036318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036318", "type": "external" } ], "gene_names_uniprotkb": "FOXE3; FKHL12; FREAC8", "gene_names_refseq": "AAT11; ASGD2; CATC3; CTRCT34; FKHL12; FOXE3; FREAC8", "protein_names_uniprotkb": "Forkhead box protein E3; FREAC-8; Forkhead-related protein FKHL12; Forkhead-related transcription factor 8", "protein_names_refseq": "FREAC-8; forkhead box protein E3; forkhead, drosophila, homolog-like 12; forkhead-related protein FKHL12; forkhead-related transcription factor 8", "tax_id": 9606, "disease": "anterior segment dysgenesis (Disease Ontology:DOID:0060648); anterior segment dysgenesis 2 (Disease Ontology:DOID:0080607); cataract 34 multiple types (Disease Ontology:DOID:0110230); congenital aphakia (Disease Ontology:DOID:11367); thoracic aortic aneurysm (Disease Ontology:DOID:14004); aortic aneurysm, familial thoracic 11, susceptibility to (MONDO:MONDO:0044301)", "pathway": " (hsa:2301)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10652278;11159941;11980846;16826526;19708017;20630806;22527307;23837651;25504734;26854927;27218149;31844290;32976546;33141586;33392160;34046667;34211107;35051231;37640964;37758467;8825632", "class_list": "", "function": "Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders., [RefSeq, PubMed]; FOXE3 is essential for closure of the lens vesicle during eye development and for lens epithelial survival and proliferation., [RefSeq, PubMed]; FOXO1-regulated lncRNA CYP1B1-AS1 suppresses breast cancer cell proliferation by inhibiting neddylation., [RefSeq, PubMed]; Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia., [RefSeq, PubMed]; Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases. Publication Status: Online-Only, [RefSeq, PubMed]; This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009]., [RefSeq]; Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle (PubMed:22527307, PubMed:25504734). During lens development, controls the ratio of the lens fiber cells to the cells of the anterior lens epithelium by regulating the rate of proliferation and differentiation (By similarity). Controls lens vesicle closure and subsequent separation of the lens vesicle from ectoderm (By similarity). Controls the expression of DNAJB1 in a pathway that is crucial for the development of the anterior segment of the eye (PubMed:27218149)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5SVY9;Q9NQV9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0002930 trabecular meshwork development;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0043066 negative regulation of apoptotic process;GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q13461-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13467-1", "uniprot_id": [ { "id": "FZD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13467", "type": "external" } ], "mass": 64507.0, "length": 585, "protein_name": "Frizzled-5", "gene_name": "FZD5", "organism": "Human", "refseq_name": "frizzled-5 precursor", "refseq_ac": [ { "id": "NP_003459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003459", "type": "external" } ], "gene_names_uniprotkb": "FZD5; C2orf31", "gene_names_refseq": "C2orf31; FZD5; HFZ5; MCOPCB11", "protein_names_uniprotkb": "Frizzled-5; Fz-5; FzE5; hFz5", "protein_names_refseq": "Wnt receptor; frizzled 5, seven transmembrane spanning receptor; frizzled family receptor 5; frizzled-5 precursor; fz-5; fzE5; seven-transmembrane receptor frizzled-5", "tax_id": 9606, "disease": "coloboma (Disease Ontology:DOID:12270); microphthalmia/coloboma 11 (MONDO:MONDO:0958239)", "pathway": " (hsa:7855); (R-HSA-373080); (R-HSA-4086398); (R-HSA-4608870); (R-HSA-4641262); (R-HSA-4641263); (R-HSA-5140745); (R-HSA-5340588)", "pathway_count": 8, "publication_count": 150, "publication_id_list": "10.1101/2023.09.13.557529;10097073;10380924;10391246;10391247;10395542;10421629;10428961;10481074;10488343;10581160;10588714;10684251;10698523;10777564;10858654;11015615;11030334;11297558;11336703;11408929;11563835;11707456;11738041;11861647;12015605;12086864;12098667;12471263;12482967;12490564;12554650;12556497;12559132;12724779;12729560;12975316;14704854;14731402;14977528;15073180;15084453;15492824;15494017;15498814;15545263;15611108;15681612;15937478;16082208;16109882;16341016;16341017;16357527;16602827;16687519;16880514;16890161;16920709;17086209;17117926;17143292;17318175;17320548;17400545;17426020;17529994;17569865;17684012;17804805;18077588;18230341;18339531;18362152;18456304;18488142;18606139;18801728;19061640;19107203;19177143;19379695;19536106;19582886;19619488;19802005;19851316;19910923;20495530;20530549;20934997;20966082;21118996;21183070;21183076;21252990;21693646;21727895;21903638;21909076;21983142;22101459;22575959;22895187;22941947;23074275;23140627;23151663;23256519;23416699;23535009;23632248;23847203;23904219;26590425;26908622;28377511;2841328;30459171;31844290;32737437;33633439;34357683;35251023;3616618;37095549;37595345;38358799;38780005;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8626800;8732687;8770894;8906787;9034327;9054360;9064337;9073455;9389482;9482734;9635432;9674432;9707618", "class_list": "", "function": "A desert lncRNA HIDEN regulates human endoderm differentiation via interacting with IMP1 and stabilizing FZD5 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; Circ_0000592 facilitates the progression of esophageal squamous cell carcinoma via miR-155-5p/FZD5 axis., [RefSeq, PubMed]; Exploiting spatiotemporal regulation of FZD5 during neural patterning for efficient ventral midbrain specification., [RefSeq, PubMed]; Insilco prediction of the role of the FriZZled5 gene in colorectal cancer., [RefSeq, PubMed]; Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq, Jul 2008]., [RefSeq]; Receptor for Wnt proteins (PubMed:10097073, PubMed:20530549, PubMed:26908622, PubMed:9054360). Functions in the canonical Wnt/beta-catenin signaling pathway. In vitro activates WNT2, WNT10B, WNT5A, but not WNT2B or WNT4 signaling (By similarity). In neurons, activation by WNT7A promotes formation of synapses (PubMed:20530549). May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable). Plays a role in yolk sac angiogenesis and in placental vascularization (By similarity). Plays a role in ocular development (PubMed:26908622)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K2X1;B2RCZ1;Q53R22", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0019901 protein kinase binding;GO:0001540 amyloid-beta binding;GO:0031625 ubiquitin protein ligase binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0009986 cell surface;GO:0030424 axon", "go_biological_process": "GO:0000578 embryonic axis specification;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0007416 synapse assembly;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q13467-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14296-1", "uniprot_id": [ { "id": "FASTK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14296", "type": "external" } ], "mass": 61104.0, "length": 549, "protein_name": "Fas-activated serine/threonine kinase", "gene_name": "FASTK", "organism": "Human", "refseq_name": "fas-activated serine/threonine kinase isoform 5", "refseq_ac": [ { "id": "NP_001245390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245390", "type": "external" } ], "gene_names_uniprotkb": "FASTK", "gene_names_refseq": "FASTK; FAST", "protein_names_uniprotkb": "Fas-activated serine/threonine kinase; 2.7.11.1; 2.7.11.8; FAST kinase", "protein_names_refseq": "FAST kinase; fas-activated serine/threonine kinase isoform 5; fas-activated serine/threonine kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:10922)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "15572676;17135269;17344846;24715725;25505266;25576301;25704814;26154972;27846572;27920218;28228285;28510447;28832583;28904123;29242379;29557506;31217245;31844290;32157095;32488085;32938616;33141586;33298915;33592498;33691108;33912179;33968037;34087483;34171305;34768773;35051231;35580925;36241641;38253932;7544399", "class_list": "", "function": "Accuracy of FAST in detecting intraabdominal bleeding in major trauma with pelvic and/or acetabular fractures: a retrospective cohort study., [RefSeq, PubMed]; FAST K synergizes with TIA-1/TIAR proteins to regulate Fas alternative splicing, [RefSeq, PubMed]; FAST is a survival protein that senses mitochondrial stress and modulates TIA-1 regulated changes in protein expression., [RefSeq, PubMed]; Phosphorylates the splicing regulator TIA1, thereby promoting the inclusion of FAS exon 6, which leads to an mRNA encoding a pro-apoptotic form of the receptor., [UniProtKB, PubMed, PubMed]; Required for the biogenesis of some mitochondrial-encoded mRNAs, specifically stabilizes ND6 (NADH dehydrogenase complex subunit 6) mRNA, and regulates its levels., [UniProtKB, PubMed]; Systematic Analysis of FASTK Gene Family Alterations in Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase was shown to be activated rapidly during Fas-mediated apoptosis in Jurkat cells. In response to Fas receptor ligation, it phosphorylates TIA1, an apoptosis-promoting nuclear RNA-binding protein. The encoded protein is a strong inducer of lymphocyte apoptosis. Two transcript variants encoding different isoforms have been found for this gene. Other variants exist, but their full-length natures have not yet been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K867;F8VTW9;Q59EM8;Q8IVA0", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0033867 Fas-activated serine/threonine kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0035770 ribonucleoprotein granule", "go_biological_process": "GO:0000963 mitochondrial RNA processing;GO:0006468 protein phosphorylation;GO:0097190 apoptotic signaling pathway;GO:0043484 regulation of RNA splicing;GO:0044528 regulation of mitochondrial mRNA stability", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q14296-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14332-1", "uniprot_id": [ { "id": "FZD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14332", "type": "external" } ], "mass": 63554.0, "length": 565, "protein_name": "Frizzled-2", "gene_name": "FZD2", "organism": "Human", "refseq_name": "frizzled-2 precursor", "refseq_ac": [ { "id": "NP_001457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001457", "type": "external" } ], "gene_names_uniprotkb": "FZD2", "gene_names_refseq": "FZD2; Fz2; OMOD2; fz-2; fzE2; hFz2", "protein_names_uniprotkb": "Frizzled-2; Fz-2; FzE2; hFz2", "protein_names_refseq": "frizzled 2, seven transmembrane spanning receptor; frizzled family receptor 2; frizzled homolog 2; frizzled-2 precursor; frizzled-2", "tax_id": 9606, "disease": "omodysplasia 2 (Disease Ontology:DOID:0080845); leiomyoma (Disease Ontology:DOID:127); breast carcinoma (Disease Ontology:DOID:3459); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:2535); (R-HSA-201681); (R-HSA-373080); (R-HSA-4086398); (R-HSA-4608870); (R-HSA-4641262); (R-HSA-5140745)", "pathway_count": 7, "publication_count": 207, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10097073;10198061;10380924;10391246;10391247;10395542;10421629;10428961;10481074;10488343;10581160;10588714;10684251;10698523;10777564;10858654;11015615;11029007;11030334;11297558;11336703;11357136;11448771;11493532;11563835;11707456;11738041;11861647;12015605;12086864;12098667;12205098;12223464;12471263;12482967;12554650;12556497;12559132;12724779;12729560;12975316;14636582;14704854;14731402;14977528;14981260;15073180;15084453;15208637;15454084;15459103;15494017;15498814;15545263;15611108;15681612;15937478;16082208;16112985;16116452;16280981;16341016;16341017;16554443;16602827;16687519;16723543;16880514;16890161;16920709;16971168;17117926;17143292;17234765;17318175;17426020;17529994;17569865;17684012;18077588;18215320;18339531;18362152;18423204;18456304;18488142;18606139;18801728;19000841;19061640;19107203;19177143;19379695;19536106;19582886;19619488;19802005;19851316;19910923;20004982;20966082;21118996;21183070;21183076;21252990;21383061;21875946;21903638;21983142;22000856;22014570;22101459;22411803;22653731;22773843;22941947;23074275;23140627;23151663;23256519;23416699;23481700;23535009;23584533;23632248;23791946;23904219;24715725;25576301;25759469;25813380;26590425;26992070;27680706;28228285;2841328;28467828;28904123;29230162;29276006;29331515;29383834;29748286;30315122;30429286;30455931;30459171;30484775;30779550;30924074;31233493;31595151;31844290;31848261;32157095;32161166;32387766;32488085;32938616;32983136;33043033;33298915;33392160;33537174;33592498;33912179;33968037;34185709;34357683;34561969;34986855;35051231;35251023;35580925;36010968;3616618;36215666;37938771;38665916;38967226;6950381;7558010;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9034327;9064337;9073455;9135132;9389482;9391096;9482734;9501980;9635432;9674432;9707618;9813155", "class_list": "", "function": "(Microbial infection) Acts as a receptor for C.difficile toxin TcdB in the colonic epithelium (PubMed:27680706, PubMed:29748286). TcdB occupies the binding site for Wnt-adducted palmitoleate in frizzled receptors and TcdB-binding prevents Wnt-binding and downstream Wnt signaling (PubMed:29748286)., [UniProtKB, PubMed, PubMed]; Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome., [RefSeq, PubMed]; FZD2 acts as an oncogene in tongue cancer, promoting cell growth, invasion and migration. Publication Status: Online-Only, [RefSeq, PubMed]; Fz2 and Wnt5a, might be involved in human Amyotrophic lateral sclerosis pathology., [RefSeq, PubMed]; Integrated weighted gene coexpression network analysis identifies Frizzled 2 (FZD2) as a key gene in invasive malignant pleomorphic adenoma. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (PubMed:25759469). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues., [UniProtKB, PubMed]; Ror2 positively modulates Wnt3a-activated canonical signaling in a lung carcinoma, H441 cell line. This activity of Ror2 is dependent on cooperative interactions with Fzd2 but not Fzd7. Publication Status: Online-Only, [RefSeq, PubMed]; This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 4, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q0VG82", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0030165 PDZ domain binding;GO:0017147 Wnt-protein binding;GO:0042813 Wnt receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0030669 clathrin-coated endocytic vesicle membrane", "go_biological_process": "GO:0045893 positive regulation of DNA-templated transcription;GO:0030182 neuron differentiation;GO:0016055 Wnt signaling pathway;GO:0060070 canonical Wnt signaling pathway;GO:0060071 Wnt signaling pathway, planar cell polarity pathway", "synthesized_glycan_count": 0, "hit_score": 22.3, "record_id": "Q14332-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JRK9-1", "uniprot_id": [ { "id": "GGEE3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JRK9", "type": "external" } ], "mass": 12041.0, "length": 111, "protein_name": "Putative G antigen family E member 3", "gene_name": "PAGE2B", "organism": "Human", "refseq_name": "putative G antigen family E member 3", "refseq_ac": [ { "id": "NP_001015038", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015038", "type": "external" } ], "gene_names_uniprotkb": "PAGE2B; GAGEE3", "gene_names_refseq": "CT16.5; GAGEE3; PAGE-2B; PAGE2B", "protein_names_uniprotkb": "Putative G antigen family E member 3; PAGE-2B; Prostate-associated gene 2B protein", "protein_names_refseq": "G antigen, family E, 3; P antigen family, member 2B; prostate-associated gene 2B protein; putative G antigen family E member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:389860)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;31217245;31222486;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L414", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5JRK9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5NUL3-2", "uniprot_id": [ { "id": "FFAR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5NUL3", "type": "external" } ], "mass": 40494.0, "length": 361, "protein_name": "Free fatty acid receptor 4", "gene_name": "FFAR4", "organism": "Human", "refseq_name": "free fatty acid receptor 4 isoform GPR120-S", "refseq_ac": [ { "id": "NP_001182684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182684", "type": "external" } ], "gene_names_uniprotkb": "FFAR4; GPR120; GPR129; O3FAR1; PGR4", "gene_names_refseq": "BMIQ10; FFAR4; GPR120; GPR129; GT01; O3FAR1; OB10Q; PGR4", "protein_names_uniprotkb": "Free fatty acid receptor 4; G protein-coupled receptor 120; G protein-coupled receptor 129; G protein-coupled receptor GT01; G protein-coupled receptor PGR4; Omega-3 fatty acid receptor 1", "protein_names_refseq": "G-protein coupled receptor 120; G-protein coupled receptor 129; G-protein coupled receptor GT01; G-protein coupled receptor PGR4; Obesity, susceptibility to, on chromosome 10q; free fatty acid receptor 4 isoform GPR120-S; omega-3 fatty acid receptor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:338557); (R-HSA-381771); (R-HSA-416476); (R-HSA-444209)", "pathway_count": 4, "publication_count": 73, "publication_id_list": "10191087;10567430;10727532;10861009;11015615;11564718;11742120;11753430;11978683;12120503;12496283;12496284;12540594;12651102;12679517;12810581;14623098;14719035;14719797;1499644;15126524;15584901;15619630;15951850;16182515;16219666;16268778;16339447;16728727;16754659;16923326;17065399;17681422;18434541;18515384;18519800;18577758;18936096;19001044;1905813;20471368;21712392;22282525;22343897;23809162;24412271;24742677;24817122;27852822;2841328;29557506;30828317;3086311;31154438;31530632;31761534;34087483;35051231;35580925;36402250;37201877;37542525;37842292;38243188;3841689;3900195;7883856;7937899;8100523;8664309;8798518;9305846;9770463", "class_list": "", "function": "FFAR4 activation inhibits lung adenocarcinoma via blocking respiratory chain complex assembly associated mitochondrial metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; Free-Fatty Acid Receptor-4 (FFA4/GPR120) differentially regulates migration, invasion, proliferation and tumor growth of papillary renal cell carcinoma cells., [RefSeq, PubMed]; G protein-coupled receptor for long-chain fatty acids (LCFAs) with a major role in adipogenesis, energy metabolism and inflammation. Signals via G protein and beta-arrestin pathways (PubMed:22282525, PubMed:22343897, PubMed:24742677, PubMed:24817122, PubMed:27852822). LCFAs sensing initiates activation of phosphoinositidase C-linked G proteins GNAQ and GNA11 (G(q)/G(11)), inducing a variety of cellular responses via second messenger pathways such as intracellular calcium mobilization, modulation of cyclic adenosine monophosphate (cAMP) production, and mitogen-activated protein kinases (MAPKs) (PubMed:22282525, PubMed:22343897, PubMed:24742677, PubMed:27852822). After LCFAs binding, associates with beta-arrestin ARRB2 that acts as an adapter protein coupling the receptor to specific downstream signaling pathways, as well as mediating receptor endocytosis (PubMed:22282525, PubMed:24817122). In response to dietary fats, plays an important role in the regulation of adipocyte proliferation and differentiation (By similarity). Acts as a receptor for omega-3 polyunsaturated fatty acids (PUFAs) at primary cilium of perivascular preadipocytes, initiating an adipogenic program via cAMP and CTCF-dependent chromatin remodeling that ultimately results in transcriptional activation of adipogenic genes and cell cycle entry (By similarity). Induces differentiation of brown adipocytes probably via autocrine and endocrine functions of FGF21 hormone (By similarity). Activates brown adipocytes by initiating intracellular calcium signaling that leads to mitochondrial depolarization and fission, and overall increased mitochondrial respiration (By similarity). Consequently stimulates fatty acid uptake and oxidation in mitochondria together with UCP1-mediated thermogenic respiration, eventually reducing fat mass (By similarity). Regulates bi-potential differentiation of bone marrow mesenchymal stem cells toward osteoblasts or adipocytes likely by up-regulating distinct integrins (By similarity). In response to dietary fats regulates hormone secretion and appetite (By similarity). Stimulates GIP and GLP1 secretion from enteroendocrine cells as well as GCG secretion in pancreatic alpha cells, thereby playing a role in the regulation of blood glucose levels (By similarity). Negatively regulates glucose-induced SST secretion in pancreatic delta cells (By similarity). Mediates LCFAs inhibition of GHRL secretion, an appetite-controlling hormone (By similarity). In taste buds, contributes to sensing of dietary fatty acids by the gustatory system (By similarity). During the inflammatory response, promotes anti-inflammatory M2 macrophage differentiation in adipose tissue (By similarity). Mediates the anti-inflammatory effects of omega-3 PUFAs via inhibition of NLRP3 inflammasome activation (PubMed:23809162). In this pathway, interacts with adapter protein ARRB2 and inhibits the priming step triggered by Toll-like receptors (TLRs) at the level of TAK1 and TAB1 (By similarity). Further inhibits the activation step when ARRB2 directly associates with NLRP3, leading to inhibition of pro-inflammatory cytokine release (PubMed:23809162). Mediates LCFAs anti-apoptotic effects (By similarity). Mediates VLCFAs-dependent liver-to-adipose tissue signaling and adipose tissue thermogenesis., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; GPR120/FFAR4: A Potential New Therapeutic Target for Inflammatory Bowel Disease. Review article, [RefSeq, PubMed]; Immune regulation of poly unsaturated fatty acids and free fatty acid receptor 4. Review article, [RefSeq, PubMed]; Predictive value of first-trimester GPR120 levels in gestational diabetes mellitus. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for LCFAs decoupled from G protein signaling. May signal through beta-arrestin pathway. After LCFAs binding, associates with beta-arrestin ARRB2 that may act as an adapter protein coupling the receptor to specific downstream signaling pathways, as well as mediating receptor endocytosis., [UniProtKB, PubMed]; These are the first results which demonstrate specific phosphorylation of GPR120 isoforms upon agonism by free fatty acids and the first which distinguish the phosphorylation profiles of the two GPR120 isoforms., [RefSeq, PubMed]; This gene encodes a G protein-coupled receptor (GPR) which belongs to the rhodopsin family of GPRs. The encoded protein functions as a receptor for free fatty acids, including omega-3, and participates in suppressing anti-inflammatory responses and insulin sensitizing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q495H1;Q5VY25;Q5VY26;Q7Z605;Q86SM7", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005504 fatty acid binding;GO:1990763 arrestin family protein binding;GO:0008527 taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0005765 lysosomal membrane;GO:0010008 endosome membrane;GO:0030139 endocytic vesicle", "go_biological_process": "GO:0006954 inflammatory response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q5NUL3-2", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5YKI7-1", "uniprot_id": [ { "id": "GGNB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5YKI7", "type": "external" } ], "mass": 12309.0, "length": 109, "protein_name": "Putative gametogenetin-binding protein 1", "gene_name": "GGNBP1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GGNBP1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative gametogenetin-binding protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "15625700", "class_list": "", "function": "May be involved in spermatogenesis., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5YKI8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5YKI7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PJQ5-1", "uniprot_id": [ { "id": "FOXR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PJQ5", "type": "external" } ], "mass": 35924.0, "length": 311, "protein_name": "Forkhead box protein R2", "gene_name": "FOXR2", "organism": "Human", "refseq_name": "forkhead box protein R2", "refseq_ac": [ { "id": "NP_940853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940853", "type": "external" } ], "gene_names_uniprotkb": "FOXR2; FOXN6", "gene_names_refseq": "FOXN6; FOXR2", "protein_names_uniprotkb": "Forkhead box protein R2; Forkhead box protein N6", "protein_names_refseq": "forkhead box protein N6; forkhead box protein R2", "tax_id": 9606, "disease": "", "pathway": " (hsa:139628)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "15202009;26596836;26846213;31154438;33464477;33536079;33839405;33968037;35802025;37879492", "class_list": "", "function": "E3 ubiquitin ligase PJA1 regulates lung adenocarcinoma apoptosis and invasion through promoting FOXR2 degradation., [RefSeq, PubMed]; FOXR2 Is an Epigenetically Regulated Pan-Cancer Oncogene That Activates ETS Transcriptional Circuits., [RefSeq, PubMed]; FOXR2 is frequently upregulated in hepatocellular carcinoma specimens compared with neighboring non-cancerous tissues in both messenger RNA and protein. It promoted cell growth and colony formation, and it facilitated tumor xenograft growth. beta-catenin, Skp2, c-Myc, and Gli-1 are the potential downstream effectors of FOXR2., [RefSeq, PubMed]; Human FOXN6 gene was identified within human genome sequence RP11-167P23 (, [RefSeq, PubMed]; Insights into the molecular roles of FOXR2 in the pathology of primary pediatric brain tumors. Review article, [RefSeq, PubMed]; Long noncoding RNA LINC00520 accelerates lung adenocarcinoma progression via miR-1252-5p/FOXR2 pathway., [RefSeq, PubMed]; Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation. Publication Status: Online-Only, [RefSeq, PubMed]; We observed that the highly expressed FOXR2 in breast and overexpression of FOXR2 was positively associated with the progression and poor prognosis in patients with breast cancer, which indicated that FOXR2 might serve as a valuable prognosis biomarker for breast cancer individuals., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6PJQ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6W3E5-1", "uniprot_id": [ { "id": "GDE6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6W3E5", "type": "external" } ], "mass": 71996.0, "length": 623, "protein_name": "Glycerophosphodiester phosphodiesterase 6", "gene_name": "GDPD4", "organism": "Human", "refseq_name": "glycerophosphodiester phosphodiesterase domain-containing protein 4", "refseq_ac": [ { "id": "NP_878253", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_878253", "type": "external" } ], "gene_names_uniprotkb": "GDPD4; GDE6; UGPQ", "gene_names_refseq": "GDE6; GDPD4; ugpQ", "protein_names_uniprotkb": "Glycerophosphodiester phosphodiesterase 6; 3.1.4.-; Glycerophosphodiester phosphodiesterase domain-containing protein 4", "protein_names_refseq": "GDPD domain containing protein; glycerophosphodiester phosphodiesterase 6; glycerophosphodiester phosphodiesterase domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:220032)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "21248752;24715725;31844290;32387766;32488085;34509645;35051231;35182431", "class_list": "", "function": "Ecto-phospholipase that cleaves the phosphodiester bond in the glycosylphosphatidylinositol (GPI) anchor of TRABD2A and TRABD2B, releasing them from the plasma membrane. The release in the extracellular space inactivates these metalloproteases involved in the negative regulation of Wnt signaling., [UniProtKB, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z5B0", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.2", "type": "external" }, { "id": "3.1.4.43", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.43", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008889 glycerophosphodiester phosphodiesterase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6W3E5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZNA5-1", "uniprot_id": [ { "id": "FRRS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZNA5", "type": "external" } ], "mass": 66114.0, "length": 592, "protein_name": "Ferric reductase 1", "gene_name": "FRRS1", "organism": "Human", "refseq_name": "ferric reductase 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001013682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013682", "type": "external" } ], "gene_names_uniprotkb": "FRRS1; SDFR2; SDR2", "gene_names_refseq": "FRRS1; SDFR2; SDR2", "protein_names_uniprotkb": "Ferric reductase 1; 1.-.-.-; Ferric-chelate reductase 1; SDR-2; Stromal cell-derived receptor 2", "protein_names_refseq": "SDR-2; ferric reductase 1 isoform 1 precursor; ferric reductase 1; stromal cell derived factor receptor 2 homolog; stromal cell-derived receptor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:391059)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;16169296;23481700;23584533;24190977;24715725;25502872;25576301;28228285;28467828;28904123;29242379;29314611;29557506;30410026;30459171;31611695;31844290;32350084;32357974;32983136;33912179;34078123;34357683;34433824;35051231;35154160;35251023;35289036;35580925;36284347;37074911", "class_list": "", "function": "Ferric reductase that reduces Fe(3+) to Fe(2+) and could play a role in iron import into cells (By similarity). The electron donor and therefore the reaction mechanism are not known (By similarity)., [UniProtKB, UniProtKB]; Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A6NLN7", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0016722 oxidoreductase activity, acting on metal ions", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q6ZNA5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1C3-1", "uniprot_id": [ { "id": "GBRG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1C3", "type": "external" } ], "mass": 53595.0, "length": 465, "protein_name": "Gamma-aminobutyric acid receptor subunit gamma-1", "gene_name": "GABRG1", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit gamma-1 precursor", "refseq_ac": [ { "id": "NP_775807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775807", "type": "external" } ], "gene_names_uniprotkb": "GABRG1", "gene_names_refseq": "GABRG1", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit gamma-1; GABA(A) receptor subunit gamma-1; GABAAR subunit gamma-1", "protein_names_refseq": "GABA(A) receptor subunit gamma-1; GABA(A) receptor, gamma; GABAAR subunit gamma-1; gamma-1 polypeptide; gamma-aminobutyric acid (GABA) A receptor, gamma 1; gamma-aminobutyric acid receptor subunit gamma-1 precursor; gamma-aminobutyric acid receptor subunit gamma-1; gamma-aminobutyric acid type A receptor gamma1 subunit", "tax_id": 9606, "disease": "trigeminal neuralgia (Disease Ontology:DOID:12098)", "pathway": " (hsa:2565)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10449790;16080114;17507911;24425869;26087834;31690811;31790348;34932366;35051231;35580925", "class_list": "", "function": "Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:10449790). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:10449790). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Logistic regression analysis indicated that genetic elements in the GABRG1 haplotype block likely contribute to alcohol dependence risk in an additive manner. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Rs1497577 not significantly associated with adaptation to subjective responses to alcohol, [RefSeq, PubMed]; Steady-state activation of the high-affinity isoform of the alpha4beta2delta GABAA receptor. Publication Status: Online-Only, [RefSeq, PubMed]; Switching the intracellular domains of the gamma2 and gamma1 subunits substantiated this inference. Because this region determines post-synaptic localization, we hypothesize that GABAARs containing gamma1 and gamma2 use different mechanisms for synaptic clustering., [RefSeq, PubMed]; The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]., [RefSeq]; The strongest association for alcohol use disorder (rs3756007) was located in GABRA2, the strongest association for antisocial behavior (rs11941860) was located in GABRG1, and the interaction term yielded top associations in GABRA2 (rs2119183) and the intergenic region between GABRA2 and GABRG1 (rs536599)., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5H9T8", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0050811 GABA receptor binding;GO:0004890 GABA-A receptor activity;GO:0022851 GABA-gated chloride ion channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045211 postsynaptic membrane;GO:0098794 postsynapse;GO:0034707 chloride channel complex;GO:0032590 dendrite membrane", "go_biological_process": "GO:0007214 gamma-aminobutyric acid signaling pathway;GO:1902476 chloride transmembrane transport;GO:0051932 synaptic transmission, GABAergic;GO:1904862 inhibitory synapse assembly", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8N1C3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4A0-1", "uniprot_id": [ { "id": "GALT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4A0", "type": "external" } ], "mass": 66666.0, "length": 578, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 4", "gene_name": "GALNT4", "organism": "Human", "refseq_name": "POC1B-GALNT4 protein isoform 2", "refseq_ac": [ { "id": "NP_001186711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186711", "type": "external" } ], "gene_names_uniprotkb": "GALNT4", "gene_names_refseq": "POC1B-GALNT4", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 4; 2.4.1.41; GalNAc-T4; Polypeptide GalNAc transferase 4; Protein-UDP acetylgalactosaminyltransferase 4; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 4; pp-GaNTase 4", "protein_names_refseq": "POC1B-GALNT4 fusion; POC1B-GALNT4 protein isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:100528030); (hsa:8693); (R-HSA-913709)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10330415;10430883;10753916;10984485;11042166;11283017;11304796;11821425;12855678;1329093;14702039;15486459;15489334;15560372;15620693;16207894;16541075;17113861;18537974;20967262;22183981;24643043;28063628;28228285;28832583;29208955;29242379;29351928;29632046;29786170;30276263;31844290;32350084;32357974;32387766;32938616;32983136;33043033;33592498;33912179;33968037;34087483;34171305;34357683;34509645;35051231;35154160;35251023;36284347;37340703;7655172;9295285;9394011;9417100;9435216;9804815;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a highest activity toward Muc7, EA2 and Muc2, with a lowest activity than GALNT2. Glycosylates 'Thr-57' of SELPLG., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This locus represents naturally occurring transcripts that splice the 5' exons of the POC1B (POC1 centriolar protein homolog B) gene on chromosome 12 to the GALNT4 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4) gene, which is located within a POC1B intron. Alternative splicing results in two transcript variants, one of which encodes a fusion isoform that shares sequence identity with the products of each individual gene. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 732, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R775;B4DMX6;O00208", "ec_number_list": [ { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0030145 manganese ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 7434, "hit_score": 6.2, "record_id": "Q8N4A0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000010000.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGA4-1", "uniprot_id": [ { "id": "G32P1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGA4", "type": "external" } ], "mass": 30291.0, "length": 272, "protein_name": "Putative G protein-coupled receptor GPR32P1", "gene_name": "GPR32P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GPR32P1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative G protein-coupled receptor GPR32P1; G protein-coupled 32 pseudogene 1; G protein-coupled 32 pseudogene; G protein-coupled receptor GPCR39; hGPCR39", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "12044878;32387766;32938616;35051231", "class_list": "", "function": "Orphan receptor., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8TDT1", "ec_number_list": [], "go_molecular_function": "GO:0004875 complement receptor activity;GO:0004982 N-formyl peptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002430 complement receptor mediated signaling pathway;GO:0006954 inflammatory response;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NGA4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBJ5-1", "uniprot_id": [ { "id": "FEZF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBJ5", "type": "external" } ], "mass": 48811.0, "length": 459, "protein_name": "Fez family zinc finger protein 2", "gene_name": "FEZF2", "organism": "Human", "refseq_name": "fez family zinc finger protein 2", "refseq_ac": [ { "id": "NP_060478", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060478", "type": "external" } ], "gene_names_uniprotkb": "FEZF2; FEZL; FKSG36; ZNF312", "gene_names_refseq": "FEZF2; FEZL; FEZ; FKSG36; TOF; ZFP312; ZNF312", "protein_names_uniprotkb": "Fez family zinc finger protein 2; Forebrain embryonic zinc finger-like protein 2; Zinc finger protein 312; Zinc finger protein Fez-like", "protein_names_refseq": "fez family zinc finger protein 2; forebrain embryonic zinc finger-like protein 2; testis tissue sperm-binding protein Li 80P; too few; zinc finger protein 312", "tax_id": 9606, "disease": "", "pathway": " (hsa:55079)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "20570630;21220648;21471212;23677067;24913420;25319688;29925938;31844290;34360993;35051231;38425142", "class_list": "", "function": "FEZF2 expression has a role in cell proliferation and differentiation in adult neural stem cells., [RefSeq, PubMed]; Fezf1 and Fezf2 accomplish both independent and redundant functions across diverse tissue and cell types. [Review] Review article, [RefSeq, PubMed]; Fezf2 expression is downregulated in bladder cancer tissues and cell lines compared to adjacent non-tumor tissues and normal urothelial cells. Overexpression of Fezf2 significantly inhibited the proliferation, growth, migration, and invasion of bladder cancer cells, and attenuated angiogenesis, while knockdown of Fezf2 had the opposite effect., [RefSeq, PubMed]; Overexpression of EZH2 was frequently detected in NPC tumors. Thus, we have identified FEZF2 as a novel 3p14.2 TSG frequently inactivated by promoter methylation in NPC, which functions as a repressor downregulating multiple oncogene expression, [RefSeq, PubMed]; Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype., [RefSeq, PubMed]; The feasibility of employing genomic SELEX to identify vertebrate transcription factor binding sites and target genes and reveal Fezf2 as a transcription activator and a candidate for evaluation in human microcephaly., [RefSeq, PubMed]; Transcription repressor. Required for the specification of corticospinal motor neurons and other subcerebral projection neurons. May play a role in layer and neuronal subtype-specific patterning of subcortical projections and axonal fasciculation. Controls the development of dendritic arborization and spines of large layer V pyramidal neurons. May be involved in innate immunity (By similarity)., [UniProtKB]; ZNF312 and other brain-layer biomarkers have area dependent expressions in the human fetal cortex., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K349;Q9BZ91;Q9NWB9", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0010468 regulation of gene expression;GO:0050767 regulation of neurogenesis", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8TBJ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000100000000.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WZA8-1", "uniprot_id": [ { "id": "GC224_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WZA8", "type": "external" } ], "mass": 3819.0, "length": 35, "protein_name": "Putative gastric cancer-related gene 224 protein", "gene_name": "GCRG224", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GCRG224", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative gastric cancer-related gene 224 protein; GCRG-224; GCRG-p224", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "12508346", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8WZA8-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92908-1", "uniprot_id": [ { "id": "GATA6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92908", "type": "external" } ], "mass": 60033.0, "length": 595, "protein_name": "Transcription factor GATA-6", "gene_name": "GATA6", "organism": "Human", "refseq_name": "transcription factor GATA-6", "refseq_ac": [ { "id": "NP_005248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005248", "type": "external" } ], "gene_names_uniprotkb": "GATA6", "gene_names_refseq": "GATA6", "protein_names_uniprotkb": "Transcription factor GATA-6; GATA-binding factor 6", "protein_names_refseq": "GATA-binding factor 6; transcription factor GATA-6", "tax_id": 9606, "disease": "atrioventricular septal defect (Disease Ontology:DOID:0050651); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); atrial heart septal defect 9 (Disease Ontology:DOID:0110114); pancreatic hypoplasia-diabetes-congenital heart disease syndrome (Disease Ontology:DOID:0111733); ventricular septal defect (Disease Ontology:DOID:1657); congenital heart disease (Disease Ontology:DOID:1682); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); Klatskin's tumor (Disease Ontology:DOID:4927); double outlet right ventricle (Disease Ontology:DOID:6406); tetralogy of Fallot (Disease Ontology:DOID:6419); pulmonary hypertension (Disease Ontology:DOID:6432); Barrett's esophagus (Disease Ontology:DOID:9206)", "pathway": " (hsa:2627); (R-HSA-5683826); (R-HSA-9733709); (R-HSA-9823730); (R-HSA-983231); (R-HSA-9937080)", "pathway_count": 6, "publication_count": 133, "publication_id_list": "10368295;10485905;10496952;10580105;10608869;10625644;11042108;11062261;11242053;11278984;11563989;11744692;11751636;11895428;11950885;12032298;12134158;12185598;12427746;12882447;1325798;1339284;1415726;15020713;15095414;15247287;1568474;15710388;15926889;16006481;16054028;16199866;1630448;1636732;16423266;16630564;16968778;17027967;17196961;17204604;17496061;18020944;18454176;18669648;18692472;1898081;19100526;19144824;1928448;19293402;19413330;19479054;19564924;19666519;19824815;20054143;20068231;20147294;20338813;20418254;20530532;20581743;20627800;20631719;21245162;21630377;21855631;218813;22158542;22750565;22824924;23069847;23590306;23684610;23922714;24743970;2515193;25187301;25424900;25843708;2587265;26015544;2610270;26783251;26845023;27273097;27705785;27756709;29557506;29636455;2995821;3037072;30629940;31844290;31848261;32157095;32350084;32488085;32795420;32938616;33054971;33082341;3366248;33968037;3409321;34171305;34631;35051231;3755136;37700164;37914087;37972693;3801783;38665916;38702016;7597036;8314870;8428971;8522976;8527267;8636114;8662638;8816476;8975704;9065479;9230307;9294001;9315713;9326583;9331217;9422515;9813380;9927674", "class_list": "", "function": "Dysregulated expression of GATA2 and GATA6 transcription factors in adenomyosis: implications for impaired endometrial receptivity., [RefSeq, PubMed]; Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis., [RefSeq, PubMed]; PLAU, transcriptionally negatively regulated by GATA6, promotes lung squamous carcinoma cell proliferation and migration., [RefSeq, PubMed]; The transcription factor GATA6 accelerates vascular smooth muscle cell senescence-related arterial calcification by counteracting the role of anti-aging factor SIRT6 and impeding DNA damage repair., [RefSeq, PubMed]; This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]., [RefSeq]; Transcriptional activator (PubMed:19666519, PubMed:22750565, PubMed:22824924, PubMed:27756709). Regulates SEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulation specifically in the gastric epithelium (PubMed:9315713). May regulate genes that protect epithelial cells from bacterial infection (PubMed:16968778). Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). In human skin, controls several physiological processes contributing to homeostasis of the upper pilosebaceous unit. Triggers ductal and sebaceous differentiation as well as limits cell proliferation and lipid production to prevent hyperseborrhoea. Mediates the effects of retinoic acid on sebocyte proliferation, differentiation and lipid production. Also contributes to immune regulation of sebocytes and antimicrobial responses by modulating the expression of anti-inflammatory genes such as IL10 and pro-inflammatory genes such as IL6, TLR2, TLR4, and IFNG. Activates TGFB1 signaling which controls the interfollicular epidermis fate (PubMed:33082341)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ17;P78327", "ec_number_list": [], "go_molecular_function": "GO:0051525 NFAT protein binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0002759 regulation of antimicrobial humoral response;GO:0036302 atrioventricular canal development;GO:0098773 skin epidermis development;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "Q92908-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PP8-1", "uniprot_id": [ { "id": "GBP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PP8", "type": "external" } ], "mass": 66617.0, "length": 586, "protein_name": "Guanylate-binding protein 5", "gene_name": "GBP5", "organism": "Human", "refseq_name": "guanylate-binding protein 5 isoform 1", "refseq_ac": [ { "id": "NP_001127958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127958", "type": "external" } ], "gene_names_uniprotkb": "GBP5; PRO4987", "gene_names_refseq": "GBP-5; GBP5", "protein_names_uniprotkb": "Guanylate-binding protein 5; 3.6.5.-; GBP-5; GBP-TA antigen; GTP-binding protein 5; Guanine nucleotide-binding protein 5", "protein_names_refseq": "GBP-TA antigen; GTP-binding protein 5; guanine nucleotide-binding protein 5; guanylate-binding protein 5 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:115362); (R-HSA-877300); (R-HSA-9953170)", "pathway_count": 3, "publication_count": 109, "publication_id_list": "10.1101/2023.09.13.557529;10067896;10986460;11237011;11687658;11972023;12040185;12438563;12446674;12915721;12975309;1396683;14586410;14722222;1508672;15143187;15175044;15322115;15388922;15530433;16237089;16467876;16511497;17125875;17266443;18362138;18591661;20049711;20130243;20180847;20304997;20363976;21151871;22461501;22645359;23061660;23481700;24417533;26154972;26375851;26996307;27862975;28228285;28514659;28645896;28832583;28904123;29242379;29331515;29437277;29493099;29508533;29557506;29632711;29786170;30429286;30444036;30484775;31091448;31154438;31216343;31268602;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32510692;32581219;32938616;32983136;33239784;33298915;33876762;33912179;33968037;34357683;35051231;35154160;35318648;35580925;38050666;38185269;38531874;38978333;39212413;39394410;40914422;7510216;7512561;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;8830800;9111318;9143706", "class_list": "", "function": "Antigenic tumor-specific truncated splice form., [UniProtKB, PubMed]; Eight of nine melanoma cell lines expressed GBP-5a/b and four of nine additionally low levels of GBP-5ta., [RefSeq, PubMed]; GBP5 is constitutively localized in the Golgi apparatus of endothelial cells., [RefSeq, PubMed]; Guanylate binding protein 5 is an immune-related biomarker of oral squamous cell carcinoma: A retrospective prognostic study with bioinformatic analysis., [RefSeq, PubMed]; Guanylate binding protein 5 triggers NF-kappaB activation to foster radioresistance, metastatic progression and PD-L1 expression in oral squamous cell carcinoma., [RefSeq, PubMed]; Guanylate-binding protein 5 antagonizes viral glycoproteins independently of furin processing., [RefSeq, PubMed]; Guanylate-binding protein 5-mediated cell-autonomous immunity suppresses inflammation in dental pulpitis: An in vitro study., [RefSeq, PubMed]; Interferon (IFN)-inducible GTPase that plays important roles in innate immunity against a diverse range of bacterial, viral and protozoan pathogens (By similarity). Hydrolyzes GTP, but in contrast to other family members, does not produce GMP (PubMed:20180847). Following infection, recruited to the pathogen-containing vacuoles or vacuole-escaped bacteria and acts as a positive regulator of inflammasome assembly by promoting the release of inflammasome ligands from bacteria (By similarity). Acts by promoting lysis of pathogen-containing vacuoles, releasing pathogens into the cytosol (By similarity). Following pathogen release in the cytosol, promotes recruitment of proteins that mediate bacterial cytolysis: this liberates ligands that are detected by inflammasomes, such as lipopolysaccharide (LPS) that activates the non-canonical CASP4/CASP11 inflammasome or double-stranded DNA (dsDNA) that activates the AIM2 inflammasome (By similarity). As an activator of NLRP3 inflammasome assembly: promotes selective NLRP3 inflammasome assembly in response to microbial and soluble, but not crystalline, agents (PubMed:22461501). Independently of its GTPase activity, acts as an inhibitor of various viruses infectivity, such as HIV-1, Zika and influenza A viruses, by inhibiting FURIN-mediated maturation of viral envelope proteins (PubMed:26996307, PubMed:31091448)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Profiling the colonic mucosal response to fecal microbiota transplantation identifies a role for GBP5 in colitis in humans and mice. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the TRAFAC class dynamin-like GTPase superfamily. The encoded protein acts as an activator of NLRP3 inflammasome assembly and has a role in innate immunity and inflammation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RCE1;Q86TM5", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.84", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.84", "type": "external" }, { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.5.1.58", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.58", "type": "external" }, { "id": "2.5.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.59", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0140678 molecular function inhibitor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0032741 positive regulation of interleukin-18 production;GO:0006954 inflammatory response;GO:0051289 protein homotetramerization;GO:0051607 defense response to virus;GO:0006605 protein targeting", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q96PP8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PP9-1", "uniprot_id": [ { "id": "GBP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PP9", "type": "external" } ], "mass": 73165.0, "length": 640, "protein_name": "Guanylate-binding protein 4", "gene_name": "GBP4", "organism": "Human", "refseq_name": "guanylate-binding protein 4", "refseq_ac": [ { "id": "NP_443173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443173", "type": "external" } ], "gene_names_uniprotkb": "GBP4", "gene_names_refseq": "GBP4; Mpa2", "protein_names_uniprotkb": "Guanylate-binding protein 4; 3.6.5.-; GBP-4; GTP-binding protein 4; Guanine nucleotide-binding protein 4", "protein_names_refseq": "GBP-4; GTP-binding protein 4; guanine nucleotide-binding protein 4; guanylate-binding protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:115361); (R-HSA-877300); (R-HSA-9948001); (R-HSA-9953170); (R-HSA-9956593)", "pathway_count": 5, "publication_count": 140, "publication_id_list": "10067896;10986460;11687658;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;16511497;17074750;17125875;17266443;18362138;18591661;18991276;20049711;20130243;20237496;20304997;20363976;21151871;22424782;22645359;22706990;23061660;23481700;23516580;24366607;24417533;24715725;25119034;25418920;25880248;25892735;26154972;26811146;26929215;26992070;27846572;27862975;27920218;28063628;28352266;28514659;28593173;28645896;28649982;28832583;28860189;28904123;29024643;29144452;29177860;29242379;29393594;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30429286;30484775;30524438;30692621;31020640;31091448;31092671;31154438;31216343;31217245;31268602;31844290;32109412;32157095;32265295;32350084;32357974;32387766;32488085;32510692;32581219;32938616;32983136;33239784;33298915;33633747;33876762;33912179;33936100;33968037;34087483;34357683;34509645;34561969;34671164;34916628;34932366;35051231;35580925;36284347;36624349;37217939;37340703;37558421;37938771;38253038;38347243;39394410;40914422;7510216;7512561;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;8830800;9111318;9143706", "class_list": "", "function": "Guanylate binding protein 4 shapes an inflamed tumor microenvironment and identifies immuno-hot tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008]., [RefSeq]; Interferon (IFN)-inducible GTPase that plays important roles in innate immunity against a diverse range of bacterial, viral and protozoan pathogens (By similarity). Negatively regulates the antiviral response by inhibiting activation of IRF7 transcription factor (By similarity)., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R630;Q05D63;Q6NSL0;Q86T99", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.84", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.84", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.4.22.57", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.57", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0050830 defense response to Gram-positive bacterium;GO:0071346 cellular response to type II interferon;GO:0042832 defense response to protozoan", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "Q96PP9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PS6-1", "uniprot_id": [ { "id": "GAFA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PS6", "type": "external" } ], "mass": 8425.0, "length": 74, "protein_name": "Putative uncharacterized protein GAFA-1", "gene_name": "GAFA1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GAFA1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein GAFA-1; Gene associated with FGF-2 activity protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q96PS6-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXU8-1", "uniprot_id": [ { "id": "FHL17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXU8", "type": "external" } ], "mass": 21142.0, "length": 183, "protein_name": "Ferritin heavy polypeptide-like 17", "gene_name": "FTHL17", "organism": "Human", "refseq_name": "ferritin heavy polypeptide-like 17", "refseq_ac": [ { "id": "NP_114100", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114100", "type": "external" } ], "gene_names_uniprotkb": "FTHL17", "gene_names_refseq": "CT38; FTHL17", "protein_names_uniprotkb": "Ferritin heavy polypeptide-like 17; CT38; Cancer/testis antigen 38", "protein_names_refseq": "cancer/testis antigen 38; epididymis secretory sperm binding protein; ferritin heavy polypeptide-like 17; ferritin, heavy polypeptide-like 17", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:53940)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11279525;12704671;25749565;29331515;30922653;31154438;35051231", "class_list": "", "function": "Describe the first 46,XY PGD pedigree that may be attributed to mutations of the FTHL17 gene and speculate that the FTHL17 gene is involved in the testis-determining pathway and tumorigenesis., [RefSeq, PubMed]; FTHL17 encodes a ferritin-like protein without ferroxidase activity. Its restricted embryonic expression and partial nuclear localization suggest that this novel ferritin type may have functions other than iron storage., [RefSeq, PubMed]; This gene encodes a ferritin heavy chain-like protein. This gene is primarily expressed in embryonic germ cells. The encoded protein may lack ferroxidase activity. Multiple pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Oct 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6NT24;Q6NTE2", "ec_number_list": [], "go_molecular_function": "GO:0008198 ferrous iron binding;GO:0008199 ferric iron binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0006826 iron ion transport", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9BXU8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BY60-1", "uniprot_id": [ { "id": "GBRL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BY60", "type": "external" } ], "mass": 13976.0, "length": 117, "protein_name": "Gamma-aminobutyric acid receptor-associated protein-like 3", "gene_name": "GABARAPL3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GABARAPL3", "gene_names_refseq": "", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor-associated protein-like 3; GABA(A) receptor-associated protein-like 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-1632852)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11096062;11414770;11825910;15187094;16963840;17618624;18321988;18439900;19211835;19322194;19590496;19855179;19898463;20059746;20713597;20921139;21177865;21205641;21258367;21383122;21460621;21819378;22170151;22682742;23202584;23685627;23727157;23884233;24747438;24954904;25484072;25568151;29393594;7628435", "class_list": "", "function": "Ubiquitin-like modifier involved in autophagosome formation. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0008429 phosphatidylethanolamine binding;GO:0050811 GABA receptor binding", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005874 microtubule;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0000045 autophagosome assembly;GO:0000423 mitophagy;GO:0006995 cellular response to nitrogen starvation", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9BY60-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H461-1", "uniprot_id": [ { "id": "FZD8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H461", "type": "external" } ], "mass": 73300.0, "length": 694, "protein_name": "Frizzled-8", "gene_name": "FZD8", "organism": "Human", "refseq_name": "frizzled-8 precursor", "refseq_ac": [ { "id": "NP_114072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114072", "type": "external" } ], "gene_names_uniprotkb": "FZD8", "gene_names_refseq": "FZ-8; FZD8; hFZ8", "protein_names_uniprotkb": "Frizzled-8; Fz-8; hFz8", "protein_names_refseq": "frizzled 8, seven transmembrane spanning receptor; frizzled family receptor 8; frizzled homolog 8; frizzled-8 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:8325); (R-HSA-373080); (R-HSA-4608870); (R-HSA-4641263); (R-HSA-5340588)", "pathway_count": 5, "publication_count": 73, "publication_id_list": "10.1101/2023.09.13.557529;10097073;11295046;11297558;11448771;12098667;12559132;12724779;15492824;15498814;15937478;16109882;16357527;16602827;16687519;16882988;17086209;17320548;17400545;17804805;18801728;19379695;20495530;20966082;21693646;21727895;21909076;21983142;22575959;22895187;23140627;23535009;23847203;24496449;24715725;25645385;26154972;28514659;28834231;29557506;30429286;30833945;31154438;31848261;32161008;32161166;32488085;32938616;33392160;33968037;34171305;35051231;35580925;36010968;36127685;3616618;36284347;36720664;37938771;38494582;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9064337;9674432", "class_list": "", "function": "CircMCTP2 enhances the progression of bladder cancer by regulating the miR-99a-5p/FZD8 axis. Publication Status: Online-Only, [RefSeq, PubMed]; FZD8 Indicates a Poor Prognosis and Promotes Gastric Cancer Invasion and Metastasis via B-Catenin Signaling Pathway., [RefSeq, PubMed]; MiR-99a alleviates apoptosis and extracellular matrix degradation in experimentally induced spine osteoarthritis by targeting FZD8. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpressions of RHOA, CSNK1A1, DVL2, FZD8, and LRP5 genes enhance gastric cancer development in the presence of Helicobacter pylori., [RefSeq, PubMed]; Receptor for Wnt proteins. Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes. The beta-catenin canonical signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Coreceptor along with RYK of Wnt proteins, such as WNT1., [UniProtKB, PubMed]; This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005102 signaling receptor binding;GO:0031625 ubiquitin protein ligase binding;GO:0030165 PDZ domain binding;GO:0017147 Wnt-protein binding", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:1990851 Wnt-Frizzled-LRP5/6 complex", "go_biological_process": "GO:0030182 neuron differentiation;GO:0060070 canonical Wnt signaling pathway;GO:0035567 non-canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9H461-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0K9-1", "uniprot_id": [ { "id": "FRS1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0K9", "type": "external" } ], "mass": 32389.0, "length": 293, "protein_name": "DOMON domain-containing protein FRRS1L", "gene_name": "FRRS1L", "organism": "Human", "refseq_name": "DOMON domain-containing protein FRRS1L precursor", "refseq_ac": [ { "id": "NP_055149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055149", "type": "external" } ], "gene_names_uniprotkb": "FRRS1L; C9orf4", "gene_names_refseq": "C9orf4; CG-6; CG6; DEE37; EIEE37; FRRS1L", "protein_names_uniprotkb": "DOMON domain-containing protein FRRS1L; Brain protein CG-6; Ferric-chelate reductase 1-like protein", "protein_names_refseq": "DOMON domain-containing protein FRRS1L precursor; DOMON domain-containing protein FRRS1L; brain protein CG-6", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 37 (Disease Ontology:DOID:0080435)", "pathway": " (hsa:23732)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10603000;11237011;27236917;27239025;32928027;35815844;36330921", "class_list": "", "function": "Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements., [RefSeq, PubMed]; Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L., [RefSeq, PubMed]; Important modulator of glutamate signaling pathway., [UniProtKB, PubMed]; Loss-of-Function Mutations in FRRS1L gene is associated with Epileptic-Dyskinetic Encephalopathy., [RefSeq, PubMed]; Movement disorder caused by FRRS1L deficiency may be associated with morphological and functional disorders in Purkinje cells., [RefSeq, PubMed]; This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5T4G4", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0045505 dynein intermediate chain binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0098794 postsynapse", "go_biological_process": "GO:1900449 regulation of glutamate receptor signaling pathway;GO:0099072 regulation of postsynaptic membrane neurotransmitter receptor levels", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9P0K9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGQ2-1", "uniprot_id": [ { "id": "FLOWR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGQ2", "type": "external" } ], "mass": 18470.0, "length": 172, "protein_name": "Calcium channel flower homolog", "gene_name": "CACFD1", "organism": "Human", "refseq_name": "calcium channel flower homolog isoform b", "refseq_ac": [ { "id": "NP_001129247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129247", "type": "external" } ], "gene_names_uniprotkb": "CACFD1; C9orf7; PRO9903; PSEC0107; PSEC0248", "gene_names_refseq": "C9orf7; CACFD1; D9S2135; FLOWER", "protein_names_uniprotkb": "Calcium channel flower homolog; Calcium channel flower domain-containing protein 1", "protein_names_refseq": "calcium channel flower domain-containing protein 1; calcium channel flower homolog isoform b; calcium channel flower homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:11094)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;12975309;16303743;24715725;26154972;26992070;29632711;31341286;31848261;34864683;37348560", "class_list": "", "function": "Biomarkers for C9orf7-ALS in Symptomatic and Pre-symptomatic Patients: State-of-the-art in the New Era of Clinical Trials. Review article, [RefSeq, PubMed]; Functions with the other flower isoforms to produce tissue-specific fitness fingerprints that identify unfit or fit cells during cell selection processes in order to maintain tissue health (PubMed:31341286). During cell competition, if levels of this isoform in unfit cells is higher than in the surrounding neighboring cells, the cells are recognized as 'loser' cells, and undergo elimination via apoptosis to be replaced by the surrounding healthy 'winner' cell population (PubMed:31341286)., [UniProtKB, PubMed]; Membrane structure and internalization dynamics of human Flower isoforms hFWE3 and hFWE4 indicate a conserved endocytic role for hFWE4., [RefSeq, PubMed]; Transmembrane protein which mediates synaptic endocytosis and fitness-based cell culling (PubMed:31341286, PubMed:37348560). In response to different stimulus strengths, controls two major modes of synaptic vesicle (SV) retrieval in hippocampal neurons; Clathrin-mediated endocytosis (CME) in response to mild stimulation and activity-dependent bulk endocytosis (ADBE) in response to strong stimulation (By similarity). In cytotoxic T-lymphocytes (CTLs) facilitates calcium-dependent endocytosis of cytotoxic granules at the immuno synapse (By similarity). Different isoforms work as fitness fingerprints in 'loser' and 'winner' cells and thereby mediate win/lose decisions as part of the cell competition process (PubMed:31341286)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z3T8;B7Z5E1;F5GXX4;Q5SXD4;Q8NBM6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0055037 recycling endosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9UGQ2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UP38-1", "uniprot_id": [ { "id": "FZD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UP38", "type": "external" } ], "mass": 71158.0, "length": 647, "protein_name": "Frizzled-1", "gene_name": "FZD1", "organism": "Human", "refseq_name": "frizzled-1", "refseq_ac": [ { "id": "NP_003496", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003496", "type": "external" } ], "gene_names_uniprotkb": "FZD1", "gene_names_refseq": "FZD1", "protein_names_uniprotkb": "Frizzled-1; Fz-1; FzE1; hFz1", "protein_names_refseq": "Wnt receptor; frizzled 1, seven transmembrane spanning receptor; frizzled family receptor 1; frizzled homolog 1; frizzled, Drosophila, homolog of, 1; frizzled-1; fz-1; fzE1; hFz1", "tax_id": 9606, "disease": "breast carcinoma (Disease Ontology:DOID:3459)", "pathway": " (hsa:8321); (R-HSA-201681); (R-HSA-373080); (R-HSA-4086400); (R-HSA-4608870); (R-HSA-4641262)", "pathway_count": 6, "publication_count": 178, "publication_id_list": "10.1101/2023.09.13.557529;10097073;10198061;10421629;10428961;10481074;10557084;10581160;10684251;10698523;10698942;10862746;11029007;11101902;11297558;11336703;11357136;11358862;11448771;11493532;11707456;11738041;11751577;11779461;11861647;12015986;12098667;12134165;12205098;12223464;12533515;12554650;12559132;12724779;12839624;14636582;14731402;14981260;15073180;15084453;15143170;15169958;15208637;15454084;15459103;15498814;15501440;15608632;15681612;15936275;15937478;16082208;16116452;16280981;16341016;16341017;16495441;16554443;16602827;16687519;16723543;16890161;16971168;17021034;17130287;17143292;17234765;17318175;17373907;17433286;17529994;17569865;17627283;18077588;18162551;18215320;18256687;18339531;18362152;18423204;18606139;18719708;18798527;18801728;19000841;19061640;19107203;19188438;19365405;19379695;19523939;19530173;19589360;19619488;19802005;20004982;20006983;20803696;20940229;20966082;21183070;21183076;21252990;21316585;21383061;21875946;21983142;22000856;22014570;22411803;22653731;22773843;23074275;23109420;23140627;23140633;23144463;23256519;23396967;23535009;23791946;23821037;25645385;26992070;27680706;27862975;28514659;28904123;29393594;29557506;29786170;30001391;30429286;30459171;31154438;31611695;31844290;32161166;32387766;32488085;32897882;32938616;32983136;33043033;33141586;33392160;33592498;34253104;34357683;34781823;34893109;35051231;35296808;35580925;3616618;37938771;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9034327;9064337;9135132;9391096;9482734;9501980;9635432;9674432;9707618;9716412;9813155", "class_list": "", "function": "(Microbial infection) Acts as a receptor for C.difficile toxin TcdB in the colonic epithelium., [UniProtKB, PubMed]; Epigenetic repression of Wnt receptors in AD: a role for Sirtuin2-induced H4K16ac deacetylation of Frizzled1 and Frizzled7 promoters., [RefSeq, PubMed]; LINC00942 Promotes Tumor Proliferation and Metastasis in Lung Adenocarcinoma via FZD1 Upregulation., [RefSeq, PubMed]; Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD1 transcript is expressed in various tissues. [provided by RefSeq, Jul 2008]., [RefSeq]; Protein disulfide isomerase family 6 promotes the imatinib-resistance of renal cell carcinoma by regulation of Wnt3a-Frizzled1 axis., [RefSeq, PubMed]; Receptor for Wnt proteins (PubMed:10557084). Activated by WNT3A, WNT3, WNT1 and to a lesser extent WNT2, but apparently not by WNT4, WNT5A, WNT5B, WNT6, WNT7A or WNT7B (PubMed:10557084). Contradictory results showing activation by WNT7B have been described for mouse (By similarity). Functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:10557084). The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (PubMed:10557084). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable)., [UniProtKB, UniProtKB, PubMed]; [RBM38 Mediates the Proliferation of Acute Myeloid Leukemia Cells HL-60 by Regulating FZD1 mRNA Stability]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A4D1E8;O94815;Q549T8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005102 signaling receptor binding;GO:0005109 frizzled binding;GO:0030165 PDZ domain binding;GO:0017147 Wnt-protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:1990909 Wnt signalosome", "go_biological_process": "GO:0099054 presynapse assembly;GO:0007267 cell-cell signaling;GO:0010976 positive regulation of neuron projection development;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "Q9UP38-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A096LPI5-1", "uniprot_id": [ { "id": "GVQW2_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A096LPI5", "type": "external" } ], "mass": 11989.0, "length": 108, "protein_name": "Putative uncharacterized protein CCDC28A-AS1", "gene_name": "CCDC28A-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CCDC28A-AS1; GVQW2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein CCDC28A-AS1; GVQW motif-containing protein 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A096LPI5-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MUP6-1", "uniprot_id": [ { "id": "GS1L2_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MUP6", "type": "external" } ], "mass": 32443.0, "length": 293, "protein_name": "Germ cell-specific gene 1-like protein 2", "gene_name": "GSG1L2", "organism": "Human", "refseq_name": "germ cell-specific gene 1-like protein 2 precursor", "refseq_ac": [ { "id": "NP_001297148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001297148", "type": "external" } ], "gene_names_uniprotkb": "GSG1L2", "gene_names_refseq": "GSG1L2", "protein_names_uniprotkb": "Germ cell-specific gene 1-like protein 2; GSG1-like protein 2", "protein_names_refseq": "GSG1-like protein 2; germ cell-specific gene 1-like protein 2 precursor; germ cell-specific gene 1-like protein 2-like; putative germ cell-specific gene 1-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:644070)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "K7EL98", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A8MUP6-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94923-1", "uniprot_id": [ { "id": "GLCE_HUMAN", "url": "https://www.uniprot.org/uniprot/O94923", "type": "external" } ], "mass": 70101.0, "length": 617, "protein_name": "D-glucuronyl C5-epimerase", "gene_name": "GLCE", "organism": "Human", "refseq_name": "D-glucuronyl C5-epimerase isoform 1", "refseq_ac": [ { "id": "NP_001311022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311022", "type": "external" } ], "gene_names_uniprotkb": "GLCE; KIAA0836", "gene_names_refseq": "GLCE; HSEPI", "protein_names_uniprotkb": "D-glucuronyl C5-epimerase; 5.1.3.17; Heparan sulfate C5-epimerase; Heparin/heparan sulfate:glucuronic acid C5-epimerase; Heparosan-N-sulfate-glucuronate 5-epimerase; Hsepi", "protein_names_refseq": "D-glucuronyl C5-epimerase isoform 1; D-glucuronyl C5-epimerase; UDP-glucuronic acid epimerase; glucuronyl C5-epimerase; heparan sulfate C5-epimerase; heparan sulfate epimerase; heparin/heparan sulfate-glucuronic acid C5-epimerase; heparosan-N-sulfate-glucuronate 5-epimerase", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); cerebrovascular disease (Disease Ontology:DOID:6713)", "pathway": " (hsa:26035); (R-HSA-2022928)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10318803;10639137;10644753;10677367;10716625;11087757;11169766;11237011;11274177;11279150;11390981;12138164;12492399;15082721;15607426;15853773;16343444;17985344;18491316;19159218;20118238;20554947;21700882;22528493;23584533;25813380;28132690;28148688;28734894;30459171;30471091;30872481;31020640;31611695;31834878;32157095;32304324;32350084;32938616;33159882;33912179;33968037;34171305;34233293;34357683;35051231;35251023;35580925;35676258;37074911;7601448;9346953;9463333;9535912;9915799;9988767", "class_list": "glycogene", "function": "Converts D-glucuronic acid residues adjacent to N-sulfate sugar residues to L-iduronic acid residues, both in maturing heparan sulfate (HS) and heparin chains. This is important for further modifications that determine the specificity of interactions between these glycosaminoglycans and proteins., [UniProtKB, PubMed, PubMed, PubMed]; Elucidating the unusual reaction kinetics of D-glucuronyl C5-epimerase., [RefSeq, PubMed]; Glycolysis- and immune-related novel prognostic biomarkers of Ewing's sarcoma: glucuronic acid epimerase and triosephosphate isomerase 1., [RefSeq, PubMed]; In 82-84% of human breast tumors there is either downregulation or loss of D-glucuronyl C5-epimerase mRNA expression and significant decrease of the protein content, [RefSeq, PubMed]; Results found the expression of GLCE is significantly decreased in the brains of frontotemporal lobar degeneration cases relative to normal controls, demonstrating the potential disease relevance of the candidate gene identified. Furthermore, knockdown of GLCE in cultured human cells protects against oxidative stress induced pTDP accumulation. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate binding mode and catalytic mechanism of human heparan sulfate d-glucuronyl C5 epimerase., [RefSeq, PubMed]; The obtained data suggest an involvement of GLCE rs3865014 in breast cancer development. Heterozygous AG genotype might be a risk factor for breast cancer susceptibility in Siberian women and is associated with aggressive ER-negative and triple-negative cancer subtypes., [RefSeq, PubMed]; The regulation of GLCE expression by 2 cis-acting elements of the beta-catenin-TCF4 complex located in the enhancer region of the promoter are reported., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 6, "reported_phosphosites": 1, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 599, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 19, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q6GUQ2", "ec_number_list": [ { "id": "5.1.3.17", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.17", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding;GO:0016857 racemase and epimerase activity, acting on carbohydrates and derivatives;GO:0047464 heparosan-N-sulfate-glucuronate 5-epimerase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0030210 heparin proteoglycan biosynthetic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process;GO:0060391 positive regulation of SMAD protein signal transduction;GO:0031345 negative regulation of cell projection organization", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "O94923-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43555-1", "uniprot_id": [ { "id": "GON2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43555", "type": "external" } ], "mass": 12918.0, "length": 120, "protein_name": "Progonadoliberin-2", "gene_name": "GNRH2", "organism": "Human", "refseq_name": "progonadoliberin-2 isoform a preproprotein", "refseq_ac": [ { "id": "NP_001297149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001297149", "type": "external" } ], "gene_names_uniprotkb": "GNRH2", "gene_names_refseq": "GNRH2; GnRH-II; LH-RHII", "protein_names_uniprotkb": "Progonadoliberin-2; GnRH II; GnRH-associated peptide II; Gonadoliberin II; Gonadotropin-releasing hormone II; LH-RH II; Luliberin II; Luteinizing hormone-releasing hormone II; Progonadoliberin II", "protein_names_refseq": "GnRH-associated peptide 2; GnRH-associated peptide II; Gonadoliberin II; Gonadoliberin-2; luliberin II; luteinizing hormone-releasing hormone II; progonadoliberin II; progonadoliberin-2 isoform a preproprotein; progonadoliberin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:2797); (R-HSA-375281); (R-HSA-416476)", "pathway_count": 3, "publication_count": 53, "publication_id_list": "10191087;10567430;10727532;10861009;11015615;11707068;11726197;11742120;11753430;12039074;12045258;12120503;1333190;15951850;16182515;16268778;16339447;16754659;16923326;1709010;17095587;18434541;18515384;18577758;18936096;19006286;1905813;1922095;21657270;2244890;24715725;2558651;25811175;26398856;26774084;2841328;28941922;3086311;32994424;33114333;37894950;38194289;38260130;6090951;7649152;7937899;8188646;8664309;8702611;9300077;9305846;9419371;9770463", "class_list": "", "function": "Copper(II) Binding by the Earliest Vertebrate Gonadotropin-Releasing Hormone, the Type II Isoform, Suggests an Ancient Role for the Metal. Erratum:[Int J Mol Sci. 2021 Mar 26;22(7):3431. doi: 10.3390/ijms22073431. PMID: 33810627] Publication Status: Online-Only, [RefSeq, PubMed]; EGF-Enhanced GnRH-II Regulation in Decidual Stromal Cell Motility through Twist and N-Cadherin Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Role of gonadotropin-releasing hormone 2 and its receptor in human reproductive cancers. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Rs6051545 (GNRH2) genetic variation may result in inadequate suppression of serum testosterone during androgen deprivation therapy. This may lead to detrimental effects of androgen deprivation therapy on prognosis in men with metastatic prostate cancer., [RefSeq, PubMed]; Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones., [UniProtKB]; The effects of common variants in MDM2 and GNRH2 genes on the risk and survival of osteosarcoma in Han populations from Northwest China. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the gonadotropin-releasing hormone (GnRH) gene family. Proteins encoded by members of this gene family are proteolytically cleaved to form neuropeptides which, in part, regulate reproductive functions by stimulating the production and release of the gonadotropins follicle-stimulating hormone (FSH) and luteinizing hormone (LH). The human GNRH2 gene is predicted to encode a preproprotein from which a mature neuropeptide of 10 amino acids is cleaved. However, while the human genome retains the sequence for a functional GNRH2 decapeptide, translation of the human GNRH2 gene has not yet been demonstrated and the GNRH2 gene of chimpanzees, gorilla, and Sumatran orangutan have a premature stop at codon eight of the decapeptide sequence which suggests GNRH2 was a pseudogene in the hominid lineage. The GNRH2 gene is also believed to be a pseudogene in many other mammalian species such as mouse and cow. The receptor for this gene (GNRHR2) is predicted to be a pseudogene in human as well as many other mammalian species. The closely related GNRH1 and GNRHR1 genes are functional in human and other mammals and are generally functional in vertebrates. [provided by RefSeq, Mar 2019]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q14C68;Q14C69;Q9BYN9;Q9BYP0", "ec_number_list": [], "go_molecular_function": "GO:0005183 gonadotropin hormone-releasing hormone activity;GO:0005179 hormone activity;GO:0031530 gonadotropin-releasing hormone receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O43555-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75388-1", "uniprot_id": [ { "id": "GPR32_HUMAN", "url": "https://www.uniprot.org/uniprot/O75388", "type": "external" } ], "mass": 40087.0, "length": 356, "protein_name": "Probable G protein-coupled receptor 32", "gene_name": "GPR32", "organism": "Human", "refseq_name": "probable G-protein coupled receptor 32", "refseq_ac": [ { "id": "NP_001497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001497", "type": "external" } ], "gene_names_uniprotkb": "GPR32", "gene_names_refseq": "DRV1; GPR32; RVDR1", "protein_names_uniprotkb": "Probable G protein-coupled receptor 32", "protein_names_refseq": "probable G-protein coupled receptor 32; resolvin D1 receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:2854); (R-HSA-418555)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "11007482;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15765929;15769620;15951850;16313925;16687412;16923326;17168849;18044684;18577758;19105585;19876791;19929708;20080636;20381629;21036126;2163110;23462912;24120851;2417744;24687066;2491850;25030943;2553411;2553705;26339162;26417854;26969756;2871555;29083412;29443750;29602314;30833991;31217245;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;33141586;34339312;34699386;35051231;6085243;8340388;8514797;8672451;9263355;9417641;9651336;9653656", "class_list": "", "function": "Data suggest that resolvin D1/RVDR1 signaling (1) promotes epithelial wound repair, (2) inhibits TGFB-induced epithelial-mesenchymal transition in type II alveolar cells, (3) inhibits fibroproliferation and apoptosis, (4) reduces effects of TGFB on primary lung fibroblast collagen production, and (5) inhibits myofibroblast differentiation. (TGFB = transforming growth factor beta), [RefSeq, PubMed]; G protein-coupled receptor that binds to several ligands including resolvin D1 (RvD1) with high affinity, leading to rapid and transient activation of numerous intracellular signaling pathways. In macrophages, enhances the RvD1-stimulated phagocytic and clearance functions (PubMed:20080636). Macrophages migrate less toward different chemoattractant stimuli but phagocytose more microbial particles (PubMed:26969756). Prevents the increase in Ca(2+) and activation of ERK1/2 used by histamine and its H1 receptor subtype to induce goblet cell secretion by activating PKC and GRK2 to counter-regulate the histamine receptor (PubMed:23462912)., [UniProtKB, PubMed, PubMed, PubMed]; Our findings indicate that chitotriosidase and S10012A are useful in diagnosis and detection of subclinical inflammation and/or assessment of disease activity in FMF patients., [RefSeq, PubMed]; Results indicate that RvD1 specifically interacts with both ALX and GPR32 on phagocytes., [RefSeq, PubMed]; Results suggest that resolvin D1 inhibited TGF-beta1-induced EMT via ALX/FPR2 and GPR32 by reducing the expression of ZEB1., [RefSeq, PubMed]; SPM Receptor Expression and Localization in Irradiated Salivary Glands., [RefSeq, PubMed]; The effects of diclofenac on the incidence of pancreatitis following endoscopic retrograde cholangiopancreatography via lipoxin A4 and resolvin D1 and E1 levels is reported., [RefSeq, PubMed]; The resolvin D1 receptor GPR32 transduces inflammation resolution and atheroprotection., [RefSeq, PubMed]; This gene is intronless and encodes a member of the G-protein coupled receptor 1 family. The encoded protein binds to resolvin D1 and lipoxin A4 and has been linked to pulmonary inflammation. A related pseudogene has been identified on chromosome 19. [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q502U7;Q6NWS5", "ec_number_list": [], "go_molecular_function": "GO:0004875 complement receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0004982 N-formyl peptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002430 complement receptor mediated signaling pathway;GO:0006954 inflammatory response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "O75388-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04921-1", "uniprot_id": [ { "id": "GLPC_HUMAN", "url": "https://www.uniprot.org/uniprot/P04921", "type": "external" } ], "mass": 13811.0, "length": 128, "protein_name": "Glycophorin-C", "gene_name": "GYPC", "organism": "Human", "refseq_name": "glycophorin-C isoform 3", "refseq_ac": [ { "id": "NP_001243513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243513", "type": "external" } ], "gene_names_uniprotkb": "GYPC; GLPC; GPC", "gene_names_refseq": "CD236R; CD236; GE; GPC; GPD; GYPC; GYPD; PAS-2'; PAS-2", "protein_names_uniprotkb": "Glycophorin-C; GPD; Glycoconnectin; Glycophorin-D; Glycoprotein beta; PAS-2'; Sialoglycoprotein D", "protein_names_refseq": "Gerbich antigen; Gerbich blood group antigen; glycoconnectin; glycophorin-C isoform 3; glycophorin-D; glycoprotein beta; sialoglycoprotein D", "tax_id": 9606, "disease": "malaria (Disease Ontology:DOID:12365); malaria, susceptibility to (MONDO:MONDO:0021024); obsolete blood group, gerbich system (MONDO:MONDO:0044284)", "pathway": " (hsa:2995); (R-HSA-202733)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10.1101/2023.09.13.557529;10606205;10764623;11207550;11256994;11564780;11779189;11812992;11982968;12070135;12208882;12469115;12576308;12782713;13977437;1413665;14529530;14615387;15000751;15528364;15681301;15721307;1591491;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;1902622;19279206;19690332;1991173;21193412;21659548;22171320;23481700;2349119;23945545;24043627;2416746;24275569;24764293;2538457;25505266;25576301;2584223;25892735;2590468;27726376;2776757;2818576;28514659;28832583;2917976;29242379;29557506;30429286;30459171;31611695;31844290;32157095;32350084;32488085;32938616;34562771;35251023;3539763;3544149;3571235;3595602;3606576;3624241;4074499;468991;7106126;7509040;7521878;8163559;8166770;8219208;8314844;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "Data show that the receptor for Plasmodium falciparum erythrocyte-binding antigen 140 (EBA140) is glycophorin C (GYPC) and that this interaction mediates a principal P. falciparum invasion pathway into human erythrocytes., [RefSeq, PubMed]; Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]., [RefSeq]; Glycophorin C is identified as the receptor for PfEBP-2, the erythrocyte binding ligand of Plasmodium falciparum, and the binding domain on GPC is determined to be amino acid residues 14 through 22 within exon 2., [RefSeq, PubMed]; Novel variant in glycophorin c gene protects against ribavirin-induced anemia during chronic hepatitis C treatment., [RefSeq, PubMed]; This protein is a minor sialoglycoprotein in human erythrocyte membranes. The blood group Gerbich antigens and receptors for Plasmodium falciparum merozoites are most likely located within the extracellular domain. Glycophorin-C plays an important role in regulating the stability of red cells., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 14, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 3, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B2R522;Q53SV9;Q92642", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030863 cortical cytoskeleton", "go_biological_process": "GO:0034405 response to fluid shear stress", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "P04921-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100010000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C5Z0-1", "uniprot_id": [ { "id": "H2AB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C5Z0", "type": "external" } ], "mass": 12713.0, "length": 115, "protein_name": "Histone H2A-Bbd type 2/3", "gene_name": "H2AB2; H2AB3", "organism": "Human", "refseq_name": "histone H2A-Bbd type 2/3", "refseq_ac": [ { "id": "NP_001017991", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017991", "type": "external" } ], "gene_names_uniprotkb": "H2AB2; H2AB3; H2ABBD; H2AFB2; H2AFB3; H2AFB", "gene_names_refseq": "H2A.B.1; H2A.Bbd; H2AB2; H2AFB2", "protein_names_uniprotkb": "Histone H2A-Bbd type 2/3; H2A Barr body-deficient; H2A.Bbd", "protein_names_refseq": "H2A Barr body deficient; H2A histone family member B2; histone H2A-Bbd type 2/3", "tax_id": 9606, "disease": "", "pathway": " (hsa:474381); (hsa:83740)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "11266453;15257289;16287874;16957777;17591702;17726088;18329190;20008104;22795134;26154972;27920218;29557506;31998317", "class_list": "", "function": "Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo. They are enriched in actively transcribed genes and associate with the elongating form of RNA polymerase. They associate with spliceosome components and are required for mRNA splicing. May participate in spermatogenesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Changes in exon inclusion rates and increased presence of intronic sequences in mRNA products upon H2A.Bbd depletion., [RefSeq, PubMed]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. [provided by RefSeq, Oct 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L4E4;P98176;Q5TZB2;Q6FG78;Q96PR7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0000791 euchromatin;GO:0000786 nucleosome", "go_biological_process": "GO:0006397 mRNA processing;GO:0006334 nucleosome assembly;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P0C5Z0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CAP2-1", "uniprot_id": [ { "id": "GRL1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CAP2", "type": "external" } ], "mass": 41740.0, "length": 368, "protein_name": "DNA-directed RNA polymerase II subunit GRINL1A", "gene_name": "POLR2M", "organism": "Human", "refseq_name": "protein GRINL1A isoform 2", "refseq_ac": [ { "id": "NP_001018112", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018112", "type": "external" } ], "gene_names_uniprotkb": "POLR2M; GRINL1A", "gene_names_refseq": "GRINL1A; Gdown1; Gdown; POLR2M", "protein_names_uniprotkb": "DNA-directed RNA polymerase II subunit GRINL1A; DNA-directed RNA polymerase II subunit M; Glutamate receptor-like protein 1A", "protein_names_refseq": "glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A; polymerase (RNA) II (DNA directed) polypeptide M; polymerase (RNA) II subunit M; protein GRINL1A isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:81488)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;11474202;15175163;15233991;16769904;30190596;30379171;31020640;31492838;31530632;32157095;32387766;32938616;33592498;33936100;33968037;34357683;34741119;35048979;35051231;35154160;35513511;35580925;39603240", "class_list": "", "function": "Appears to be a stable component of the Pol II(G) complex form of RNA polymerase II (Pol II). Pol II synthesizes mRNA precursors and many functional non-coding RNAs and is the central component of the basal RNA polymerase II transcription machinery. May play a role in the Mediator complex-dependent regulation of transcription activation. Acts as a negative regulator of transcriptional activation; this repression is relieved by the Mediator complex, which restores Pol II(G) activator-dependent transcription to a level equivalent to that of Pol II., [UniProtKB, PubMed, PubMed]; Nuclear export restricts Gdown1 to a mitotic function., [RefSeq, PubMed]; The tumor suppressor MIR139 is silenced by POLR2M to promote AML oncogenesis., [RefSeq, PubMed]; This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781. [provided by RefSeq, Oct 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6EER8;Q6EES2;Q6EEV3;Q6EF00;Q6EF01;Q6EF02;Q6EF46;Q6EFN8;Q6EM48;Q6K046;Q6K050;Q6K051;Q6ZQZ3;Q8NC58;Q8NCF3;Q96DI5;Q96JB7;Q96NF5;Q9Y3V6", "ec_number_list": [], "go_molecular_function": "GO:0000993 RNA polymerase II complex binding;GO:0003711 transcription elongation factor activity", "go_cellular_component": "GO:0097550 transcription preinitiation complex;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0043025 neuronal cell body;GO:0031674 I band", "go_biological_process": "GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0006368 transcription elongation by RNA polymerase II;GO:0051685 maintenance of ER location", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P0CAP2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10412-1", "uniprot_id": [ { "id": "H14_HUMAN", "url": "https://www.uniprot.org/uniprot/P10412", "type": "external" } ], "mass": 21865.0, "length": 219, "protein_name": "Histone H1.4", "gene_name": "H1-4", "organism": "Human", "refseq_name": "histone H1.4", "refseq_ac": [ { "id": "NP_005312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005312", "type": "external" } ], "gene_names_uniprotkb": "H1-4; H1F4; HIST1H1E", "gene_names_refseq": "H1-4; H1.4; H1E; H1F4; H1s-4; HIST1H1E; RMNS; dJ221C16.5", "protein_names_uniprotkb": "Histone H1.4; Histone H1b; Histone H1s-4", "protein_names_refseq": "H1 histone family, member 4; histone 1, H1e; histone H1.4; histone H1b; histone H1s-4; histone cluster 1 H1 family member e; histone cluster 1, H1e", "tax_id": 9606, "disease": "Rahman syndrome (MONDO:MONDO:0044323)", "pathway": " (hsa:3008); (R-HSA-140342); (R-HSA-2559584)", "pathway_count": 3, "publication_count": 135, "publication_id_list": "10.1101/2023.09.13.557529;10318789;10713148;10997781;12408966;12748178;15149602;15469825;15569692;15595731;15621527;15655109;15910001;15911621;16127177;16901784;16959974;17043054;17081983;17158953;17242198;17242207;17287340;17924679;17938174;18239742;18283539;18491316;18669648;18691976;19007248;19029251;19117535;19144645;1916825;19413330;19651622;19664995;20058876;20068230;20068231;20305658;20439994;20707881;21406692;21511733;21740066;21807893;21852232;22223895;22465951;23186163;23481700;23964094;24275569;24601643;24714562;24715725;25576301;25645385;26154972;27452731;27723750;27726376;27846572;27862975;27920218;28228285;28475857;28510447;28539972;28832583;29242379;29317506;29508533;29557506;29789417;30154464;30156264;30315122;30444036;30833945;31020640;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32983136;33043033;33123756;33141586;33214551;33238161;33238524;33298915;33392160;33592498;33968037;34019948;34171305;34357683;34545082;34725712;34788807;34961760;35051231;35154160;35251023;35526384;35580925;35581345;36215666;36284347;37217939;3782055;37938771;38530350;38665916;40240600;40516528;7743181;8360479;9108473", "class_list": "", "function": "Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber (PubMed:35581345, PubMed:40240600). Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers and promote formation of the H3K27me3 mark by the PRC2/EED-EZH2 complex (PubMed:35581345, PubMed:40240600, PubMed:40516528). Ability to associate with nucleosomes and compact chromatin depends on linker DNA length and trajectory (PubMed:35581345). Also acts as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (PubMed:40240600)., [UniProtKB, PubMed, PubMed, PubMed]; Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4VB25", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042826 histone deacetylase binding;GO:0003690 double-stranded DNA binding;GO:0031490 chromatin DNA binding;GO:0031492 nucleosomal DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016607 nuclear speck;GO:0000791 euchromatin;GO:0000792 heterochromatin;GO:0000786 nucleosome", "go_biological_process": "GO:0006334 nucleosome assembly;GO:0030261 chromosome condensation;GO:0045910 negative regulation of DNA recombination", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "P10412-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43220-1", "uniprot_id": [ { "id": "GLP1R_HUMAN", "url": "https://www.uniprot.org/uniprot/P43220", "type": "external" } ], "mass": 53026.0, "length": 463, "protein_name": "Glucagon-like peptide 1 receptor", "gene_name": "GLP1R", "organism": "Human", "refseq_name": "glucagon-like peptide 1 receptor precursor", "refseq_ac": [ { "id": "NP_002053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002053", "type": "external" } ], "gene_names_uniprotkb": "GLP1R", "gene_names_refseq": "GLP-1-R; GLP-1R; GLP-1; GLP1R", "protein_names_uniprotkb": "Glucagon-like peptide 1 receptor; GLP-1 receptor; GLP-1-R; GLP-1R", "protein_names_refseq": "GLP-1 receptor; GLP1 receptor; glucagon-like peptide 1 receptor precursor; seven transmembrane helix receptor", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); hyperglycemia (Disease Ontology:DOID:4195); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2740); (R-HSA-381676); (R-HSA-418555); (R-HSA-420092)", "pathway_count": 4, "publication_count": 118, "publication_id_list": "10318832;10322410;10698200;11007482;11060443;11071853;11946536;12034449;12036966;12058044;12106601;12180353;12180908;12401793;12410638;12475787;12496249;12860470;12938160;1333056;13549488;13680124;14671004;14988243;1517224;15464082;15471943;15569269;15765929;15769620;15951850;15955806;15995848;16313925;16613879;16687412;16923326;16973695;17095603;17168849;17306374;1739432;17444618;17900700;18044684;18202100;18287102;18412318;18577758;19105585;19859570;19861722;19876791;19929708;20381629;20869417;21036126;2163110;21901419;22412906;2417744;24687066;2491850;2553411;2553705;26308095;26417854;27196125;2826231;28514449;2871555;29443750;29602314;30833991;3127824;31279028;31399091;31844290;31983287;32226383;32497535;32540603;32618402;32715661;32938616;33049737;33968037;35051231;38838642;3899557;6085243;6192430;6745415;7517895;7589426;7589461;7680413;7700244;7811244;7843404;7902709;8138058;8144028;8216285;8340388;8390245;8404634;8405712;8514797;8672451;8830891;9213353;9263355;9417641;9488697;9651336;9920805;9990065", "class_list": "", "function": "G protein-coupled receptor for glucagon-like peptide 1 (GLP-1) (PubMed:19861722, PubMed:26308095, PubMed:27196125, PubMed:28514449, PubMed:7517895, PubMed:8216285, PubMed:8405712). Ligand binding triggers activation of a signaling cascade that leads to the activation of adenylyl cyclase and increased intracellular cAMP levels (PubMed:19861722, PubMed:26308095, PubMed:27196125, PubMed:28514449, PubMed:7517895, PubMed:8216285, PubMed:8405712). Plays a role in regulating insulin secretion in response to GLP-1 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Glucagon-like peptide 1 receptor is a T cell-negative costimulatory molecule., [RefSeq, PubMed]; This gene encodes a 7-transmembrane receptor for glucagon-like peptide 1 (GLP-1), which stimulates glucose-dependent insulin secretion. The receptor, located on the cell surface, is internalized upon ligand binding and triggers signaling pathways that regulate insulin release, appetite, gastric emptying, and energy balance. It also has neuroprotective and cardiovascular effects. Polymorphisms in this gene are linked to type 2 diabetes risk, and the receptor is a key drug target for diabetes, obesity, and stroke therapies. [provided by RefSeq, Mar 2026]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q2M229;Q99669", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0017046 peptide hormone binding;GO:0004967 glucagon receptor activity;GO:0044508 glucagon-like peptide 1 receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007190 activation of adenylate cyclase activity;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007611 learning or memory", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "P43220-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47775-1", "uniprot_id": [ { "id": "GPR12_HUMAN", "url": "https://www.uniprot.org/uniprot/P47775", "type": "external" } ], "mass": 36730.0, "length": 334, "protein_name": "G protein-coupled receptor 12", "gene_name": "GPR12", "organism": "Human", "refseq_name": "G-protein coupled receptor 12", "refseq_ac": [ { "id": "NP_005279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005279", "type": "external" } ], "gene_names_uniprotkb": "GPR12", "gene_names_refseq": "GPCR12; GPCR21; GPR12; PPP1R84", "protein_names_uniprotkb": "G protein-coupled receptor 12", "protein_names_refseq": "G-protein coupled receptor 12; protein phosphatase 1, regulatory subunit 84", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2835)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "12220620;12649592;19286662;22430950;25418920;26929215;28888984;29557506;33742771;36593162;37789353;8530049", "class_list": "", "function": "Brain-specific G protein-coupled receptor involved in regulating diverse physiological processes including neurite outgrowth, meiotic arrest, and lipid and carbohydrate metabolism (By similarity). Functions as a receptor with constitutive G(s)-mediated signaling activity that stimulates cyclic AMP (cAMP) production (PubMed:36593162). Also engages the G(i)/G(o) pathway, which counteracts the cAMP increase driven by G(s) activation (PubMed:12220620). Additionally, two lipids sphingosylphosphorylcholine (SPC) and sphingosine-1-phosphate (S1P) may act as endogenous ligand and activate GPR12 (PubMed:12220620)., [UniProtKB, PubMed, UniProtKB, PubMed]; Control of gene expression in vascular endothelial cells in the presence of fluid shear stress and classifies it as a sphingosine 1-phosphate receptor, [RefSeq, PubMed]; Exosomal miR-105-5p derived from bladder cancer stem cells targets for GPR12 to promote the malignancy of bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; GPR12 inhibits migration and promotes apoptosis in esophageal cancer and hypopharyngeal cancer cells., [RefSeq, PubMed]; GPR12 may play a role in cell proliferation and survival, [RefSeq, PubMed]; Since we have demonstrated that CBD is an inverse agonist for GPR12, this provides novel mechanism of action for CBD, and an initial chemical scaffold upon which highly potent and efficacious agents acting on GPR12 may be developed with the ultimate goal of blocking cancer metastasis., [RefSeq, PubMed]; Structural insight into the constitutive activity of human orphan receptor GPR12., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5T8P3", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0031210 phosphatidylcholine binding;GO:0038036 sphingosine-1-phosphate receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "P47775-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56915-1", "uniprot_id": [ { "id": "GSC_HUMAN", "url": "https://www.uniprot.org/uniprot/P56915", "type": "external" } ], "mass": 28150.0, "length": 257, "protein_name": "Homeobox protein goosecoid", "gene_name": "GSC", "organism": "Human", "refseq_name": "homeobox protein goosecoid", "refseq_ac": [ { "id": "NP_776248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776248", "type": "external" } ], "gene_names_uniprotkb": "GSC", "gene_names_refseq": "GSC1; GSC; SAMS", "protein_names_uniprotkb": "Homeobox protein goosecoid", "protein_names_refseq": "homeobox protein goosecoid", "tax_id": 9606, "disease": "short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome (MONDO:MONDO:0011227)", "pathway": " (hsa:145258); (R-HSA-9754189); (R-HSA-9823730)", "pathway_count": 3, "publication_count": 27, "publication_id_list": "15110706;17068183;17204604;18042803;18550259;18729794;19564924;21245162;21630377;21855631;24290375;25693565;25843708;25921273;25936800;26015544;27705785;28109504;29234012;30629940;31253698;32448362;32502341;32795420;39097890;7916327;9417125", "class_list": "", "function": "5 genomic variants in GSC, HOXA2 and PRKRA were identified through mutational analysis in Chinese patients with microtia., [RefSeq, PubMed]; Goosecoid promotes pancreatic adenocarcinoma metastasis through TGF-beta signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals., [UniProtKB, PubMed]; This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]; USP21 modulates Goosecoid function through deubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]; We find that DIGIT is divergent to Goosecoid (GSC) and expressed during endoderm differentiation. Deletion of the SMAD3-occupied enhancer proximal to DIGIT inhibits DIGIT and GSC expression and definitive endoderm differentiation., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86YR1", "ec_number_list": [], "go_molecular_function": "GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0042474 middle ear morphogenesis;GO:0007369 gastrulation;GO:0014036 neural crest cell fate specification", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P56915-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13255-1", "uniprot_id": [ { "id": "GRM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13255", "type": "external" } ], "mass": 132357.0, "length": 1194, "protein_name": "Metabotropic glutamate receptor 1", "gene_name": "GRM1", "organism": "Human", "refseq_name": "metabotropic glutamate receptor 1 isoform alpha precursor", "refseq_ac": [ { "id": "NP_001264993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264993", "type": "external" } ], "gene_names_uniprotkb": "GRM1; GPRC1A; MGLUR1", "gene_names_refseq": "GPRC1A; GRM1; MGLU1; MGLUR1; PPP1R85; SCA44; SCAR13", "protein_names_uniprotkb": "Metabotropic glutamate receptor 1; mGluR1", "protein_names_refseq": "glutamate receptor, metabotropic 1; metabotropic glutamate receptor 1 isoform alpha precursor; protein phosphatase 1, regulatory subunit 85", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 13 (Disease Ontology:DOID:0080062); spinocerebellar ataxia 44 (Disease Ontology:DOID:0080286); temporal lobe epilepsy (Disease Ontology:DOID:3328); uveal melanoma (Disease Ontology:DOID:6039); skin melanoma (Disease Ontology:DOID:8923)", "pathway": " (hsa:2911); (R-HSA-416476); (R-HSA-420499); (R-HSA-6794361); (R-HSA-9717207)", "pathway_count": 5, "publication_count": 120, "publication_id_list": "10191087;10567430;10727532;10761935;10823959;10861009;10945991;11015615;11208605;11604393;11742120;11753430;11917125;12015988;12120503;1325650;1329206;14634208;15194188;15353592;15385606;15540461;15576628;15738140;15951850;16182515;16242404;16268778;16339447;16624946;16754659;16846852;16923326;16959974;17167479;17506496;17897391;18434541;18515384;18577758;18812509;18829961;18936096;1905813;19104071;19696921;20022913;20033988;20064387;20064388;20519524;20555319;21148030;21282647;21422378;21795555;22901947;23121374;23426668;23632330;23674604;24157691;24214976;24235081;24357660;24360415;24603153;24633359;24715725;25378172;25853419;26308914;26377607;27071541;27276689;28256214;2841328;28886343;29466837;29557506;29614098;29659026;29744740;30013099;30563861;3086311;31530632;32387766;35051231;35318648;35494241;36140834;36675067;7476890;7617140;7620613;7623957;7695896;7720699;7736595;7759551;7908515;7937899;8288584;8576240;8664309;8887960;9065781;9069287;9076744;9131252;9144337;9144651;9305846;9473604;9770463;9808458;9844003;9872316;9927700", "class_list": "", "function": "A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system. May participate in the central action of glutamate in the CNS, such as long-term potentiation in the hippocampus and long-term depression in the cerebellum (PubMed:24603153, PubMed:28886343, PubMed:7476890). May function in the light response in the retina (By similarity). Induces GRID1 and GRID2 cation-channel activation via GNAQ-PLC-PKC pathway in dopaminergic neurons and cerebellar Purkinje cell, respectively (PubMed:24357660, PubMed:27276689)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 1, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 1, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 73, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B9EG79;F8W805;Q13256;Q14757;Q14758;Q5VTF7;Q5VTF8;Q9NU10;Q9UGS9;Q9UGT0", "ec_number_list": [], "go_molecular_function": "GO:0001640 adenylate cyclase inhibiting G protein-coupled glutamate receptor activity;GO:0099530 G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential;GO:0004930 G protein-coupled receptor activity;GO:0008066 glutamate receptor activity;GO:0099583 neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0098839 postsynaptic density membrane;GO:0038037 G protein-coupled receptor dimeric complex", "go_biological_process": "GO:0007206 phospholipase C-activating G protein-coupled glutamate receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007626 locomotory behavior;GO:0043410 positive regulation of MAPK cascade;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q13255-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000100001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15486-1", "uniprot_id": [ { "id": "GUSP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15486", "type": "external" } ], "mass": 15381.0, "length": 140, "protein_name": "Putative inactive beta-glucuronidase-like protein SMA3", "gene_name": "GUSBP1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GUSBP1; SMA3", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative inactive beta-glucuronidase-like protein SMA3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "23481700;25576301;27397612;29557506;31154438;32387766;7977382", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NLY8;A8K1B7;Q969T8;Q9BUH2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0007399 nervous system development;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q15486-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4G0G2-1", "uniprot_id": [ { "id": "H1AS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4G0G2", "type": "external" } ], "mass": 11005.0, "length": 97, "protein_name": "Putative uncharacterized protein H1-10-AS1", "gene_name": "H1-10-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "H1-10-AS1; C3orf47; H1FX-AS1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein H1-10-AS1; H1-10 antisense RNA 1; H1FX antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q4G0G2-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4G0N0-1", "uniprot_id": [ { "id": "GGTA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4G0N0", "type": "external" } ], "mass": 11568.0, "length": 100, "protein_name": "Inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase", "gene_name": "GGTA1", "organism": "Human", "refseq_name": "inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase", "refseq_ac": [ { "id": "NP_001369513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001369513", "type": "external" } ], "gene_names_uniprotkb": "GGTA1; GGTA1P", "gene_names_refseq": "GGTA1P; GGTA1; GGTA; GLYT2; a1/3GTP", "protein_names_uniprotkb": "Inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase; Glycoprotein alpha-galactosyltransferase 1 pseudogene", "protein_names_refseq": "glycoprotein alpha-galactosyltransferase 1, pseudogene; glycoprotein, alpha-galactosyltransferase 1; inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:2681)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;11773054;12499400;24033743;25315716;29786170", "class_list": "glycogene;glycosyltransferase", "function": "A transcription of the complete gene sequence for this enzyme, [RefSeq, PubMed]; Alpha-1,3-galactosyltransferase (GGTA1) is an enzyme present in most mammals except man, apes, and Old World monkeys. This gene is thought to encode a truncated, non-enzymatic form of the GGTA1 protein that lacks the C-terminal catalytic domain. Aberrant expression of the GGTA1 protein in man can lead to autoimmune diseases and sometimes germ cell tumors. [provided by RefSeq, May 2020]., [RefSeq]; GGTA1/CMAH knockout pig samples had increased relative amounts of high-mannose, incomplete, and xylosylated N-linked glycans, [RefSeq, PubMed]; Molecular basis of evolutionary loss of the alpha 1,3-galactosyltransferase gene, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 99, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2JVH9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0032580 Golgi cisterna membrane;GO:0031985 Golgi cisterna", "go_biological_process": "GO:1901750 leukotriene D4 biosynthetic process", "synthesized_glycan_count": 43, "hit_score": 0.7, "record_id": "Q4G0N0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4ZG55-1", "uniprot_id": [ { "id": "GREB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4ZG55", "type": "external" } ], "mass": 216467.0, "length": 1949, "protein_name": "Protein GREB1", "gene_name": "GREB1", "organism": "Human", "refseq_name": "protein GREB1 isoform a", "refseq_ac": [ { "id": "NP_055483", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055483", "type": "external" } ], "gene_names_uniprotkb": "GREB1; KIAA0575", "gene_names_refseq": "GREB1", "protein_names_uniprotkb": "Protein GREB1; Gene regulated in breast cancer 1 protein", "protein_names_refseq": "gene regulated by estrogen in breast cancer; gene regulated in breast cancer 1 protein; growth regulation by estrogen in breast cancer 1; protein GREB1 isoform a; protein GREB1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9687); (R-HSA-9018519)", "pathway_count": 2, "publication_count": 160, "publication_id_list": "10500157;10828826;10873660;11010967;11034064;11103799;11136970;11165043;11237011;11345900;11410592;11452016;11581164;11682626;12498683;12612073;12959972;14631847;14675539;15001666;15276198;15282324;15343269;15345050;15514030;15986123;16009131;16046058;16087863;16113099;1630819;16496412;16980581;17013392;17277772;17463000;17495528;17510434;17637753;17666587;17690249;18187655;18219272;18256232;18322535;18358809;18476782;18533032;18762174;18805503;19001364;19020303;19098913;19274700;19295514;19321454;19383337;19718048;20219941;20220130;20498280;20570965;20682797;21106759;21151129;21445275;21573489;2181374;21835891;21878914;21934649;21940756;22056668;22265404;22492511;22545144;22704330;23145106;23172872;23192763;23303788;23403292;23435229;23481700;23723241;23906331;24167369;24371278;24715725;24735615;24854081;24885040;24973012;24998469;25296600;25365482;25433557;25542856;25633194;25663755;25674852;25728767;25892735;26056233;26153859;26154972;26204489;26462610;26479350;26768311;27062924;27600516;27886276;27920218;28218747;28539435;28904123;2919170;29331515;29437277;29557506;30315122;30410026;30429286;3045126;30484775;31092671;31217245;31844290;32157095;32488085;32585897;32629543;3281094;32894276;32938616;33298915;33592498;33912179;34087483;3498214;35051231;35318648;3677090;37658191;37938771;38253038;7559524;7935485;7937828;8195246;8197458;8419924;8876171;9201922;9338790;9388265;9611253;9671459;9731700", "class_list": "", "function": "Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that the induction of the gene regulated in breast cancer 1 (GREB1) is mediated by binding of estrogen receptor alpha to three consensus estrogen response elements spread over approximately 20 kb of upstream flanking sequences., [RefSeq, PubMed]; Estrogen receptors are recruited at several proximal and distal estrogen response elements upstream of the GREB1 transcription unit., [RefSeq, PubMed]; GREB1 is critically involved in the estrogen induced growth of breast cancer cells., [RefSeq, PubMed]; GREB1 is expressed in proliferating prostatic tissue and prostate cancer, is regulated by androgens, and suppression of GREB1 blocks androgen-induced growth suggesting GREB1 may be critically involved in prostate cancer proliferation., [RefSeq, PubMed]; GREB1 isoform 4 is specifically transcribed by MITF and required for melanoma proliferation., [RefSeq, PubMed]; GREB1 regulates PI3K/Akt signaling to control hormone-sensitive breast cancer proliferation., [RefSeq, PubMed]; May play a role in estrogen-stimulated cell proliferation. Acts as a regulator of hormone-dependent cancer growth in breast and prostate cancers., [UniProtKB]; Oncogenic mutation in RAS-RAF axis leads to increased expression of GREB1, resulting in tumor proliferation in colorectal cancer., [RefSeq, PubMed]; This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NHD0;A6NKN0;B5MDA9;O60321;Q7Z5S2;Q9H2Q6;Q9H2Q7;Q9H2Q8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q4ZG55-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53EU6-1", "uniprot_id": [ { "id": "GPAT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53EU6", "type": "external" } ], "mass": 48705.0, "length": 434, "protein_name": "Glycerol-3-phosphate acyltransferase 3", "gene_name": "GPAT3", "organism": "Human", "refseq_name": "glycerol-3-phosphate acyltransferase 3", "refseq_ac": [ { "id": "NP_001243350", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243350", "type": "external" } ], "gene_names_uniprotkb": "GPAT3; AGPAT9; HMFN0839; MAG1; PRO6492", "gene_names_refseq": "AGPAT 10; AGPAT10; AGPAT8; AGPAT9; GPAT3; HMFN0839; LPAAT-theta; MAG1", "protein_names_uniprotkb": "Glycerol-3-phosphate acyltransferase 3; 1-AGP acyltransferase 9; 1-AGPAT 9; 1-acyl-sn-glycerol-3-phosphate O-acyltransferase 10; 1-acyl-sn-glycerol-3-phosphate O-acyltransferase 9; 2.3.1.15; 2.3.1.51; AGPAT 10; Acyl-CoA:glycerol-3-phosphate acyltransferase 3; GPAT-3; LPAAT-theta; Lung cancer metastasis-associated protein 1; Lysophosphatidic acid acyltransferase theta; MAG-1; hGPAT3", "protein_names_refseq": "1-AGP acyltransferase 9; 1-AGPAT 9; 1-acyl-sn-glycerol-3-phosphate O-acyltransferase 10; 1-acyl-sn-glycerol-3-phosphate O-acyltransferase 9; 1-acylglycerol-3-phosphate O-acyltransferase 8; 1-acylglycerol-3-phosphate O-acyltransferase 9; GPAT-3; MAG-1; acyl-CoA:glycerol-3-phosphate acyltransferase 3; endoplasmic reticulum associated GPAT; glycerol-3-phosphate acyltransferase 3; hGPAT3; lung cancer metastasis-associated protein 1; lysophosphatidic acid acyltransferase theta; testis secretory sperm-binding protein Li 213e", "tax_id": 9606, "disease": "", "pathway": " (hsa:84803); (R-HSA-1483166)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10455175;10506173;10553003;10681567;11031251;11112443;11788596;11830583;12063250;12161451;12359733;12522102;12963729;12975309;14573790;15221005;15367102;16460752;16495223;16620771;16704971;16864775;17002884;17028579;17170135;17707131;18238778;18578522;18669648;18718904;19007248;19318427;19336658;19651622;19666841;20058876;20068231;20705608;21173190;22777291;22922100;23176821;23176823;23186163;23481700;23807634;24275569;24715725;24966474;25576301;25645385;26110566;26154972;26711011;27600516;27862975;2925608;29331515;29493099;29557506;29632711;29786170;29789417;30429286;30779550;30833945;30846318;31092671;31154438;31222486;31844290;31848261;31937595;31998317;32094408;32157095;32161166;32387766;32488085;32502341;32938616;32983136;33123756;33141586;33537174;33691108;33770127;33968037;34171305;34185709;34211107;3458202;35051231;35318648;35580925;36010968;36241641;36284347;36964139;7060561;7821823;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9461603;9582313", "class_list": "", "function": "Converts glycerol-3-phosphate to 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) by incorporating an acyl moiety at the sn-1 position of the glycerol backbone (PubMed:17170135). Also converts LPA into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (PubMed:19318427). Protects cells against lipotoxicity (PubMed:30846318)., [UniProtKB, PubMed, PubMed, PubMed]; Data show that 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9) inhibit cell growth by regulating expression of KLF4/LASS2/V-ATPase proteins in breast cancer., [RefSeq, PubMed]; GPAT3 regulates the synthesis of lipid intermediate LPA and exacerbates Kupffer cell inflammation mediated by the ERK signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; LPAAT-theta gene consisted of 12 exons and 11 introns, and mapped to chromosome 4q21.23, was ubiquitously expressed in 18 human tissues and overexpression of LPAAT-theta can induce mTOR-dependent p70S6K and 4EBP1 phosphorylation in HEK293T cells., [RefSeq, PubMed]; Mycobacterium leprae promotes triacylglycerol de novo synthesis through induction of GPAT3 expression in human premonocytic THP-1 cells. Publication Status: Online-Only, [RefSeq, PubMed]; Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q68CJ4;Q6GPI6;Q96NA3", "ec_number_list": [ { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "2.3.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.15", "type": "external" }, { "id": "2.3.1.121", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.121", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.n6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n6", "type": "external" }, { "id": "2.3.1.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n7", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" } ], "go_molecular_function": "GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity;GO:0004366 glycerol-3-phosphate O-acyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006654 phosphatidic acid biosynthetic process;GO:0019432 triglyceride biosynthetic process;GO:0032006 regulation of TOR signaling;GO:0006072 glycerol-3-phosphate metabolic process;GO:0016024 CDP-diacylglycerol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q53EU6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TC63-1", "uniprot_id": [ { "id": "GRTP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TC63", "type": "external" } ], "mass": 38554.0, "length": 336, "protein_name": "Growth hormone-regulated TBC protein 1", "gene_name": "GRTP1", "organism": "Human", "refseq_name": "growth hormone-regulated TBC protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001273661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273661", "type": "external" } ], "gene_names_uniprotkb": "GRTP1; TBC1D6", "gene_names_refseq": "GRTP1; TBC1D6", "protein_names_uniprotkb": "Growth hormone-regulated TBC protein 1; TBC1 domain family member 6", "protein_names_refseq": "TBC1 domain family member 6; growth hormone-regulated TBC protein 1 isoform 2", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); Ewing sarcoma (Disease Ontology:DOID:3369)", "pathway": " (hsa:79774)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;18452278;19077034;27397612;29557506;35051231;35494241;36241641", "class_list": "", "function": "May act as a GTPase-activating protein for Rab family protein(s)., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9A6K2;Q2M232;Q5TC64;Q66K26;Q6P659;Q8N528;Q9H695", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q5TC63-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P9H5-1", "uniprot_id": [ { "id": "GIMA6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P9H5", "type": "external" } ], "mass": 32949.0, "length": 292, "protein_name": "GTPase IMAP family member 6", "gene_name": "GIMAP6", "organism": "Human", "refseq_name": "GTPase IMAP family member 6 isoform 3", "refseq_ac": [ { "id": "NP_001231000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231000", "type": "external" } ], "gene_names_uniprotkb": "GIMAP6; IAN2; IAN6", "gene_names_refseq": "GIMAP6; IAN-2; IAN-6; IAN2; IAN6", "protein_names_uniprotkb": "GTPase IMAP family member 6; IAN-2; IAN-6; Immunity-associated nucleotide 2 protein; Immunity-associated nucleotide 6 protein; hIAN2; hIAN6", "protein_names_refseq": "GTPase IMAP family member 6 isoform 3; immune associated nucleotide 2; immune associated nucleotide 6; immune-associated nucleotide-binding protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:474344)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11964296;12097339;15474311;23454188;23481700;25576301;25892735;26154972;27397612;27667392;27846572;28228285;28381553;28832583;28904123;29242379;29493099;29557506;29632046;29769354;30410026;31217245;31844290;32350084;32387766;33141586;33328581;35551368;36284347;36581221;37338641;40914422", "class_list": "", "function": "A human case of GIMAP6 deficiency: a novel primary immune deficiency., [RefSeq, PubMed]; GIMAP6 plays a role in modulating immune function and that it does this by controlling cell death and the activation of T cells., [RefSeq, PubMed]; GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans., [RefSeq, PubMed]; Investigation and verification of GIMAP6 as a robust biomarker for prognosis and tumor immunity in lung adenocarcinoma., [RefSeq, PubMed]; These data,demonstrating the downregulation of the mRNA and protein expression levels of GIMAP5 and GIMAP6 in the tumor tissues and blood of patients with Hepatocellular carcinoma (HCC) , suggested the involvement of GIMAP5 and GIMAP6 in the pathogenesis of HCC, and indicate their possible use as diagnostic markers for HCC., [RefSeq, PubMed]; This gene encodes a member of the GTPases of immunity-associated proteins (GIMAP) family. GIMAP proteins contain GTP-binding and coiled-coil motifs, and may play roles in the regulation of cell survival. Decreased expression of this gene may play a role in non-small cell lung cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is found in a cluster with seven additional GIMAP genes on the long arm of chromosome 7. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9J7B6;D3DWZ4;Q5ZPR6;Q9H612", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q6P9H5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXU4-1", "uniprot_id": [ { "id": "GSG1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXU4", "type": "external" } ], "mass": 36774.0, "length": 331, "protein_name": "Germ cell-specific gene 1-like protein", "gene_name": "GSG1L", "organism": "Human", "refseq_name": "germ cell-specific gene 1-like protein isoform 1", "refseq_ac": [ { "id": "NP_001103233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103233", "type": "external" } ], "gene_names_uniprotkb": "GSG1L; PRO19651", "gene_names_refseq": "GSG1L; PRO19651", "protein_names_uniprotkb": "Germ cell-specific gene 1-like protein; GSG1-like protein", "protein_names_refseq": "GSG1-like protein; KTSR5831; germ cell-specific gene 1-like protein isoform 1; germ cell-specific gene 1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:146395)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12975309;23481700;24715725;27010727;31844290;32488085;32983136", "class_list": "", "function": "As a component of the inner core of AMPAR complex, modifies AMPA receptor (AMPAR) gating., [UniProtKB]; Gene expression experiment revealed that CYP2B6, SPON1, and GSG1L can be activated concomitantly through a constitutive androstane receptor (CAR) activation pathway Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z6F8;Q8TB81", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0098839 postsynaptic density membrane;GO:0098685 Schaffer collateral - CA1 synapse;GO:0016020 membrane", "go_biological_process": "GO:0023051 regulation of signaling;GO:0010646 regulation of cell communication;GO:0099149 regulation of postsynaptic neurotransmitter receptor internalization", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6UXU4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZVE7-1", "uniprot_id": [ { "id": "GOT1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZVE7", "type": "external" } ], "mass": 14887.0, "length": 132, "protein_name": "Vesicle transport protein GOT1A", "gene_name": "GOLT1A", "organism": "Human", "refseq_name": "vesicle transport protein GOT1A", "refseq_ac": [ { "id": "NP_940849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940849", "type": "external" } ], "gene_names_uniprotkb": "GOLT1A; GOT1B", "gene_names_refseq": "CGI-141; GOLT1A; GOT1B; GOT1; HMFN1187; YMR292W; hGOT1b", "protein_names_uniprotkb": "Vesicle transport protein GOT1A; Golgi transport 1 homolog A; hGOT1b", "protein_names_refseq": "vesicle transport protein GOT1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:127845)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "10406798;26255816;32192769", "class_list": "", "function": "GOLT1A knockdown restored tamoxifen resistance and low GOLT1A levels correlate with better survival in patients with breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; GOLT1A-KISS1 fusion is associated with metastasis in adenoid cystic carcinomas., [RefSeq, PubMed]; May be involved in fusion of ER-derived transport vesicles with the Golgi complex., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0015031 protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q6ZVE7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZVF9-1", "uniprot_id": [ { "id": "GRIN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZVF9", "type": "external" } ], "mass": 82439.0, "length": 776, "protein_name": "G protein-regulated inducer of neurite outgrowth 3", "gene_name": "GPRIN3", "organism": "Human", "refseq_name": "G protein-regulated inducer of neurite outgrowth 3", "refseq_ac": [ { "id": "NP_938022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_938022", "type": "external" } ], "gene_names_uniprotkb": "GPRIN3; KIAA2027", "gene_names_refseq": "GPRIN3; GRIN3", "protein_names_uniprotkb": "G protein-regulated inducer of neurite outgrowth 3; GRIN3", "protein_names_refseq": "G protein-regulated inducer of neurite outgrowth 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:285513)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "22833210;24715725;29493099;30429286;31844290;32983136;33254176;34171305;35051231", "class_list": "", "function": "Functional compensation could occur to counteract the loss of one allele in GRIN2C and GRIN3 family genes. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in neurite outgrowth., [UniProtKB]; MiR-6838-5p Affects Cell Growth, Migration, and Invasion by Targeting GPRIN3 via the Wnt/beta-Catenin Signaling Pathway in Gastric Cancer., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8IVE4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0031175 neuron projection development", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6ZVF9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IW92-1", "uniprot_id": [ { "id": "GLBL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IW92", "type": "external" } ], "mass": 72079.0, "length": 636, "protein_name": "Beta-galactosidase-1-like protein 2", "gene_name": "GLB1L2", "organism": "Human", "refseq_name": "beta-galactosidase-1-like protein 2 isoform b precursor", "refseq_ac": [ { "id": "NP_612351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612351", "type": "external" } ], "gene_names_uniprotkb": "GLB1L2; MSTP014; PRO236", "gene_names_refseq": "GLB1L2; MST114; MSTP114", "protein_names_uniprotkb": "Beta-galactosidase-1-like protein 2; 3.2.1.23", "protein_names_refseq": "beta-galactosidase-1-like protein 2 isoform b precursor; beta-galactosidase-1-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:89944); (R-HSA-2022857); (R-HSA-2024101); (R-HSA-9840310)", "pathway_count": 4, "publication_count": 132, "publication_id_list": "10191093;10196694;10339581;10406958;10781797;10823942;10861246;10942779;10993717;11350180;11489889;11568288;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12885774;12888274;12909021;12975309;1352293;1352993;1463457;15003450;15213228;1522213;15458386;15647514;15714521;15773042;15845354;16229686;16230343;16303743;1634229;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;1794986;1840600;18524657;1889421;1907800;1915858;19224584;1928092;19405096;1946389;19836391;19889881;2001789;20232353;20728381;2122463;22940367;235289;239890;25576301;2562955;2717620;27600516;28126847;29393594;29443946;29557506;2960521;2965147;29692406;2970528;2971395;29747811;2976757;29802621;3014515;30192525;30429286;3048308;30779550;3134052;3136930;31495489;3158659;3196333;32350084;33981976;3456607;3468507;35051231;35251023;35494241;35580925;36215666;39940;5135907;5164093;527942;5822067;7213753;738706;7504405;7628016;7730378;7744740;7852280;8213840;8281145;8370580;8399327;8573994;8591035;8663398;8804427;8889578;8955159;8985184;9217013;9223416;9338580;9520418;9521684", "class_list": "glycogene;glycosylhydrolase", "function": "Probably cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 903, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NCE6;Q6UX60;Q8NC62;Q8NCB3;Q8NCJ1;Q96HP3", "ec_number_list": [ { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" } ], "go_molecular_function": "GO:0004565 beta-galactosidase activity", "go_cellular_component": "GO:0005773 vacuole", "go_biological_process": "GO:0019388 galactose catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q8IW92-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZ08-1", "uniprot_id": [ { "id": "GP135_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZ08", "type": "external" } ], "mass": 51736.0, "length": 494, "protein_name": "G protein-coupled receptor 135", "gene_name": "GPR135", "organism": "Human", "refseq_name": "G-protein coupled receptor 135", "refseq_ac": [ { "id": "NP_072093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072093", "type": "external" } ], "gene_names_uniprotkb": "GPR135", "gene_names_refseq": "GPR135; HUMNPIIY20", "protein_names_uniprotkb": "G protein-coupled receptor 135", "protein_names_refseq": "G-protein coupled receptor 135; probable G-protein coupled receptor 135", "tax_id": 9606, "disease": "", "pathway": " (hsa:64582)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "12679517;14623098;20198315;25418920;28722770;28827538;31154438;32350084;32938616;33091337;33968037;35051231", "class_list": "", "function": "Collectively, these data show that GPR61, GPR62 and GPR135 are unable to bind melatonin, but show a reciprocal regulatory interaction with MT2 receptors. Publication Status: Online-Only, [RefSeq, PubMed]; GPR135 hypermethylation is associated with lung cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Orphan receptor. Has spontaneous activity for beta-arrestin recruitment (PubMed:28827538). Shows a reciprocal regulatory interaction with the melatonin receptor MTNR1B most likely through receptor heteromerization (PubMed:28827538)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z604;Q86SM3;Q8NH39", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:1990763 arrestin family protein binding", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8IZ08-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YT6-1", "uniprot_id": [ { "id": "MIB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YT6", "type": "external" } ], "mass": 110136.0, "length": 1006, "protein_name": "E3 ubiquitin-protein ligase MIB1", "gene_name": "MIB1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase MIB1", "refseq_ac": [ { "id": "NP_065825", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065825", "type": "external" } ], "gene_names_uniprotkb": "MIB1; DIP1; KIAA1323; ZZANK2", "gene_names_refseq": "DIP-1; DIP1; LVNC7; MIB1; MIB; ZZANK2; ZZZ6", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase MIB1; 2.3.2.27; DAPK-interacting protein 1; DIP-1; Mind bomb homolog 1; RING-type E3 ubiquitin transferase MIB1; Zinc finger ZZ type with ankyrin repeat domain protein 2", "protein_names_refseq": "DAPK-interacting protein 1; E3 ubiquitin-protein ligase MIB1; RING-type E3 ubiquitin transferase MIB1; mindbomb E3 ubiquitin protein ligase 1; ubiquitin ligase mind bomb; zinc finger ZZ type with ankyrin repeat domain protein 2", "tax_id": 9606, "disease": "left ventricular noncompaction (Disease Ontology:DOID:0060480); epilepsy (Disease Ontology:DOID:1826); left ventricular noncompaction 7 (MONDO:MONDO:0014042)", "pathway": " (hsa:57534); (R-HSA-2122948); (R-HSA-2644606); (R-HSA-2691232); (R-HSA-2894862); (R-HSA-2979096); (R-HSA-9013507)", "pathway_count": 7, "publication_count": 147, "publication_id_list": "10079256;10206645;10551863;10713164;10879540;10882063;10934472;10958687;10964718;11006133;11044625;11171333;11226752;11518718;11740940;11823422;11861489;12050117;12209127;12354787;12391150;12530964;14567914;14980219;15048887;15107403;15533827;15546612;15569487;15574878;15652348;15760269;15824097;15829515;15965470;16093323;16284625;16530044;16738328;16773578;17003037;17028573;17114293;17324930;17401372;17646408;17646409;18043734;18077452;18237417;18296446;18374649;1840698;18418349;18469519;18628966;18700817;18824583;18824585;19000840;19151708;19208840;19524514;19567869;19726682;20156974;20972443;21632553;21903422;22162134;22299025;22658935;22658936;23033978;23314057;24121310;24275569;24842903;25125655;25356737;25502872;26992070;27920218;28218747;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29493099;29557506;29856954;29856955;30410026;30429286;31020640;31154438;31217245;3153318;31844290;31848261;31851912;32157095;32161166;32350084;32357974;32387766;32897882;32938616;33109704;33141586;33298915;33592498;33633747;33912179;33936100;33968037;33981976;34087483;34357683;34932366;35051231;35154160;35580925;36010968;37209565;37405741;38252226;39121852;7566092;7588063;803282;8313469;9207787;9207788;9244301;9315665;9384573;9462510;9590294;9604939;9620803;9651681;9694793;9819428", "class_list": "", "function": "(Microbial infection) During adenovirus infection, mediates ubiquitination of Core-capsid bridging protein. This allows viral genome delivery into nucleus for infection., [UniProtKB, PubMed]; DAPK is found in two distinct immune complexes, one containing HSP90 and CHIP and a second complex containing only DIP1/Mib; strict modulation of DAPK activities by HSP90 heterocomplexes is critical for regulation of apoptosis and cellular homeostasis, [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors. Probably mediates ubiquitination and subsequent proteasomal degradation of DAPK1, thereby antagonizing anti-apoptotic effects of DAPK1 to promote TNF-induced apoptosis (By similarity). Involved in ubiquitination of centriolar satellite CEP131, CEP290 and PCM1 proteins and hence inhibits primary cilium formation in proliferating cells. Mediates 'Lys-63'-linked polyubiquitination of TBK1, which probably participates in kinase activation., [UniProtKB, PubMed]; N[6]-methyladenosine-modified MIB1 promotes stemness properties and peritoneal metastasis of gastric cancer cells by ubiquitinating DDX3X., [RefSeq, PubMed]; Neuralized-2 regulates a Notch ligand in cooperation with Mind bomb-1, [RefSeq, PubMed]; Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve., [RefSeq, PubMed]; Structural requirements for activity of Mind bomb1 in Notch signaling., [RefSeq, PubMed]; The E3 ubiquitin ligase MIB1 suppresses breast cancer cell migration through regulating CTNND1 protein level., [RefSeq, PubMed]; This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors, thereby facilitating their endocytosis. This protein may also promote the ubiquitination and degradation of death-associated protein kinase 1 (DAPK1). [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ38;Q2TB37;Q68D01;Q6YI51;Q8NBY0;Q8TCB5;Q8TCL7;Q9P2M3", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0007219 Notch signaling pathway;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q86YT6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBF9-1", "uniprot_id": [ { "id": "MYOTI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBF9", "type": "external" } ], "mass": 55395.0, "length": 498, "protein_name": "Myotilin", "gene_name": "MYOT", "organism": "Human", "refseq_name": "myotilin isoform b", "refseq_ac": [ { "id": "NP_001129412", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129412", "type": "external" } ], "gene_names_uniprotkb": "MYOT; TTID", "gene_names_refseq": "LGMD1A; LGMD1; MFM3; MYOT; TTID; TTOD", "protein_names_uniprotkb": "Myotilin; 57 kDa cytoskeletal protein; Myofibrillar titin-like Ig domains protein; Titin immunoglobulin domain protein", "protein_names_refseq": "57 kDa cytoskeletal protein; myofibrillar titin-like Ig domains protein; myotilin isoform b; titin immunoglobulin domain protein (myotilin)", "tax_id": 9606, "disease": "myofibrillar myopathy 3 (Disease Ontology:DOID:0080094); myopathy (Disease Ontology:DOID:423); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:9499)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10369880;10486214;10958653;11038172;12428213;12499399;15111675;16076904;16380616;16959974;19418025;20068231;25208129;29557506;29769354;30379171;32983136;36776921;37217939;37511242;37553249", "class_list": "", "function": "A novel in-frame deletion in MYOT causes an early adult onset distal myopathy., [RefSeq, PubMed]; Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells., [UniProtKB, PubMed]; Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle Cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0C4DFM5;A0A4R6;B4DT79", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0051393 alpha-actinin binding;GO:0008307 structural constituent of muscle;GO:0008046 axon guidance receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton;GO:0030424 axon;GO:0043025 neuronal cell body;GO:0042383 sarcolemma", "go_biological_process": "GO:0006936 muscle contraction;GO:0050808 synapse organization;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9UBF9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16695-1", "uniprot_id": [ { "id": "H31T_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16695", "type": "external" } ], "mass": 15508.0, "length": 136, "protein_name": "Histone H3.1t", "gene_name": "H3-4", "organism": "Human", "refseq_name": "histone H3.1t", "refseq_ac": [ { "id": "NP_003484", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003484", "type": "external" } ], "gene_names_uniprotkb": "H3-4; H3FT; HIST3H3", "gene_names_refseq": "H3-4; H3.4; H3/g; H3C16; H3FT; H3t; HIST3H3", "protein_names_uniprotkb": "Histone H3.1t; H3/g; H3/t; H3t; Histone H3.4", "protein_names_refseq": "H3 clustered histone 16; H3 histone family, member T; H3.4 histone; H3/t; histone 3, H3; histone H3.1t; histone H3.4; histone cluster 3 H3", "tax_id": 9606, "disease": "", "pathway": " (hsa:8290); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-201722); (R-HSA-2299718); (R-HSA-2559586); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-69473); (R-HSA-912446); (R-HSA-9670095)", "pathway_count": 16, "publication_count": 391, "publication_id_list": "10029069;10037601;10074426;10080941;10323868;10436156;10438626;10469656;10485845;10550055;10562567;10572166;10669743;10706276;10724175;10728666;10734115;10757784;10766245;10769018;10775268;10802669;10831834;10859164;10866324;10882850;10928988;10930409;10959836;10973490;11025670;11050151;11056019;11080158;11080452;11114888;11136974;11139606;11292842;11301010;11376695;11390408;11390642;11454856;11493912;11532957;11571274;11573085;11604075;11673449;11702069;11713476;11893489;11904416;11927591;11934263;11934988;11955432;11955446;11973335;11988739;12023295;12077346;12086618;12097317;12140329;12152085;12163411;12186630;12208845;12231622;12364621;12393752;12408966;12447390;12456671;12485996;12509254;12545175;12556884;12578958;12607003;12607005;12697768;12718543;12773393;12773400;12791985;12792649;12832489;12890688;12897153;12947387;12953102;14532133;14560035;14561766;14576433;14695187;15060161;15064416;15104674;15121853;15125634;15164066;15177042;15189136;15190204;15201865;15235794;15279782;15294866;15304223;15341901;15369670;15451442;15458641;15468306;15510216;15574327;15655109;15707391;15723659;15750587;15768032;15790808;15829968;16005293;16061182;16093244;16123081;16141325;16148040;16150728;16153896;16166375;16169192;16221681;16262255;16292313;16322221;16327781;16360315;16377563;16427009;16439204;16439205;16510874;16530042;16600297;16630820;16651405;16756492;16858402;16874298;16885023;16914548;17052462;17290226;17425782;17428831;17458864;17470781;17525332;17525340;17541404;17553757;17575048;17694070;17848578;17923702;17928296;17965729;17977839;17981954;18001824;18001825;18002437;18006705;18046455;18077395;18160704;18171670;18211953;18256600;18347063;18367646;18397950;18404694;18438399;18443292;18498752;18535008;18644861;18691976;18718915;18805091;18923075;18971343;19001859;19092802;19117993;19146767;19148484;19176521;19203578;19203579;19234442;1924375;19261749;19351884;19357644;19419957;19460168;19487454;19493659;19505854;19571879;19608861;19782031;19783983;20016603;20023648;20044539;20044541;20062530;20068231;20154705;20211137;20233725;20351172;20551165;20551166;20622854;20634189;20651253;20818382;20850016;20966048;21052091;21240188;21263215;21282113;21293379;21325134;21335604;21498573;21515671;21654818;21659603;21680713;21722948;21726809;21777809;21896475;21911480;22021381;22024395;22179609;22186018;22190459;22231403;22234877;22373579;22508508;22529269;22569481;22589545;22617422;22635276;22661229;22661230;22792074;22848106;22908299;22962365;22977173;22980979;22982193;23306437;23333306;23345434;2342578;23468639;23498719;23505375;23727112;23755964;23804765;2392154;24236237;24667604;25113031;25122754;25240135;25512557;25558984;25576301;25593184;25659039;25818648;25841101;26055325;26095805;26154972;26375851;27354518;27452731;28854357;28904123;29557506;29608566;30315122;30444036;30779550;30833945;31530632;31611695;31848261;31998317;32119511;32157095;32938616;32983136;33091337;33392160;33592498;33691108;33805201;33936100;33968037;34101354;34171305;34561969;35021853;35051231;35083852;35154160;35251023;35580925;36172813;7479006;8016081;8110764;8218289;8242751;8242752;8284199;8407958;8422676;8475094;8662714;8756721;8757136;8794855;8834248;8929543;8944023;8955148;9008167;9118222;9168116;9187114;9207108;9223305;9223306;9259561;9285814;9311981;9321410;9430628;9430729;9450758;9488439;9488723;9490669;9512523;9705271;9705289;9733514;9733515;9751710;9781043;9790531;9811839;9819412;9826654;9826763;9843217;9843967;9890904", "class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB]; Detection of H3K4me3 Identifies NeuroHIV Signatures, Genomic Effects of Methamphetamine and Addiction Pathways in Postmortem HIV+ Brain Specimens that Are Not Amenable to Transcriptome Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is located separately from the other H3 genes that are in the histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]., [RefSeq]; Matrix metalloproteinase-2 mediates ribosomal RNA transcription by cleaving nucleolar histones., [RefSeq, PubMed]; The unfavorable clinical outcome of COVID-19 in smokers is mediated by H3K4me3, H3K9me3 and H3K27me3 histone marks. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5K3;Q6FGU4", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0031492 nucleosomal DNA binding;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0000792 heterochromatin", "go_biological_process": "GO:0006325 chromatin organization;GO:0006334 nucleosome assembly;GO:0007284 spermatogonial cell division;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 39.4, "record_id": "Q16695-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56703-1", "uniprot_id": [ { "id": "WNT3_HUMAN", "url": "https://www.uniprot.org/uniprot/P56703", "type": "external" } ], "mass": 39645.0, "length": 355, "protein_name": "Proto-oncogene Wnt-3", "gene_name": "WNT3", "organism": "Human", "refseq_name": "proto-oncogene Wnt-3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_110380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110380", "type": "external" } ], "gene_names_uniprotkb": "WNT3; INT4", "gene_names_refseq": "INT4; TETAMS; WNT3", "protein_names_uniprotkb": "Proto-oncogene Wnt-3; Proto-oncogene Int-4 homolog", "protein_names_refseq": "WNT-3 proto-oncogene protein; proto-oncogene Int-4 homolog; proto-oncogene Wnt-3 isoform 1 precursor; proto-oncogene Wnt-3; wingless-type MMTV integration site family, member 3", "tax_id": 9606, "disease": "tetraamelia syndrome 1 (Disease Ontology:DOID:0112192)", "pathway": " (hsa:7473); (R-HSA-201681); (R-HSA-3238698); (R-HSA-373080)", "pathway_count": 4, "publication_count": 116, "publication_id_list": "10.1101/2023.09.13.557529;10097073;10198061;10694878;11029007;11031247;11231171;11237011;11297558;11357136;11433298;11448771;11493532;11604997;12098667;12205098;12223464;12559132;12717451;14636582;14872406;14981260;15084453;15208637;15454084;15459103;15498814;16116452;16280981;16364628;16554443;16602827;16645052;16678095;16678096;16723543;16971168;17108000;17117926;17141155;17234765;17397399;18077588;18160347;18160348;18193032;18193037;18423204;18430724;18801728;19000841;19442504;19566487;19619488;19837038;20004982;20477987;20533886;20826466;20966082;21383061;21554866;21725318;21725319;21768372;21875946;21886182;22000856;22014570;22027831;22041890;22046319;22094269;22094272;22108505;22411803;22653731;22773843;22784633;22888000;22952392;22983114;23148298;23256519;23260141;23791946;24190977;26902720;27615797;29632711;31154438;32534708;32548991;34608506;3616618;36480042;36576714;6950381;7797535;8082781;8167409;8198617;8244403;8262072;8386612;8397094;8557170;8612563;8732687;8770894;8906787;8985181;9064337;9135132;9391096;9501980", "class_list": "", "function": "Circulating miR-374b-5p negatively regulates osteoblast differentiation in the progression of osteoporosis via targeting Wnt3 AND Runx2., [RefSeq, PubMed]; Concurrent Wnt pathway component expression in breast and colorectal cancer., [RefSeq, PubMed]; Four Genes Predictive for the Severity of Hematological Damage Reveal a Similar Response after X Irradiation and Chemotherapy., [RefSeq, PubMed]; LINC01023 Promotes the Hepatoblastoma Tumorigenesis via miR-378a-5p/WNT3 Axis., [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:26902720). Required for normal gastrulation, formation of the primitive streak, and for the formation of the mesoderm during early embryogenesis. Required for normal formation of the apical ectodermal ridge (By similarity). Required for normal embryonic development, and especially for limb development (PubMed:14872406)., [UniProtKB, PubMed, PubMed, UniProtKB]; Ligand for members of the frizzled family of seven transmembrane receptors., [UniProtKB, UniProtKB, UniProtKB]; The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and gastric cancer through activation of the WNT-beta-catenin-TCF signaling pathway. This gene is clustered with WNT15, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008]., [RefSeq]; WNT3 hypomethylation counteracts low activity of the Wnt signaling pathway in the placenta of preeclampsia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 9696, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q2M237;Q9H1J9", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0019904 protein domain specific binding;GO:0005125 cytokine activity;GO:0048018 receptor ligand activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0071300 cellular response to retinoic acid;GO:0000902 cell morphogenesis;GO:0030182 neuron differentiation;GO:0060070 canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "P56703-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000010000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q702N8-1", "uniprot_id": [ { "id": "XIRP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q702N8", "type": "external" } ], "mass": 198561.0, "length": 1843, "protein_name": "Xin actin-binding repeat-containing protein 1", "gene_name": "XIRP1", "organism": "Human", "refseq_name": "xin actin-binding repeat-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001185550", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185550", "type": "external" } ], "gene_names_uniprotkb": "XIRP1; CMYA1; XIN", "gene_names_refseq": "CMYA1; XIRP1; Xin", "protein_names_uniprotkb": "Xin actin-binding repeat-containing protein 1; Cardiomyopathy-associated protein 1", "protein_names_refseq": "cardiomyopathy associated 1; cardiomyopathy-associated protein 1; xin actin-binding repeat-containing protein 1 isoform 2; xin actin-binding repeat-containing protein 1", "tax_id": 9606, "disease": "hypertrophic cardiomyopathy (Disease Ontology:DOID:11984)", "pathway": " (hsa:165904)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10.1101/2023.09.13.557529;15454575;16631741;16959974;19151983;19413330;20166139;23186163;23985323;24963132;26992070;29176328;29306897;29557506;29786170;31637018;31844290;32938616;33261556;33592498;34509645;34561969;34932366;35051231;35254053;35580925;36010968", "class_list": "", "function": "Abnormal CMYA1 expression affects the phosphorylation of Cx43 through the protein kinase c signaling pathway, which is involved in the regulation of gap junction intercellular communication., [RefSeq, PubMed]; Aciculin interacts with filamin C and Xin and is essential for myofibril assembly., [RefSeq, PubMed]; An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that in myofibrillar myopathies Xin protein exhibites significant alterations in their localization., [RefSeq, PubMed]; Here, we identify Xin, the protein encoded by the human gene 'cardiomyopathy associated 1'(CMYA1) as filamin c binding partner at these specialized structures where the ends of myofibrils are attached to the sarcolemma, [RefSeq, PubMed]; Protects actin filaments from depolymerization (PubMed:15454575). Required for correct cardiac intercalated disk ultrastructure via maintenance of cell-cell adhesion stability, and as a result maintains cardiac organ morphology, conductance and heart beat rhythm (By similarity). Required for development of normal skeletal muscle morphology and muscle fiber type composition (By similarity). Plays a role in regulating muscle satellite cell activation and survival, as a result promotes muscle fiber recovery from injury and fatigue (By similarity)., [UniProtKB, PubMed, UniProtKB]; Report pathogenic XIRP1/2 rare variants in arrhythmogenic disorders such as sudden unexplained nocturnal death syndrome and Brugada syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a striated muscle protein and belongs to the Xin actin-binding repeat-containing protein (XIRP) family. The protein functions to protect actin filaments during depolymerization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]., [RefSeq]; Xin and XIRP2 define a novel actin-binding motif, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0JP25;A4QPE2;Q68DF2;Q6ZTR3;Q702N9;Q8IVN7;Q8N1N3;Q8N904;Q8TCG7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005912 adherens junction;GO:0030057 desmosome", "go_biological_process": "GO:0014835 myoblast differentiation involved in skeletal muscle regeneration;GO:0007015 actin filament organization;GO:0032091 negative regulation of protein binding;GO:0008104 intracellular protein localization;GO:0014901 satellite cell activation involved in skeletal muscle regeneration", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q702N8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZM3-1", "uniprot_id": [ { "id": "ITSN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZM3", "type": "external" } ], "mass": 193461.0, "length": 1697, "protein_name": "Intersectin-2", "gene_name": "ITSN2", "organism": "Human", "refseq_name": "intersectin-2 isoform 1", "refseq_ac": [ { "id": "NP_006268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006268", "type": "external" } ], "gene_names_uniprotkb": "ITSN2; KIAA1256; SH3D1B; SWAP", "gene_names_refseq": "ITSN2; PRO2015; SH3D1B; SH3P18; SWAP; SWA", "protein_names_uniprotkb": "Intersectin-2; SH3 domain-containing protein 1B; SH3P18-like WASP-associated protein; SH3P18", "protein_names_refseq": "SH3 domain-containing protein 1B; SH3P18-like WASP-associated protein; intersectin-2 isoform 1", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059); nephrotic syndrome (Disease Ontology:DOID:1184)", "pathway": " (hsa:50618); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-9013420)", "pathway_count": 4, "publication_count": 289, "publication_id_list": "10.1101/2023.09.13.557529;10097102;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10922467;10983987;11071885;11076969;11082044;11231140;11237011;11239472;11247302;11454741;11459829;11470803;11516654;11517213;11532990;11577110;11588219;11690630;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12847086;12944396;12952949;12958364;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15144186;15252009;15260957;15318165;15339664;15350535;1535555;15473838;15502812;15502813;15556869;15592455;15649145;15671180;15703209;15728179;15802264;15895077;15916959;15951569;16103228;16159959;16215232;16326391;16410077;16459302;16460808;16497976;16516836;16707488;16723738;16798879;16880396;16903783;17018281;17035995;17158794;17267500;17360967;17389395;17456551;17494869;17504809;17512409;17522231;17540576;17609109;17681954;17696407;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18199683;18220336;18388313;18452278;1847920;18669648;18691976;18707149;18767875;18775314;18790740;18819912;18981233;19064640;19092055;19140243;19287005;19296720;19413330;19458185;19536138;19575674;19603039;19651622;1968060;19690332;19696796;19696798;19713939;19718658;19732400;19776351;19807924;19809571;19853559;19901323;20033059;20059951;20068231;20211604;20231386;20351096;20428113;20448150;20547754;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21508312;21565175;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22648170;22815487;22863004;22942912;23186163;23297414;23301498;23536704;23823722;23861397;23891661;23999003;24130457;24186068;24275569;24384571;24581490;24680432;24715725;24746795;24789820;24966051;25107275;25303366;25341920;26042225;26154972;26403691;26598620;26829388;26992070;27846572;28161632;28904123;2890644;29237092;29351928;29437277;29493099;29557506;30059200;30379171;30410026;30620550;31492838;31844290;31871319;32119511;32157095;32387766;32488085;32502341;32737221;32897882;32938616;32938750;32983136;33214551;33298915;33592498;33691108;33912179;33968037;33981976;34019948;34087483;3417785;34185709;34509645;34561969;34725712;34932366;35051231;35132862;35138101;35254053;35513511;35580925;38665916;39531497;40307207;40596516;6146630;7569928;7822302;7877694;8524399;8552632;8553074;8837779;9092476;9100026;9169477;9303539;9427626;9428629;9630982;9635431;9723620;9736607;9812899", "class_list": "", "function": "Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles (CCPs). Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR). Plays a role in dendrite formation by melanocytes (PubMed:23999003)., [UniProtKB, PubMed, PubMed, PubMed]; These findings provide the basis for further functional investigations of the ITSN/CR16 complex that may play an important role in actin remodeling and cellular invasion., [RefSeq, PubMed]; This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "O95062;Q15812;Q9HAK4;Q9NXE6;Q9NYG0;Q9NZM2;Q9ULG4", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0005509 calcium ion binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0097708 intracellular vesicle;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0030154 cell differentiation;GO:0016197 endosomal transport;GO:0150007 clathrin-dependent synaptic vesicle endocytosis", "synthesized_glycan_count": 0, "hit_score": 31.1, "record_id": "Q9NZM3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPI5-1", "uniprot_id": [ { "id": "NRK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPI5", "type": "external" } ], "mass": 26046.0, "length": 230, "protein_name": "Nicotinamide riboside kinase 2", "gene_name": "NMRK2", "organism": "Human", "refseq_name": "nicotinamide riboside kinase 2 isoform 1", "refseq_ac": [ { "id": "NP_001276046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276046", "type": "external" } ], "gene_names_uniprotkb": "NMRK2; ITGB1BP3; NRK2", "gene_names_refseq": "ITGB1BP3; MIBP; NMRK2; NRK2", "protein_names_uniprotkb": "Nicotinamide riboside kinase 2; 2.7.1.173; 2.7.1.22; Integrin beta-1-binding protein 3; MIBP; Muscle integrin-binding protein; NRK 2; Nicotinic acid riboside kinase 2; NmR-K 2; RNK 2; Ribosylnicotinamide kinase 2; Ribosylnicotinic acid kinase 2", "protein_names_refseq": "NRK 2; RNK 2; integrin beta-1-binding protein 3; muscle-specific beta 1 integrin binding protein; nicotinamide riboside kinase 2 isoform 1; nicotinic acid riboside kinase 2; nmR-K 2; ribosylnicotinamide kinase 2; ribosylnicotinic acid kinase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:27231); (R-HSA-196807)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10331643;10613898;11237011;11248244;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12790796;12941630;13563527;14516279;14966140;15090606;15137942;15381699;15674325;16118205;1637327;16690024;17402747;17604275;17641676;17868694;17914902;18411268;19531469;20388704;2129526;21504897;21699903;21933152;21994945;22701565;22822066;23212377;23230272;24717514;24847004;25531177;32157095;32906142;33087354;35447281;37770905;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). Reduces laminin matrix deposition and cell adhesion to laminin, but not to fibronectin. Involved in the regulation of PXN at the protein level and of PXN tyrosine phosphorylation. May play a role in the regulation of terminal myogenesis., [UniProtKB, PubMed, PubMed]; LncRNA like NMRK2 mRNA functions as a key molecular scaffold to enhance mitochondrial respiration of NONO-TFE3 rearranged renal cell carcinoma in an NAD[+] kinase-independent manner. Publication Status: Online-Only, [RefSeq, PubMed]; Up-regulation of NMRK2 mediated by TFE3 fusions is the key for energy metabolism adaption of Xp11.2 translocation renal cell carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZKR3;Q52M81;Q9NZK3", "ec_number_list": [ { "id": "2.7.1.173", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.173", "type": "external" }, { "id": "2.7.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.22", "type": "external" } ], "go_molecular_function": "GO:0050262 ribosylnicotinamide kinase activity;GO:0061769 nicotinate riboside kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0034355 NAD+ biosynthetic process via the salvage pathway;GO:1901847 nicotinate metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9NPI5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13683-1", "uniprot_id": [ { "id": "ITA7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13683", "type": "external" } ], "mass": 128948.0, "length": 1181, "protein_name": "Integrin alpha-7", "gene_name": "ITGA7", "organism": "Human", "refseq_name": "integrin alpha-7 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001138468", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138468", "type": "external" } ], "gene_names_uniprotkb": "ITGA7; PRO768", "gene_names_refseq": "ITGA7", "protein_names_uniprotkb": "Integrin alpha-7", "protein_names_refseq": "integrin alpha 7 chain; integrin alpha-7 isoform 1 precursor", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); muscular disease (Disease Ontology:DOID:0080000); congenital muscular dystrophy due to integrin alpha-7 deficiency (Disease Ontology:DOID:0110639); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); cancer (Disease Ontology:DOID:162); epilepsy (Disease Ontology:DOID:1826); arteriosclerosis (Disease Ontology:DOID:2349)", "pathway": " (hsa:3679); (R-HSA-216083); (R-HSA-3000157); (R-HSA-3000178)", "pathway_count": 4, "publication_count": 160, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10209034;10339611;10366422;10403775;10438935;10543983;10593924;10605720;10640428;10673326;10673366;10694445;10713152;10811134;10982388;11054877;11084047;11158588;11237011;11259413;11518510;11572855;11713259;11964076;11980922;12225811;12237301;12496264;12585966;12682293;12807887;12975309;1376317;14715956;15075323;15240572;15296743;15330449;15340161;15345499;15383545;1544908;15713743;1588291;15899827;16002701;16051604;16239428;16293224;16413178;16493581;16581764;16731529;16754661;16933105;17339034;17588949;17641293;17968485;1839357;18710925;18775695;18940796;19159218;19502598;20033473;2010551;2059554;20705068;21642437;21789315;22134916;22493504;22539938;22779914;22884367;23374253;2364322;2412224;2420006;2430969;25418920;25576301;25645385;26992070;27600516;27862975;27893789;29242379;29557506;29789417;30568303;30779550;31154438;31217245;31222486;31844290;31848261;32157095;32387766;32488085;32938616;32983136;33392160;33592498;33912179;33981976;35051231;35194895;35430343;35580925;36010968;36241641;36444867;37074911;38174862;38523597;3997977;6193777;6439184;7499434;7505120;7525578;7527058;7541634;7542249;7542669;7559467;7685013;7693733;7852349;8002934;8118028;8126096;8344274;8440685;8560266;8626012;8798654;8838667;8910476;8943283;9245798;9251239;9252349;9294172;9307969;9341124;9346959;9352853;9443892;9473524;9565552;9590299;9645947;9685393;9858236;9949188", "class_list": "", "function": "CircITGA7 regulates malignant phenotypes in bladder cancer cells via targeting miR-330-3p/KLF10 axis., [RefSeq, PubMed]; ITGA7 loss drives the differentiation of adipose-derived mesenchymal stem cells to cancer-associated fibroblasts., [RefSeq, PubMed]; ITGA7, CD133, ALDH1 are inter-correlated, and linked with poor differentiation, lymph node metastasis as well as worse survival in surgical cervical cancer., [RefSeq, PubMed]; Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less active on laminin 1 (In vitro). Acts as a Schwann cell receptor for laminin-2. Acts as a receptor of COMP and mediates its effect on vascular smooth muscle cells (VSMCs) maturation (By similarity). Required to promote contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells., [UniProtKB, PubMed, PubMed, PubMed]; Integrin alpha7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice., [RefSeq, PubMed]; The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009]., [RefSeq]; The relationship among integrin alpha 7, CD133 and Nestin as well as their correlation with clinicopathological features and prognosis in astrocytoma patients., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 8, "disease_count": 7, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4E3U0;C9JMD3;C9JMZ6;O43197;Q86W93;Q9NY89;Q9UET0;Q9UEV2", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0008305 integrin complex", "go_biological_process": "GO:0007229 integrin-mediated signaling pathway;GO:0007160 cell-matrix adhesion;GO:0098609 cell-cell adhesion;GO:0007517 muscle organ development;GO:0050900 leukocyte migration", "synthesized_glycan_count": 0, "hit_score": 17.3, "record_id": "Q13683-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78423-1", "uniprot_id": [ { "id": "X3CL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P78423", "type": "external" } ], "mass": 42203.0, "length": 397, "protein_name": "Fractalkine", "gene_name": "CX3CL1", "organism": "Human", "refseq_name": "fractalkine isoform 1 precursor", "refseq_ac": [ { "id": "NP_002987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002987", "type": "external" } ], "gene_names_uniprotkb": "CX3CL1; A-152E5.2; FKN; NTT; SCYD1", "gene_names_refseq": "ABCD-3; C3Xkine; CX3CL1; CXC3C; CXC3; NTN; NTT; SCYD1; fractalkine; neurotactin", "protein_names_uniprotkb": "Fractalkine; C-X3-C motif chemokine 1; CX3C membrane-anchored chemokine; Neurotactin; Small-inducible cytokine D1", "protein_names_refseq": "C-X3-C motif chemokine 1; CX3C membrane-anchored chemokine; chemokine (C-X3-C motif) ligand 1; fractalkine isoform 1 precursor; small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin); small inducible cytokine subfamily D (Cys-X3-Cys), member-1; small-inducible cytokine D1", "tax_id": 9606, "disease": "polymyositis (Disease Ontology:DOID:0080745); Parkinsonism (Disease Ontology:DOID:0080855); dermatomyositis (Disease Ontology:DOID:10223); common cold (Disease Ontology:DOID:10459); portal hypertension (Disease Ontology:DOID:10762); uveitis (Disease Ontology:DOID:13141); cystitis (Disease Ontology:DOID:1679); status epilepticus (Disease Ontology:DOID:1824); transient cerebral ischemia (Disease Ontology:DOID:224); nephrosis (Disease Ontology:DOID:2527); asthma (Disease Ontology:DOID:2841); acute pancreatitis (Disease Ontology:DOID:2913); glomerulonephritis (Disease Ontology:DOID:2921); ischemia (Disease Ontology:DOID:326); atopic dermatitis (Disease Ontology:DOID:3310); systemic scleroderma (Disease Ontology:DOID:418); rhinitis (Disease Ontology:DOID:4483); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); borna disease (Disease Ontology:DOID:5154); pulmonary hypertension (Disease Ontology:DOID:6432); prion disease (Disease Ontology:DOID:649); rheumatoid arthritis (Disease Ontology:DOID:7148); myocarditis (Disease Ontology:DOID:820); lung disease (Disease Ontology:DOID:850); Cor pulmonale (Disease Ontology:DOID:8515); chronic fatigue syndrome (Disease Ontology:DOID:8544); hepatopulmonary syndrome (Disease Ontology:DOID:900); pulmonary embolism (Disease Ontology:DOID:9477); polyarteritis nodosa (Disease Ontology:DOID:9810)", "pathway": " (hsa:6376); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 91, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1038/emboj.2013.79;10229797;10640743;10706668;10725696;10725697;10770945;10781587;11007482;11060282;11237011;12055230;12120503;12149255;12554737;12884299;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;19838169;20002784;2078213;21829356;22171320;2217207;23125415;23584533;23765988;2423119;24789099;2534964;25745166;27098399;2748346;27653778;28035807;2834384;28845524;29557506;2970963;29741879;30237853;30459171;3098319;31848261;32157095;32582936;3260265;32983136;33592498;33936100;33968037;35051231;37074911;38715600;38760287;39062768;40930100;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8849694;9024663;9164944;9166430;9169459;9177350;9207005;9276730;9390561;9463416;9618518;9782118;9931005", "class_list": "", "function": "(Microbial infection) Mediates the cytoadherence of erythrocytes infected with parasite P.falciparum (strain 3D7) with endothelial cells by interacting with P.falciparum CBP1 and CBP2 expressed at the surface of erythrocytes (PubMed:27653778). The adhesion prevents the elimination of infected erythrocytes by the spleen (Probable)., [UniProtKB, PubMed]; CX3CL1 exerts numerous effects on pathophysiological conditions that have both negative and positive consequences on pathogenesis and outcome [review] Review article, [RefSeq, PubMed]; Chemokine CX3CL1 (Fractalkine) Signaling and Diabetic Encephalopathy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Chemokine that acts as a ligand for both CX3CR1 and integrins ITGAV:ITGB3 and ITGA4:ITGB1 (PubMed:12055230, PubMed:21829356, PubMed:23125415, PubMed:9782118, PubMed:9931005). The CX3CR1-CX3CL1 signaling exerts distinct functions in different tissue compartments, such as immune response, inflammation, cell adhesion and chemotaxis (PubMed:12055230, PubMed:9024663, PubMed:9177350, PubMed:9782118). Regulates leukocyte adhesion and migration processes at the endothelium (PubMed:9024663, PubMed:9177350). Can activate integrins in both a CX3CR1-dependent and CX3CR1-independent manner (PubMed:23125415, PubMed:24789099). In the presence of CX3CR1, activates integrins by binding to the classical ligand-binding site (site 1) in integrins (PubMed:23125415, PubMed:24789099). In the absence of CX3CR1, binds to a second site (site 2) in integrins which is distinct from site 1 and enhances the binding of other integrin ligands to site 1 (PubMed:23125415, PubMed:24789099)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Deciphering the role of CX3CL1-CX3CR1 in aortic aneurysm pathogenesis: insights from Mendelian randomization and transcriptomic analyses. Publication Status: Online-Only, [RefSeq, PubMed]; Relationship between aggressive features of oral squamous cell carcinoma and the immunoexpression of CX3CR1, CX3CL1 and ITGAV., [RefSeq, PubMed]; The membrane-bound form promotes adhesion of those leukocytes to endothelial cells., [UniProtKB, PubMed]; The soluble form is chemotactic for T-cells and monocytes, but not for neutrophils., [UniProtKB, PubMed]; This gene belongs to the CX3C subgroup of chemokines, characterized by the number of amino acids located between the conserved cysteine residues. This is the only member of the CX3C subgroup, which contains three amino acids between cysteine residues, resulting in a Cys-X-X-X-Cys configuration. The encoded protein contains an extended mucin-like stalk with a chemokine domain on top, and exists in both a membrane-anchored form where it acts as a binding molecule, or, in soluble form, as a chemotactic cytokine. The mature form of this protein can be cleaved at the cell surface, yielding different soluble forms that can interact with the G-protein coupled receptor, C-X3-C motif chemokine receptor 1 gene product. This gene plays a role in a wide range of diseases, including cancer, vasculitis, neuropathies, atherosclerosis, inflammatory diseases, and in human immunodeficiency virus infections. [provided by RefSeq, Sep 2017]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring; diagnostic", "glycan_count": 13, "disease_count": 29, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "O00672", "ec_number_list": [], "go_molecular_function": "GO:0031737 CX3C chemokine receptor binding;GO:0005102 signaling receptor binding;GO:0005178 integrin binding;GO:0042056 chemoattractant activity;GO:0008009 chemokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0050902 leukocyte adhesive activation;GO:1904141 positive regulation of microglial cell migration;GO:1903979 negative regulation of microglial cell activation;GO:0032233 positive regulation of actin filament bundle assembly;GO:0051041 positive regulation of calcium-independent cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "P78423-1", "record_type": "protein", "filter_code": "1100000.1100111.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZW5-1", "uniprot_id": [ { "id": "PALS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZW5", "type": "external" } ], "mass": 61117.0, "length": 540, "protein_name": "Protein PALS2", "gene_name": "PALS2", "organism": "Human", "refseq_name": "protein PALS2", "refseq_ac": [ { "id": "NP_001289966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289966", "type": "external" } ], "gene_names_uniprotkb": "PALS2; MPP6; VAM1", "gene_names_refseq": "MPP6; PALS2; VAM-1; VAM1; p55T", "protein_names_uniprotkb": "Protein PALS2; MAGUK p55 subfamily member 6; Membrane protein, palmitoylated 6; VAM-1; Veli-associated MAGUK 1", "protein_names_refseq": "MAGUK p55 subfamily member 6; MAGUK protein p55T; VELI-associated MAGUK 1; membrane palmitoylated protein 6; membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6); protein PALS2; protein associated with LIN7 2, MAGUK family member; protein associated with Lin7 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51678)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;11311936;15592455;23301498;23481700;24714562;25576301;26154972;26728094;26992070;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29508533;29557506;30315122;30484775;31844290;32161166;32350084;32488085;32502341;32938616;33141586;33691108;33912179;33968037;33981976;34357683;35051231;35154160;35580925;36215666;36241641;37207207;38565536", "class_list": "", "function": "Elevated MPP6 expression correlates with an unfavorable prognosis, angiogenesis and immune evasion in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]., [RefSeq]; Mex-3 RNA binding family member A (MEX3A)/circMPP6 complex promotes colorectal cancer progression by inhibiting autophagy. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D157;Q9H0E1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0043226 organelle", "go_biological_process": "GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9NZW5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3KQU3-1", "uniprot_id": [ { "id": "MA7D1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3KQU3", "type": "external" } ], "mass": 92820.0, "length": 841, "protein_name": "MAP7 domain-containing protein 1", "gene_name": "MAP7D1", "organism": "Human", "refseq_name": "MAP7 domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001273294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273294", "type": "external" } ], "gene_names_uniprotkb": "MAP7D1; KIAA1187; PARCC1; PP2464; RPRC1", "gene_names_refseq": "MAP7D1; PARCC1; RPRC1", "protein_names_uniprotkb": "MAP7 domain-containing protein 1; Arginine/proline-rich coiled-coil domain-containing protein 1; Proline/arginine-rich coiled-coil domain-containing protein 1", "protein_names_refseq": "MAP7 domain-containing protein 1 isoform 2; MAP7 domain-containing protein 1; arginine/proline rich coiled-coil 1; arginine/proline-rich coiled-coil domain-containing protein 1; proline arginine rich coiled coil 1; proline/arginine-rich coiled-coil domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55700)", "pathway_count": 1, "publication_count": 92, "publication_id_list": "11230166;11237011;15498874;15561729;16565220;16964243;17081983;18212344;18669648;18691976;19007248;19413330;19415658;19651622;19664994;19664995;19690332;19691289;20058876;20068231;21406692;23186163;23301498;23481700;24275569;24366607;24714562;24715725;25576301;26024233;26154972;26992070;27600516;27846572;27862975;27920218;28063628;28657654;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;29880710;30315122;30379171;30770434;30779550;30833945;31154438;31373491;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32387766;32488085;32502341;32938616;32983136;33123756;33141586;33298915;33592498;33633747;33716151;33912179;33936100;33968037;33981976;34019948;34211107;35051231;35251023;35254053;35580925;35705054;36284347;37217939;37938771;38665916;40596516", "class_list": "", "function": "Genome-wide 5-Hydroxymethylcytosine Profiling Analysis Identifies MAP7D1 as A Novel Regulator of Lymph Node Metastasis in Breast Cancer., [RefSeq, PubMed]; Here we show that in HeLa cells, the paralogous MT-associated proteins Map7 and Map7D1 (Map7/7D1) form an interdependent regulatory loop with Disheveled, the critical signal transducer in Wnt signaling, [RefSeq, PubMed]; MAP7 proteins are microtubule-tethered kinesin-1 activators, with which the motor transiently interacts as it moves along microtubules., [RefSeq, PubMed]; Microtubule-stabilizing protein involved in the control of cell motility and neurite outgrowth. Facilitate microtubule stabilization through the maintenance of acetylated stable microtubules., [UniProtKB, UniProtKB]", "predicted_glycosites": 5, "predicted_n_glycosites": 0, "predicted_o_glycosites": 5, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 54, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "D3DPS4;Q7L8J5;Q8N905;Q8TAK0;Q9HBQ2;Q9NW29;Q9ULN3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005819 spindle;GO:0015630 microtubule cytoskeleton;GO:0030496 midbody", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q3KQU3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3MHD2-1", "uniprot_id": [ { "id": "LSM12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3MHD2", "type": "external" } ], "mass": 21701.0, "length": 195, "protein_name": "Protein LSM12", "gene_name": "LSM12", "organism": "Human", "refseq_name": "protein LSM12 isoform 3", "refseq_ac": [ { "id": "NP_689557", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689557", "type": "external" } ], "gene_names_uniprotkb": "LSM12", "gene_names_refseq": "LSM12; PNAS-135", "protein_names_uniprotkb": "Protein LSM12", "protein_names_refseq": "protein LSM12 homolog; protein LSM12 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:124801)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;19413330;19664995;19690332;20058876;21740066;23186163;24275569;25418920;25576301;26992070;27920218;28510447;28832583;28855257;28904123;29557506;29632046;30429286;30524438;30779550;31092671;31217245;31844290;32157095;32350084;32387766;32502341;32938616;33214551;33362237;33592498;33968037;33981976;34019948;34362892;34932366;35051231;35449073;35580925;36241641;36284347;37303493;37607218;37938771", "class_list": "", "function": "Convergent activation of two-pore channels mediated by the NAADP-binding proteins JPT2 and LSM12., [RefSeq, PubMed]; Identification of RNA-splicing factor Lsm12 as a novel tumor-associated gene and a potent biomarker in Oral Squamous Cell Carcinoma (OSCC). Publication Status: Online-Only, [RefSeq, PubMed]; LSM12 facilitates the progression of colorectal cancer by activating the WNT/CTNNB1 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; LSM12-EPAC1 defines a neuroprotective pathway that sustains the nucleocytoplasmic RAN gradient. Publication Status: Online-Only, [RefSeq, PubMed]; Lsm12 is an NAADP receptor and a two-pore channel regulatory protein required for calcium mobilization from acidic organelles. Publication Status: Online-Only, [RefSeq, PubMed]; Nicotinic acid adenine dinucleotide phosphate (NAADP) binding protein (PubMed:34362892). Confers NAADP sensitivity to the two pore channel complex (TPCs) by acting as TPC accessory protein necessary for NAADP-evoked Ca(2+) release (PubMed:34362892)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86YB1;Q96NL5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q3MHD2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00754-1", "uniprot_id": [ { "id": "MA2B1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00754", "type": "external" } ], "mass": 113744.0, "length": 1011, "protein_name": "Lysosomal alpha-mannosidase", "gene_name": "MAN2B1", "organism": "Human", "refseq_name": "lysosomal alpha-mannosidase isoform 1 precursor", "refseq_ac": [ { "id": "NP_000519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000519", "type": "external" } ], "gene_names_uniprotkb": "MAN2B1; LAMAN; MANB", "gene_names_refseq": "LAMAN; MAN2B1; MANB", "protein_names_uniprotkb": "Lysosomal alpha-mannosidase; 3.2.1.24; Laman; Lysosomal acid alpha-mannosidase; Mannosidase alpha class 2B member 1; Mannosidase alpha-B", "protein_names_refseq": "lysosomal acid alpha-mannosidase; lysosomal alpha-mannosidase isoform 1 precursor; lysosomal alpha-mannosidase; mannosidase alpha-B; mannosidase, alpha B, lysosomal", "tax_id": 9606, "disease": "alpha-mannosidosis (Disease Ontology:DOID:3413)", "pathway": " (hsa:4125); (R-HSA-6798695); (R-HSA-8853383)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10513892;11237011;11350179;12718372;12754519;15712269;1576208;16115860;16848760;16919251;17420068;17979865;18507432;18512783;19159218;19722277;21505070;21645202;22161967;22299025;22661428;23090970;23345538;23481700;23650620;23719902;24190977;24353136;24714562;25345101;25502872;25505266;25741867;25762455;26048034;26375851;26992070;27090790;27397612;27726376;27846572;27862975;27920218;28063628;28228285;28467828;28832583;28871256;28904123;29242379;29314611;29317506;29393594;29508533;29557506;29632046;29741879;29786170;30192525;30429286;30573663;30626607;31020640;31154438;31217245;31241255;31611695;31844290;31848261;32157095;32161166;32162841;32350084;32362897;32387766;32502341;32897882;32938616;32983136;33043033;33091337;33141586;33298915;33392160;33592498;33691108;33717175;33936100;33968037;34019948;34078123;34089345;34171305;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35254053;35289036;35561310;35580925;36010968;36160623;36284347;37074911;37938771;38243728;38665916;38800253;39280098;4358183;724292;7832746;8166692;8692836;8910458;9158146;9192839;9370301;9384606;9758606;9915946", "class_list": "glycogene;glycosylhydrolase", "function": "A diagnosis can be established by measuring the activity of lysosomal alpha-mannosidase in leucocytes and screening for abnormal urinary excretion of mannose-rich oligosaccharides. Genetic confirmation is obtained with the identification of MAN2B1 mutations., [RefSeq, PubMed]; A novel heterozygous mutation (c.2013G>A; p.R638H) of MANBA was identified in patients with autosomal-dominant nystagmus. An additional mutation (c.2346T>A; p.L749H) in MANBA was found by screening patients with sporadic nystagmus., [RefSeq, PubMed]; Can hydrolyze a variety of glycan substrates containing terminal alpha-mannosidic linkages. Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues on oligosaccharides generated by N-glycoprotein degradation pathways., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Our results indicate a correlation between the MAN2B1 genotypes and the cognitive function, upper limb coordination, balance, FVC% and the storage of oligosaccharides in CSF. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 11, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 10, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 11, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 11, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1536, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 63, "disease_count": 1, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "G5E928;O15330;Q16680;Q93094;Q9BW13", "ec_number_list": [ { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0004559 alpha-mannosidase activity;GO:0003824 catalytic activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0005764 lysosome;GO:0035578 azurophil granule lumen", "go_biological_process": "GO:0006013 mannose metabolic process;GO:0006516 glycoprotein catabolic process;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "O00754-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011000.101.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6JVE5-1", "uniprot_id": [ { "id": "LCN12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6JVE5", "type": "external" } ], "mass": 21500.0, "length": 192, "protein_name": "Epididymal-specific lipocalin-12", "gene_name": "LCN12", "organism": "Human", "refseq_name": "epididymal-specific lipocalin-12 precursor", "refseq_ac": [ { "id": "NP_848631", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848631", "type": "external" } ], "gene_names_uniprotkb": "LCN12", "gene_names_refseq": "LCN12", "protein_names_uniprotkb": "Epididymal-specific lipocalin-12", "protein_names_refseq": "epididymal-specific lipocalin-12 precursor; epididymal-specific lipocalin-12; epididymis secretory sperm binding protein; lipocalcin 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:286256); (R-HSA-804914)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "10518211;11237011;12235169;12556534;15363845;16504339;19946382;20124557;29557506;3453108;39894887;7684291;7918467;9878842", "class_list": "", "function": "Binds all-trans retinoic acid and may act as a retinoid carrier protein within the epididymis. May play a role in male fertility (By similarity)., [UniProtKB]; Members of the lipocalin family, such as LCN12, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2AMJ7", "ec_number_list": [], "go_molecular_function": "GO:0001972 retinoic acid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q6JVE5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y561-1", "uniprot_id": [ { "id": "LRP12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y561", "type": "external" } ], "mass": 94984.0, "length": 859, "protein_name": "Low-density lipoprotein receptor-related protein 12", "gene_name": "LRP12", "organism": "Human", "refseq_name": "low-density lipoprotein receptor-related protein 12 isoform b precursor", "refseq_ac": [ { "id": "NP_001129175", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129175", "type": "external" } ], "gene_names_uniprotkb": "LRP12; ST7", "gene_names_refseq": "ALS28; LRP12; MIG13A; ST7", "protein_names_uniprotkb": "Low-density lipoprotein receptor-related protein 12; LDLR-related protein 12; LRP-12; Suppressor of tumorigenicity 7 protein", "protein_names_refseq": "LDLR-related protein 12; low-density lipoprotein receptor-related protein 12 isoform b precursor; low-density lipoprotein receptor-related protein 12; suppressor of tumorigenicity 7 protein", "tax_id": 9606, "disease": "oculopharyngodistal myopathy (Disease Ontology:DOID:0081296); oculopharyngodistal myopathy 1 (Disease Ontology:DOID:0081297); amyotrophic lateral sclerosis type 28 (Disease Ontology:DOID:0081382)", "pathway": " (hsa:29967); (R-HSA-975634)", "pathway_count": 2, "publication_count": 84, "publication_id_list": "10.1101/2023.09.13.557529;10052934;10769148;11060341;11181758;11237011;11274389;1279089;12809483;15358783;1542003;15583000;16200213;16939223;17525477;17644776;18087047;18295589;18460466;18507396;1856611;19014918;19139408;20166139;20439316;21106934;21851338;22299025;22645359;23090970;24106281;24190977;25502872;27920218;2793848;28218747;28467828;28832583;28855257;28904123;29242379;29317506;29493099;29557506;30029672;30573663;31332380;31530632;31844290;32157095;32350084;32387766;32488085;32493488;32938616;32983136;33043033;33298915;33592498;33912179;33936100;33968037;34357683;35051231;35154160;35251023;36010968;3714052;37330909;37339631;3942763;4345202;5057882;5675424;6420172;6961410;7683668;8017323;8384721;8728311;9888420;9920938;9925661;9927190", "class_list": "", "function": "As the preplate separates, Lrp12/Mig13a-positive neurons polarize in the radial plane and form a pseudocolumnar pattern, prior to moving to a deeper position within the emerging subplate layer., [RefSeq, PubMed]; CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis., [RefSeq, PubMed]; GGC repeat expansions in LRP12 gene is associated with oculopharyngodistal myopathy., [RefSeq, PubMed]; LRP12 DNA methylation as a powerful predictive marker for carboplatin resistance. Publication Status: Online-Only, [RefSeq, PubMed]; LRP12 is an endogenous transmembrane inactivator of alpha4 integrins., [RefSeq, PubMed]; Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12. Publication Status: Online-Only, [RefSeq, PubMed]; Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor., [UniProtKB, PubMed]; ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways., [RefSeq, PubMed]; This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 57, "reported_interactions": 0, "missing_score": 9803, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K137;B4DRQ2", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0005041 low-density lipoprotein particle receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0006897 endocytosis;GO:0007165 signal transduction;GO:0031175 neuron projection development;GO:0040008 regulation of growth;GO:0001764 neuron migration", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q9Y561-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95970-1", "uniprot_id": [ { "id": "LGI1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95970", "type": "external" } ], "mass": 63818.0, "length": 557, "protein_name": "Leucine-rich glioma-inactivated protein 1", "gene_name": "LGI1", "organism": "Human", "refseq_name": "leucine-rich glioma-inactivated protein 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001295204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295204", "type": "external" } ], "gene_names_uniprotkb": "LGI1; EPT; PRO1569", "gene_names_refseq": "ADLTE; ADPAEF; ADPEAF; DEE121; EPITEMPIN; EPT; ETL1; IB1099; LGI1", "protein_names_uniprotkb": "Leucine-rich glioma-inactivated protein 1; Epitempin-1", "protein_names_refseq": "epitempin-1; leucine-rich glioma-inactivated protein 1 isoform 2 precursor; leucine-rich glioma-inactivated protein 1", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 121 (Disease Ontology:DOID:0051090); familial temporal lobe epilepsy 1 (Disease Ontology:DOID:0060748); epilepsy (Disease Ontology:DOID:1826); temporal lobe epilepsy (Disease Ontology:DOID:3328); epilepsy with generalized tonic-clonic seizures (Disease Ontology:DOID:7725)", "pathway": " (hsa:9211); (R-HSA-5682910)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "11237011;11810107;11978770;12205652;12601709;12771268;12975309;15047712;15079010;16518856;16787412;16990550;17067999;17296837;17387609;17562837;18625862;18628660;18974846;19191227;19552651;20162351;20220021;20461023;21829378;27066583;29557506;30484775;35051231;35494241;36304459;37074911;38253038;38473828;38663634;38700985;39029408;40455867;41000458;9879993", "class_list": "", "function": "Activity-driven synaptic translocation of LGI1 controls excitatory neurotransmission., [RefSeq, PubMed]; Characterization of cardiac bradyarrhythmia associated with LGI1-IgG autoimmune encephalitis. Publication Status: Online-Only, [RefSeq, PubMed]; Familial mesial temporal lobe epilepsy phenotype is associated with novel LGI1 variants: A report of two families., [RefSeq, PubMed]; Leucine-Rich Glioma-Inactivated 1 (LGI1) Protein Stimulates Proliferation and IL-10 Production in Peripheral Blood Mononuclear Cells of Patients with LGI1 Antibody-Mediated Autoimmune Encephalitis In Vitro. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations cause autosomal-dominant partial epilepsy with auditory features, [RefSeq, PubMed]; Mutations in LGI1 causes autosomal dominant lateral temporal epilepsy, [RefSeq, PubMed]; Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 that positively regulates synaptic transmission mediated by AMPA-type glutamate receptors (By similarity). Plays a role in suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway (PubMed:15047712)., [UniProtKB, PubMed]; The downregulation of Kv1 channels in Lgi1[-/-]mice is accompanied by a profound modification of its interactome and a parallel decrease in Kv2 channels., [RefSeq, PubMed]; This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K0Z1;B4E1S0;Q5W001;Q5W002;Q8NI23;Q96LF5", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0007399 nervous system development;GO:0030307 positive regulation of cell growth;GO:0031175 neuron projection development;GO:0007411 axon guidance;GO:0050806 positive regulation of synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "O95970-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UE6-1", "uniprot_id": [ { "id": "LRRT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UE6", "type": "external" } ], "mass": 58641.0, "length": 522, "protein_name": "Leucine-rich repeat transmembrane neuronal protein 1", "gene_name": "LRRTM1", "organism": "Human", "refseq_name": "leucine-rich repeat transmembrane neuronal protein 1 precursor", "refseq_ac": [ { "id": "NP_849161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_849161", "type": "external" } ], "gene_names_uniprotkb": "LRRTM1; PRO1309", "gene_names_refseq": "LRRTM1", "protein_names_uniprotkb": "Leucine-rich repeat transmembrane neuronal protein 1", "protein_names_refseq": "leucine-rich repeat transmembrane neuronal 1 protein; leucine-rich repeat transmembrane neuronal protein 1 precursor; leucine-rich repeat transmembrane neuronal protein 1", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:347730); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11604393;12676565;12975309;15540461;16242404;16624946;16846852;17667961;17897391;18812509;18829961;19125365;19125366;20064387;20064388;20519524;21282647;21708131;24785688;25111784;25378172;28321770;29393594;32350084;35051231;7695896;7736595;8576240;9069287;9808458;9927700", "class_list": "", "function": "CTNNA1 and CTNNA2 contain alternative 5' exons linked to bidirectional promoters that are shared with the antisense oriented LRRTM2 and LRRTM1 genes, respectively., [RefSeq, PubMed]; Continuity between schizophrenia and schizotypy exists with regard to the psychological effects of allelic variation in LRRTM1, and epigenetic variation in the imprinted gene mediates the development and expression of human handedness., [RefSeq, PubMed]; Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation, acting at both pre- and postsynaptic level., [UniProtKB]; Functional cerebral asymmetries in the language domain are associated with the rs6733871 LRRTM1 polymorphism during cognitive control and top-down attention mechanisms., [RefSeq, PubMed]; Hypomethylation of the paternally inherited LRRTM1 promoter is linked to schizophrenia., [RefSeq, PubMed]; LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia., [RefSeq, PubMed]; Whether or not LRRTM1 on chromosome 2p12 is indeed the genetic basis of handedness is still unclear, although the controversy of the claim seems indisputable., [RefSeq, PubMed]; While we agree (and indeed first proposed) that the variation underlying psychosis is intrinsically related to the cerebral torque, which we take to be the anatomical basis of language, we are unconvinced by the data for LRRTM1., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 9718, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K397;D6W5K1;Q96DN1", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0030424 axon;GO:0030426 growth cone", "go_biological_process": "GO:0051965 positive regulation of synapse assembly", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q86UE6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D0S4-1", "uniprot_id": [ { "id": "LAMB4_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D0S4", "type": "external" } ], "mass": 193540.0, "length": 1761, "protein_name": "Laminin subunit beta-4", "gene_name": "LAMB4", "organism": "Human", "refseq_name": "laminin subunit beta-4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001304975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975", "type": "external" } ], "gene_names_uniprotkb": "LAMB4", "gene_names_refseq": "LAMB4", "protein_names_uniprotkb": "Laminin subunit beta-4; Laminin beta-1-related protein", "protein_names_refseq": "laminin beta-1-related protein; laminin subunit beta-4 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:22798)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19401682;24715725;25257191;25787250;26992070;28595269;29557506;33392160;36284347;37992812", "class_list": "", "function": "Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components., [UniProtKB]; Laminin beta4 is a constituent of the cutaneous basement membrane zone and additional autoantigen of anti-p200 pemphigoid., [RefSeq, PubMed]; Loss of LAMB4 expression was identified in 17-32% of the GC and CRC. Of note, the loss expression was more common in the cancers with LAMB4 mutation or those with MSI-H., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; We identified a rare single nucleotide variant in the laminin beta 4 gene (LAMB4) that segregated with familial diverticulitis in a dominant pattern and causes a damaging missense substitution (D435N). Targeted sequencing of LAMB4 in 148 non-familial and unrelated sporadic diverticulitis patients identified two additional rare variants in the gene., [RefSeq, PubMed]", "predicted_glycosites": 14, "predicted_n_glycosites": 14, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 78, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "A5PKU6;B2RTT3;B5MEB9;Q86TP7;Q86XN2;Q8NBX5", "ec_number_list": [], "go_molecular_function": "GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005615 extracellular space;GO:0005604 basement membrane;GO:0005608 laminin-3 complex;GO:0005576 extracellular region", "go_biological_process": "GO:0034446 substrate adhesion-dependent cell spreading;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "A4D0S4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDB8-1", "uniprot_id": [ { "id": "GTR14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDB8", "type": "external" } ], "mass": 56320.0, "length": 520, "protein_name": "Solute carrier family 2, facilitated glucose transporter member 14", "gene_name": "SLC2A14", "organism": "Human", "refseq_name": "solute carrier family 2, facilitated glucose transporter member 14 isoform a", "refseq_ac": [ { "id": "NP_001273162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273162", "type": "external" } ], "gene_names_uniprotkb": "SLC2A14; GLUT14", "gene_names_refseq": "GLUT14; SLC2A14; SLC2A3P3", "protein_names_uniprotkb": "Solute carrier family 2, facilitated glucose transporter member 14; GLUT-14; Glucose transporter type 14", "protein_names_refseq": "glucose transporter type 14; solute carrier family 2 (facilitated glucose transporter), member 14; solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3; solute carrier family 2, facilitated glucose transporter member 14 isoform a", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:144195); (R-HSA-189200)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10.1101/2023.09.13.557529;10821868;10860667;10970791;10987651;11133510;11237011;11245466;11247674;11425315;11583593;11681785;11741323;11780755;11832379;11994746;12504846;12590146;12885248;1415574;14614622;14739288;14997204;15033637;15607332;15902306;16154905;16550171;17050778;1756912;17635959;18063724;18327257;1918382;20068231;20616166;21107422;21940664;22212718;22421804;22521588;23481700;25645385;26154972;26183839;2656669;26650681;26811146;27460888;28904123;28971850;29242379;29314611;29393594;29557506;30573663;30885992;31611695;32162841;32938616;32983136;33043033;33968037;34932366;35051231;35154160;35251023;38253038;8457197;9354798;9751501", "class_list": "glycogene", "function": "Facilitative glucose transporter that can also mediate the uptake of various other monosaccharides across the cell membrane. Mediates the uptake of glucose, 2-deoxyglucose, galactose, mannose, xylose and fucose, and probably also dehydroascorbate. Does not mediate fructose transport., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Hexose transporter that can mediate the transport of glucose and dehydroascorbate across the cell membrane., [UniProtKB, PubMed]; High expression of GLUT-14 was associated with Gastric Adenocarcinoma., [RefSeq, PubMed]; Members of the glucose transporter (GLUT) family, including SLC2A14, are highly conserved integral membrane proteins that transport hexoses such as glucose and fructose into all mammalian cells. GLUTs show tissue and cell-type specific expression (Wu and Freeze, 2002 [PubMed 12504846]).[supplied by OMIM, Mar 2008]., [RefSeq]; Report presents an expanded SLC2A14 gene locus and a more diverse tissue expression, concurring with the existing evidence for disease associations, [RefSeq, PubMed]; SLC2A14 polymorphism has a possible role in changing the genetic susceptibility to late Alzheimer disease age of onset in a Han Chinese population., [RefSeq, PubMed]; Three alleles in the SLC2A14 gene associated independently with inflammatory bowel disease., [RefSeq, PubMed]; Under hypoxia and HIF1 blockade, cancer cells adapt their energy metabolism via upregulation of the GLUT14 glucose transporter and creatine metabolism providing new avenues for drug targeting., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 609, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B3KVB5;B3KWW7;B7Z844;B7ZAC3;Q6UY84;Q8TDB9", "ec_number_list": [], "go_molecular_function": "GO:0033300 dehydroascorbic acid transmembrane transporter activity;GO:0055056 D-glucose transmembrane transporter activity;GO:0022857 transmembrane transporter activity;GO:0005536 D-glucose binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0043204 perikaryon;GO:0042995 cell projection", "go_biological_process": "GO:0070837 dehydroascorbic acid transport;GO:1904659 D-glucose transmembrane transport;GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q8TDB8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000011001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHW5-1", "uniprot_id": [ { "id": "GPN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHW5", "type": "external" } ], "mass": 32761.0, "length": 284, "protein_name": "GPN-loop GTPase 3", "gene_name": "GPN3", "organism": "Human", "refseq_name": "GPN-loop GTPase 3 isoform 2", "refseq_ac": [ { "id": "NP_001157844", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157844", "type": "external" } ], "gene_names_uniprotkb": "GPN3; AD-009; ATPBD1C; PRO4319", "gene_names_refseq": "ATPBD1C; GPN3", "protein_names_uniprotkb": "GPN-loop GTPase 3; 3.6.5.-; ATP-binding domain 1 family member C", "protein_names_refseq": "ATP-binding domain 1 family member C; GPN-loop GTPase 3 isoform 2; protein x 0004", "tax_id": 9606, "disease": "", "pathway": " (hsa:51184)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "10931946;11237011;12975309;16533400;20864038;21768307;21782856;22645359;23301498;23481700;24715725;25241168;25418920;25469497;26154972;26375851;26811146;26929215;26992070;27600516;27920218;28228285;28510447;28832583;28834231;28904123;29029378;29242379;29393594;29493099;29557506;29632046;30315122;30429286;31431135;31844290;32157095;32357974;32387766;32488085;32938616;33141586;33298915;33537174;33633747;33912179;33936100;33968037;34087483;34171305;34185709;34357683;34509645;34932366;35580925;36010968;36215666;36241641;37938771", "class_list": "", "function": "Data show that GPN1/GPN3 define a new family of small GTPases that are specialized for the transport of RNA polymerase II into the nucleus., [RefSeq, PubMed]; Gpn1-Gpn3 interaction was essential to maintain steady-state protein levels of both GTPases, [RefSeq, PubMed]; Our analysis of public data revealed that Gpn3 overexpression was associated with a significant decrease in overall survival in patients with estrogen receptor-positive and Human epidermal growth factor receptor 2 (HER2+) breast cancer, supporting our proposal that targeting Gpn3 could potentially benefit patients with breast cancer., [RefSeq, PubMed]; Parcs/Gpn3 plays a critical role in the nuclear accumulation of RNAP II, and this function explains the relative importance of Parcs/Gpn3 in cell proliferation., [RefSeq, PubMed]; Results indicate that polyubiquitination on lysine 216 is a regulatory process for proteasomal degradation of Gpn3 that is not in a complex with Gpn1, a critical partner of Gpn3 in human cells., [RefSeq, PubMed]; Small GTPase involved in the correct assembly of RNA polymerase II (RNAPII) complex, ensuring proper nuclear import of RNAPII., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Small GTPase involved in the correct assembly of RNA polymerase II complex, ensuring their proper nuclear import of RNAPII., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RC54;D4YWV1;F5H759;Q53FS3;Q6UVZ6;Q7Z3D3;Q8NEI2;Q96HK9", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9UHW5-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BX40-1", "uniprot_id": [ { "id": "LS14B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BX40", "type": "external" } ], "mass": 42071.0, "length": 385, "protein_name": "Protein LSM14 homolog B", "gene_name": "LSM14B", "organism": "Human", "refseq_name": "protein LSM14 homolog B", "refseq_ac": [ { "id": "NP_653304", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653304", "type": "external" } ], "gene_names_uniprotkb": "LSM14B; C20orf40; FAM61B; RAP55B", "gene_names_refseq": "C20orf40; FAM61B; FT005; LSM13; LSM14B; RAP55B; bA11M20.3", "protein_names_uniprotkb": "Protein LSM14 homolog B; RNA-associated protein 55B; hRAP55B", "protein_names_refseq": "LSM14 homolog B; LSM14B, SCD6 homolog B; RNA-associated protein 55B; family with sequence similarity 61, member B; hRAP55B; protein LSM14 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:149986)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;18212344;18669648;18723115;20068231;22645359;23186163;24397554;24715725;25576301;26375851;26811146;26992070;27846572;27920218;28228285;28832583;28904123;29242379;29393594;29493099;29557506;30429286;30524438;31217245;31422817;31844290;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33968037;34019948;34087483;34561969;35051231;35580925;36010968", "class_list": "", "function": "mRNA-binding protein essential for female fertility, oocyte meiotic maturation and the assembly of MARDO (mitochondria-associated ribonucleoprotein domain), a membraneless compartment that stores maternal mRNAs in oocytes. Ensures the proper accumulation and clearance of mRNAs essential for oocyte meiotic maturation and the normal progression from Meiosis I to Meiosis II in oocytes. Promotes the translation of some oogenesis-related mRNAs. Regulates the expression and/or localization of some key P-body proteins in oocytes. Essential for the assembly of the primordial follicle in the ovary., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6PFW8;Q96LH8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0036464 cytoplasmic ribonucleoprotein granule;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006417 regulation of translation;GO:0001541 ovarian follicle development;GO:0048477 oogenesis;GO:0140694 membraneless organelle assembly;GO:1903537 meiotic cell cycle process involved in oocyte maturation", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9BX40-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15880-1", "uniprot_id": [ { "id": "RS2_HUMAN", "url": "https://www.uniprot.org/uniprot/P15880", "type": "external" } ], "mass": 31324.0, "length": 293, "protein_name": "Small ribosomal subunit protein uS5", "gene_name": "RPS2", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS5", "refseq_ac": [ { "id": "NP_002943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002943", "type": "external" } ], "gene_names_uniprotkb": "RPS2; RPS4", "gene_names_refseq": "LLREP3; RPS2; S2; uS5", "protein_names_uniprotkb": "Small ribosomal subunit protein uS5; 40S ribosomal protein S2; 40S ribosomal protein S4; Protein LLRep3", "protein_names_refseq": "40S ribosomal protein S2; 40S ribosomal protein S4; OK/KNS-cl.6; protein LLRep3; small ribosomal subunit protein uS5", "tax_id": 9606, "disease": "", "pathway": " (hsa:6187); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-3214858); (R-HSA-6790901); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-8876725); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 24, "publication_count": 348, "publication_id_list": "10358005;10364207;10606270;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11081632;11237011;11265756;11331269;11341840;11448779;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11747826;11751582;11756452;11922599;11935223;11964406;11978965;12068309;12150911;12417715;12417735;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15104674;15199136;15317934;15385533;15473865;15485929;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16118227;16186820;16209946;16284618;16381836;16452507;16469117;16601204;16622410;16630668;16738141;16782898;16912115;16989641;17053788;17081983;17142313;17189298;17215844;17267404;17287340;17352659;17353269;17363904;17412707;17636026;17726049;17803942;17893241;17898714;18065403;18066079;18079182;18166647;18230761;18256688;18285520;18369606;18404153;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18974281;19007248;19033376;19060897;19106111;19150429;19234465;19332556;19359157;19413330;19417104;19463982;19478851;19503078;19556969;19564402;19608861;19608919;19651622;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20047967;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;20951943;21029861;21036871;21063389;21097556;21145460;21316606;21419344;21584310;21740066;21774791;22072790;22121020;22174690;22190735;22195017;22231400;22645359;22855488;22916032;23035226;23085078;2308862;23186163;23217742;23234702;23269699;23349634;23391857;23439679;23482395;23555621;23636399;23746841;2388630;24086612;24366607;24424021;24524803;24550520;24714562;24715725;25114211;25132172;25144183;25231979;25242263;25411247;25416781;25432065;25469497;25525153;25653167;25851604;25969445;26085946;26154972;26196125;26237581;26545399;26811146;26992070;27084949;27526673;27697862;27846572;27862975;28065601;28132843;28510447;28685749;28904123;29237092;29413899;29437277;29493099;29557506;30059200;30293783;30410026;30484775;30530495;30620550;30804176;31020640;31217245;31373491;31492838;31844290;31981475;32099016;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33080218;33091337;33123756;33141586;33188728;33214551;33245768;33268501;33298915;33392160;33465208;33479166;33592498;33633747;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34211107;34315815;34348161;34357683;34373319;34469731;34509645;34624207;34725712;34932366;35051231;35083852;35138101;35154160;35212607;35251023;35254053;35318648;35513511;35561310;35580925;36010968;36215666;36241641;36284347;36302773;36610391;37217939;37541260;37938771;38181486;38665916;38838015;39395807;39531497;39947182;39947183;40307207;40596516;40914422;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8706699;8890909;8943342;9045610;9211906;9211966;9431993;9482744;9512526;9631292;9637248;9642256;9712840;9732867;9857202", "class_list": "", "function": "Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules (PubMed:23636399). The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain (PubMed:23636399). The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel (PubMed:23636399). Plays a role in the assembly and function of the 40S ribosomal subunit (By similarity). Mutations in this protein affects the control of translational fidelity (By similarity). Involved in nucleolar processing of pre-18S ribosomal RNA and ribosome assembly (By similarity)., [UniProtKB, PubMed, UniProtKB]; DNA methylation-mediated epigenetic regulation of oncogenic RPS2 as a novel therapeutic target and biomarker in hepatocellular carcinoma., [RefSeq, PubMed]; PDCD2 functions as an evolutionarily conserved chaperone dedicated for the 40S ribosomal protein uS5 (RPS2)., [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; Silencing of long chain noncoding RNA paternally expressed gene (PEG10) inhibits the progression of neuroblastoma by regulating microRNA-449a (miR-449a)/ribosomal protein S2 (RPS2) axis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2R5G0;D3DU82;Q3MIB1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0019899 enzyme binding;GO:0045296 cadherin binding;GO:0017134 fibroblast growth factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0006412 translation;GO:0051443 positive regulation of ubiquitin-protein transferase activity;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 35.6, "record_id": "P15880-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NC56-1", "uniprot_id": [ { "id": "LEMD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NC56", "type": "external" } ], "mass": 56975.0, "length": 503, "protein_name": "LEM domain-containing protein 2", "gene_name": "LEMD2", "organism": "Human", "refseq_name": "LEM domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001137416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137416", "type": "external" } ], "gene_names_uniprotkb": "LEMD2", "gene_names_refseq": "CTRCT42; LEM2; LEMD2; MARUPS; NET25; dJ482C21.1", "protein_names_uniprotkb": "LEM domain-containing protein 2; hLEM2", "protein_names_refseq": "LEM domain containing 2; LEM domain-containing protein 2 isoform 2; LEM domain-containing protein 2; hLEM2; lamina-associated polypeptide-emerin-MAN1 domain containing 2", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); cataract 46 juvenile-onset (Disease Ontology:DOID:0110243); Emery-Dreifuss muscular dystrophy (Disease Ontology:DOID:11726); Marbach-Rustad progeroid syndrome (MONDO:MONDO:0859147)", "pathway": " (hsa:221496); (R-HSA-2980766); (R-HSA-2995383); (R-HSA-4419969); (R-HSA-9668328)", "pathway_count": 5, "publication_count": 119, "publication_id_list": "10.1101/2023.09.13.557529;10908652;11237011;11285238;11792822;12493765;15546916;15681850;15889145;16303743;16339967;16371512;16495336;16704422;16861033;17081983;17097643;17158099;17170708;17420445;17924679;18318008;18452278;18628300;18669648;18694939;19415658;19494125;19494126;19620630;19651622;19851445;20068231;20166139;20576617;20711181;20876142;21081492;21406692;21413788;21795390;2188730;2188731;22134922;22424782;22770216;22986494;23186163;2344612;23481700;24190977;25645385;26040712;26040713;26154972;26375851;26768311;26788539;27846572;27862975;27875273;28228285;28242692;28832583;29242379;29331515;29493099;29508533;29557506;29632711;29786170;30315122;30429286;30513301;30524438;30905398;31154438;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32494070;32502341;32897882;32938616;32983136;33123756;33298915;33319920;33392160;33592498;33691108;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;35051231;35251023;35318648;35580925;36241641;36284347;36377660;36656966;37074911;37938771;38665916;7937898;8034666;8463284;9465049", "class_list": "", "function": "LEM2 phase separation promotes ESCRT-mediated nuclear envelope reformation, [RefSeq, PubMed]; Loss of function of the nuclear envelope protein LEMD2 causes DNA damage-dependent cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear lamina-associated inner nuclear membrane protein that is involved in nuclear structure organization, maintenance of nuclear envelope (NE) integrity and NE reformation after mitosis (PubMed:16339967, PubMed:17097643, PubMed:28242692, PubMed:32494070). Plays a role as transmembrane adapter for the endosomal sorting complexes required for transport (ESCRT), and is thereby involved in ESCRT-mediated NE reformation (PubMed:28242692, PubMed:32494070). Promotes ESCRT-mediated NE closure by recruiting CHMP7 and downstream ESCRT-III proteins IST1/CHMP8 and CHMP2A to the reforming NE during anaphase (PubMed:28242692). During nuclear reassembly, condenses into a liquid-like coating around microtubule spindles and coassembles with CHMP7 to form a macromolecular O-ring seal at the confluence between membranes, chromatin, and the spindle to facilitate early nuclear sealing (PubMed:32494070). Plays a role in the organization of heterochromatin associated with the NE and in the maintenance of NE organization under mechanical stress (By similarity). Required for embryonic development and involved in regulation of several signaling pathways such as MAPK and AKT (By similarity). Required for myoblast differentiation involving regulation of ERK signaling (By similarity). Essential for cardiac homeostasis and proper heart function (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SATB2-LEMD2 interaction links nuclear shape plasticity to regulation of cognition-related genes., [RefSeq, PubMed]; The Role of the LEMD2 p.L13R Mutation in Dilated Cardiomyopathy., [RefSeq, PubMed]; This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DVH5;E7EVT2;Q5T972;Q5T974", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005819 spindle;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0000785 chromatin", "go_biological_process": "GO:0035914 skeletal muscle cell differentiation;GO:0051898 negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0006998 nuclear envelope organization;GO:0022008 neurogenesis;GO:0060914 heart formation", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q8NC56-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQU5-1", "uniprot_id": [ { "id": "PAK6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQU5", "type": "external" } ], "mass": 74869.0, "length": 681, "protein_name": "Serine/threonine-protein kinase PAK 6", "gene_name": "PAK6", "organism": "Human", "refseq_name": "serine/threonine-protein kinase PAK 6", "refseq_ac": [ { "id": "NP_001122100", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122100", "type": "external" } ], "gene_names_uniprotkb": "PAK6; PAK5", "gene_names_refseq": "BUB1B-PAK6", "protein_names_uniprotkb": "Serine/threonine-protein kinase PAK 6; 2.7.11.1; PAK-5; PAK-6; p21-activated kinase 6", "protein_names_refseq": "serine/threonine-protein kinase PAK 6", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); clear cell renal cell carcinoma (Disease Ontology:DOID:4467)", "pathway": " (hsa:106821730); (hsa:56924); (R-HSA-428540); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013405); (R-HSA-9013407); (R-HSA-9013424)", "pathway_count": 8, "publication_count": 310, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10805734;10873802;10958683;11007481;11058585;11085924;11149925;11237011;11278661;11306516;11368848;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11707441;11756552;11773441;11784792;11803464;11804587;11804589;11804590;11809807;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12432077;12464619;12531887;12546821;12547822;12577064;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;14521508;14573606;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15550393;15579468;15601624;15611138;15728722;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16959974;16968698;17028588;17064668;17077126;17145773;17196961;17214551;17244649;17344846;17355222;17583407;17599059;17702745;17765681;17804252;17916560;17932950;17976533;18006505;18045877;18056264;18218625;18249095;18347018;18363964;18396277;18426980;18642328;18653540;18786931;18835169;18838382;18929667;19269969;19494238;19605563;19664994;19673492;19713215;19934221;20054820;20184954;20400958;20460433;20679435;20810653;20851766;21148482;21454492;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22298643;22339630;22407364;22461490;22475431;22571869;22608513;22665057;22734669;22970203;23087206;23096567;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23940355;24086303;24102721;24259668;24335996;24352566;24352656;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25576301;25704760;25721503;25746724;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26811146;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27852748;27862975;28028151;28114311;28196833;28486133;28825699;28860633;28947137;29089502;29311810;29358323;29382922;29510700;29557506;29776664;30061681;30429286;30779550;30853411;31154438;31871319;32157095;32203420;32983136;33392160;33981976;35051231;35251023;36010968;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8945468;8990121;8994827;9013646;9099726;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9659915;9670022;9778532;9792683;9822598;9829970;9843499;9846874;9988689", "class_list": "", "function": "Serine/threonine protein kinase that plays a role in the regulation of gene transcription. The kinase activity is induced by various effectors including AR or MAP2K6/MAPKK6. Phosphorylates the DNA-binding domain of androgen receptor/AR and thereby inhibits AR-mediated transcription. Also inhibits ESR1-mediated transcription. May play a role in cytoskeleton regulation by interacting with IQGAP1. May protect cells from apoptosis through phosphorylation of BAD., [UniProtKB, PubMed, PubMed]; This gene represents readthrough transcription between the genes BUB1B (mitotic checkpoint serine/threonine-protein kinase BUB1 beta) and PAK6 (serine/threonine-protein kinase PAK 6). The protein encoded by the readthrough transcripts is the same as the product of the downstream gene (PAK6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K2G2;B3KYB0;G5E9R2", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "1.16.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.13", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0045296 cadherin binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0014069 postsynaptic density;GO:0001650 fibrillar center", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0006355 regulation of DNA-templated transcription;GO:0006915 apoptotic process;GO:0007010 cytoskeleton organization;GO:0009267 cellular response to starvation", "synthesized_glycan_count": 0, "hit_score": 31.1, "record_id": "Q9NQU5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04350-1", "uniprot_id": [ { "id": "TBB4A_HUMAN", "url": "https://www.uniprot.org/uniprot/P04350", "type": "external" } ], "mass": 49586.0, "length": 444, "protein_name": "Tubulin beta-4A chain", "gene_name": "TUBB4A", "organism": "Human", "refseq_name": "tubulin beta-4A chain isoform 1", "refseq_ac": [ { "id": "NP_001276052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276052", "type": "external" } ], "gene_names_uniprotkb": "TUBB4A; TUBB4; TUBB5", "gene_names_refseq": "DYT4; TUBB4A; TUBB4; beta-5", "protein_names_uniprotkb": "Tubulin beta-4A chain; Tubulin 5 beta; Tubulin beta-4 chain", "protein_names_refseq": "dystonia 4, torsion (autosomal dominant); tubulin beta-4 chain; tubulin beta-4A chain isoform 1; tubulin, beta 4; tubulin, beta, 5", "tax_id": 9606, "disease": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (Disease Ontology:DOID:0050997); ptosis (Disease Ontology:DOID:0060260); hypomyelinating leukodystrophy 6 (Disease Ontology:DOID:0060798); torsion dystonia 4 (Disease Ontology:DOID:0090041); complex cortical dysplasia with other brain malformations 7 (Disease Ontology:DOID:0090132); tubulinopathy (Disease Ontology:DOID:0112227); facial paralysis (Disease Ontology:DOID:13934); demyelinating disease (Disease Ontology:DOID:3213)", "pathway": " (hsa:10382); (R-HSA-1445148); (R-HSA-190840); (R-HSA-190861); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-2565942); (R-HSA-3371497); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-389957); (R-HSA-389960); (R-HSA-389977); (R-HSA-437239); (R-HSA-5610787); (R-HSA-5620912); (R-HSA-5620920); (R-HSA-5620924); (R-HSA-5626467); (R-HSA-5663220); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811436); (R-HSA-68877); (R-HSA-8852276); (R-HSA-8854518); (R-HSA-8955332); (R-HSA-9609690); (R-HSA-9609736); (R-HSA-9619483); (R-HSA-9646399); (R-HSA-9648025); (R-HSA-9668328); (R-HSA-983189); (R-HSA-9833482)", "pathway_count": 38, "publication_count": 859, "publication_id_list": 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"class_list": "", "function": "A de novo mutation in the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum., [RefSeq, PubMed]; Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India., [RefSeq, PubMed]; Mutation in the beta-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism., [RefSeq, PubMed]; This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]., [RefSeq]; This study demonistrated that TUBB4A mutation in the autoregulatory domain cause hereditary dystonia., [RefSeq, PubMed]; Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KQP4;Q969E5", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0005509 calcium ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0033269 internode region of axon;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0000226 microtubule cytoskeleton organization;GO:0031115 negative regulation of microtubule polymerization;GO:0007017 microtubule-based process", "synthesized_glycan_count": 0, "hit_score": 86.3, "record_id": "P04350-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3X6-1", "uniprot_id": [ { "id": "LCORL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3X6", "type": "external" } ], "mass": 66964.0, "length": 602, "protein_name": "Ligand-dependent nuclear receptor corepressor-like protein", "gene_name": "LCORL", "organism": "Human", "refseq_name": "ligand-dependent nuclear receptor corepressor-like protein isoform 1", "refseq_ac": [ { "id": "NP_001159611", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159611", "type": "external" } ], "gene_names_uniprotkb": "LCORL", "gene_names_refseq": "LCORL; MLR1", "protein_names_uniprotkb": "Ligand-dependent nuclear receptor corepressor-like protein; LCoR-like protein", "protein_names_refseq": "LCOR-like protein; MBLK1-related protein; ligand-dependent nuclear receptor corepressor-like protein isoform 1; transcription factor MLR1", "tax_id": 9606, "disease": "", "pathway": " (hsa:254251)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;12560079;19139490;19266077;24715725;26992070;28218747;28228285;28514659;28904123;29437277;29671580;31844290;32387766;32983136;33912179;33968037;33981976;34433824;36241641", "class_list": "", "function": "Identification and characterization of an homologous gene in mouse., [RefSeq, PubMed]; May act as transcription activator that binds DNA elements with the sequence 5'-CCCTATCGATCGATCTCTACCT-3'. May play a role in spermatogenesis (By similarity)., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96NK1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:1990226 histone methyltransferase binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8N3X6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52630-3", "uniprot_id": [ { "id": "STAT2_HUMAN", "url": "https://www.uniprot.org/uniprot/P52630", "type": "external" } ], "mass": 97916.0, "length": 851, "protein_name": "Signal transducer and activator of transcription 2", "gene_name": "STAT2", "organism": "Human", "refseq_name": "signal transducer and activator of transcription 2 isoform 1", "refseq_ac": [ { "id": "NP_005410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005410", "type": "external" } ], "gene_names_uniprotkb": "STAT2", "gene_names_refseq": "IMD44; ISGF-3; P113; PTORCH3; STAT113; STAT2", "protein_names_uniprotkb": "Signal transducer and activator of transcription 2; p113", "protein_names_refseq": "interferon alpha induced transcriptional activator; signal transducer and activator of transcription 2 isoform 1; signal transducer and activator of transcription 2, 113kDa", "tax_id": 9606, "disease": "Zika fever (Disease Ontology:DOID:0060478); immunodeficiency 44 (Disease Ontology:DOID:0111975); neutropenia (Disease Ontology:DOID:1227); hepatitis C (Disease Ontology:DOID:1883); pseudo-TORCH syndrome 3 (MONDO:MONDO:0030044)", "pathway": " (hsa:6773); (R-HSA-8854691); (R-HSA-909733); (R-HSA-912694); (R-HSA-9679191); (R-HSA-9705671); (R-HSA-9833109); (R-HSA-9920588)", "pathway_count": 8, "publication_count": 329, "publication_id_list": "10022928;10087012;10395669;10542297;10702714;10875937;10982844;11092454;11150296;11163236;11196675;11337497;11377645;11390453;11390454;11404376;11481447;11564763;11585831;11694501;11706020;12019269;12029096;12087100;12351624;12469119;12509459;12692549;12759408;12766484;12842042;14580208;14764663;14769151;1502204;15047845;15120653;15166220;15178681;15208624;15312780;15449939;15778442;15919823;16009940;16115318;16125763;16127453;16171819;16227264;16324217;1638633;16522641;1662392;16710296;16750817;16982608;16987978;17251292;1730654;17351669;17392790;17662961;17878297;17969444;18035202;18496526;18508557;18575461;18579593;18599299;18669613;18701593;18830264;18941194;18991276;19007958;19193793;19279106;19457860;19535621;19754307;19812155;20068231;20130243;20223979;20363976;20462497;20643137;20671117;20966397;21098725;21209280;21566123;21632562;21931555;2211721;22306001;22383950;22401777;22424782;22552008;22704065;22802649;22814904;22941947;22962576;23061660;23121362;23139419;23186163;23391734;23481700;23641311;24173023;24272870;24275569;24366607;24417533;24584101;25004819;25371710;25418920;25564224;25576301;25631085;25645385;25801024;25880248;25892735;26002965;26122121;26342467;26375851;26811146;26992070;27133025;27212660;27397612;27600516;27782195;27797853;27802159;27832191;27846572;27920218;28063628;28165510;28218747;28228285;28425720;28458652;28467828;28514659;28649982;28764923;28832583;28834231;28904123;29242379;29314611;29317535;29331515;29351928;29393594;29437277;29493099;29557506;29581268;29632046;29769354;29786170;29886262;29945920;30201761;30315122;30410026;30429286;30485383;30524438;30550790;30558248;30573663;30779550;31040183;31048504;31154438;31217245;31530632;31836668;31844290;31848261;31850239;31867016;32032529;32092142;32113509;32152943;32157095;32196427;32350084;32353859;32357974;32387766;32428392;32432721;32488085;32511913;32574262;32589897;32661006;32696599;32699158;32726803;32728199;32758689;32778820;32862111;32897882;32938616;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33117408;33123756;33189161;33193462;33298915;33349665;33360543;33372174;33372854;33396578;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33981976;33989516;33990585;34021074;34054808;34084167;34087483;34110168;34166398;34171305;34185709;34239064;34290717;34319780;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34597346;34932366;35051231;35102342;35251023;35318648;35561310;35580925;35643212;36010968;36148221;36241641;36284347;37051252;37526179;37938771;38139463;38514903;38665916;38879005;39302247;40348242;6162102;6548414;688397;7510216;7512451;7526154;7532278;7537377;7540766;7543512;7885841;8197134;8232552;8601453;8605876;8605877;8621447;8702790;8830676;8943354;9020188;9096384;9121453;9242679;9334213;9660177;9847332;9861020", "class_list": "", "function": "African swine fever virus pB475L evades host antiviral innate immunity via targeting STAT2 to inhibit IFN-I signaling., [RefSeq, PubMed]; ISGF3 and STAT2/IRF9 Control Basal and IFN-Induced Transcription through Genome-Wide Binding of Phosphorylated and Unphosphorylated Complexes to Common ISRE-Containing ISGs. Publication Status: Online-Only, [RefSeq, PubMed]; Investigation of the impact of AXL, TLR3, and STAT2 in congenital Zika syndrome through genetic polymorphisms and protein-protein interaction network analyses., [RefSeq, PubMed]; Signal transducer and activator of transcription that mediates signaling by type I interferons (IFN-alpha and IFN-beta). Following type I IFN binding to cell surface receptors, Jak kinases (TYK2 and JAK1) are activated, leading to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerize, associate with IRF9/ISGF3G to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of interferon stimulated genes, which drive the cell in an antiviral state (PubMed:23391734, PubMed:9020188). In addition, also has a negative feedback regulatory role in the type I interferon signaling by recruiting USP18 to the type I IFN receptor subunit IFNAR2 thereby mitigating the response to type I IFNs (PubMed:28165510). Acts as a regulator of mitochondrial fission by modulating the phosphorylation of DNM1L at 'Ser-616' and 'Ser-637' which activate and inactivate the GTPase activity of DNM1L respectively (PubMed:23391734, PubMed:26122121, PubMed:9020188)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The lack of either IRF9, or STAT2, has surprisingly little effect on human natural killer cell development and function., [RefSeq, PubMed]; The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DLC7;G3V2M6;Q16430;Q16431;Q9UDL4", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0044389 ubiquitin-like protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0090140 regulation of mitochondrial fission;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006952 defense response;GO:0042127 regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 33.3, "record_id": "P52630-3", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13751-1", "uniprot_id": [ { "id": "LAMB3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13751", "type": "external" } ], "mass": 129572.0, "length": 1172, "protein_name": "Laminin subunit beta-3", "gene_name": "LAMB3", "organism": "Human", "refseq_name": "laminin subunit beta-3 precursor", "refseq_ac": [ { "id": "NP_000219", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000219", "type": "external" } ], "gene_names_uniprotkb": "LAMB3; LAMNB1", "gene_names_refseq": "AI1A; BM600-125KDA; JEB1A; JEB1B; LAM5; LAMB3; LAMNB1", "protein_names_uniprotkb": "Laminin subunit beta-3; Epiligrin subunit beta; Kalinin B1 chain; Kalinin subunit beta; Laminin B1k chain; Laminin-5 subunit beta; Nicein subunit beta", "protein_names_refseq": "epiligrin subunit bata; epiligrin subunit beta; kalinin B1 chain; kalinin subunit beta; kalinin-140kDa; laminin B1k chain; laminin S B3 chain; laminin beta 3; laminin subunit beta-3 precursor; laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)); laminin-5 subunit beta; nicein subunit beta; nicein-125kDa", "tax_id": 9606, "disease": "junctional epidermolysis bullosa Herlitz type (Disease Ontology:DOID:0060737); junctional epidermolysis bullosa non-Herlitz type (Disease Ontology:DOID:0060738); amelogenesis imperfecta type 1A (Disease Ontology:DOID:0110054); junctional epidermolysis bullosa (Disease Ontology:DOID:3209); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung small cell carcinoma (Disease Ontology:DOID:5409)", "pathway": " (hsa:3914); (R-HSA-1474228); (R-HSA-2022090); (R-HSA-2214320); (R-HSA-3000157); (R-HSA-3000171); (R-HSA-446107); (R-HSA-8874081); (R-HSA-9638630); (R-HSA-9913351); (R-HSA-9925563)", "pathway_count": 11, "publication_count": 196, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10022829;10189375;10229672;10386589;10441321;10521801;10545507;10596943;10637308;10706100;10809722;10811835;10893187;10932245;10942431;10966814;10986281;11054877;11237011;11296269;11352924;11375993;11430802;11495720;11739641;11847221;11872628;11964076;11986329;12189167;12237301;12482924;12727852;12802069;12843408;1319059;1400327;14602708;14973287;15175026;15234972;15265795;15591058;15837520;15958533;16133547;16272566;16413178;1649600;16524571;16563355;16581764;16631740;16782899;16806867;16825321;16959974;1698775;1707285;17332331;17354228;17476356;17574028;17608959;17905726;18434311;18599485;18658137;18764929;19010778;19242489;19275936;19346169;19571574;19657146;19693541;19714641;19946898;20044576;20068231;20142769;20802513;21030783;21297635;21441952;21526146;21670566;21784848;21864727;22159078;22159414;22223806;22493504;23035980;2307289;23090970;23481700;23584533;23632796;23845380;23958762;24190977;24480479;24715725;25505266;25576301;25892735;26768311;26992070;27397612;27600516;27862975;28228285;29093164;29242379;29331515;29393594;29557506;29769354;29786170;29789417;30315122;30429286;3082888;31217245;31844290;32157095;32488085;3282674;32938616;32983136;33298915;33592498;33912179;33968037;33981976;34087483;34171305;34185709;35051231;35289036;35318648;35580925;36241641;36284347;37074911;37454278;37801199;38297082;38375821;38473784;3997977;7075587;7509446;7512558;7527495;7547873;7547961;7550237;7592992;7774918;7844150;7925941;8043271;8054685;8207089;8226919;8268918;8349731;8530036;8576247;8607994;8626565;8627307;8798547;8845841;9008168;9065415;9115292;9148753;9214383;9245798;9405466;9412493;9417118;9461298;9645947;9652404;9659899;9659900;9767254;9852107;9856810;9864373", "class_list": "", "function": "Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components., [UniProtKB]; Downregulation of LAMB3 Altered the Carcinogenic Properties of Human Papillomavirus 16-Positive Cervical Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; LAMB3 Promotes Intestinal Inflammation Through SERPINA3 and Is Directly Transcriptionally Regulated by P65 in Inflammatory Bowel Disease., [RefSeq, PubMed]; LAMB3 Promotes Myofibrogenesis and Cytoskeletal Reorganization in Endometrial Stromal Cells via the RhoA/ROCK1/MYL9 Pathway., [RefSeq, PubMed]; MDFI promotes the proliferation and tolerance to chemotherapy of colorectal cancer cells by binding ITGB4/LAMB3 to activate the AKT signaling pathway., [RefSeq, PubMed]; PARP1-stabilised FOXQ1 promotes ovarian cancer progression by activating the LAMB3/WNT/beta-catenin signalling pathway., [RefSeq, PubMed]; The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 54, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 6, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "D3DT88;O14947;Q14733;Q9UJK4;Q9UJL1", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0005604 basement membrane;GO:0005610 laminin-5 complex", "go_biological_process": "GO:0008544 epidermis development;GO:0034446 substrate adhesion-dependent cell spreading;GO:0035987 endodermal cell differentiation", "synthesized_glycan_count": 0, "hit_score": 20.8, "record_id": "Q13751-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43432-1", "uniprot_id": [ { "id": "IF4G3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43432", "type": "external" } ], "mass": 176652.0, "length": 1585, "protein_name": "Eukaryotic translation initiation factor 4 gamma 3", "gene_name": "EIF4G3", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 4 gamma 3 isoform 1", "refseq_ac": [ { "id": "NP_001185730", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185730", "type": "external" } ], "gene_names_uniprotkb": "EIF4G3", "gene_names_refseq": "EIF4G3; eIF-4G 3; eIF4G 3; eIF4GII", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 4 gamma 3; eIF-4-gamma 3; eIF-4-gamma II; eIF-4G 3; eIF4G 3; eIF4GII", "protein_names_refseq": "eIF-4-gamma 3; eIF-4-gamma II; eukaryotic translation initiation factor 4 gamma 3 isoform 1", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:8672); (R-HSA-1169408); (R-HSA-9918487)", "pathway_count": 3, "publication_count": 181, "publication_id_list": "10.1101/2023.09.13.557529;10872469;11095724;11112487;11157743;11172724;11237011;11788588;12525615;12582176;12663812;12975586;14507913;15016848;15131269;15485925;15702989;16009940;16112642;16122702;16139798;16352599;16407192;16428300;16699525;16715065;16775314;16815975;16872604;16914094;16964243;17081983;17289916;17322306;17376915;17693683;18088087;18212344;18287095;18305167;18452278;18583345;18669648;18707149;18767875;18991276;19073728;19125153;19270716;19413330;19651622;19664994;19664995;19690332;20068231;20133869;20166139;20219937;20308324;20385878;21406692;22514323;22661428;22898188;23186163;23301498;23481700;24275569;24715725;25418920;25576301;25645385;25880248;26154972;26375851;26735137;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28657654;28832583;28834231;28904123;29117567;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30379171;30410026;30429286;30524438;30620550;30779550;30833945;31154438;31217245;31222486;31492838;31530632;31637018;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32870666;32890404;32897882;32938616;32983136;33091337;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34561969;34696522;34846842;34932366;35051231;35138101;35251023;35254053;35289036;35318648;35580925;35585045;35705054;36010968;36241641;36284347;37340703;37541260;37938771;38177122;38253038;38665916;38838015;39302247;39531497;39534244;39894887;40307207;40914422;7559393;9418880;9525617;9857202", "class_list": "", "function": "Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome (PubMed:9418880). Functional homolog of EIF4G1 (PubMed:9418880)., [UniProtKB, PubMed]; The protein encoded by this gene is thought to be part of the eIF4F protein complex, which is involved in mRNA cap recognition and transport of mRNAs to the ribosome. Interestingly, a microRNA (miR-520c-3p) has been found that negatively regulates synthesis of the encoded protein, and this leads to a global decrease in protein translation and cell proliferation. Therefore, this protein is a key component of the anti-tumor activity of miR-520c-3p. [provided by RefSeq, May 2016]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 0, "predicted_o_glycosites": 6, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 16, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 16, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 16, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 23, "binding_glycan_count": 0, "secondary_ac_list": "B9EGQ7;Q15597;Q504Z1;Q5SWC3;Q8NEN1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008135 translation factor activity, RNA binding;GO:0003743 translation initiation factor activity;GO:0000339 RNA cap binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016281 eukaryotic translation initiation factor 4F complex", "go_biological_process": "GO:0007286 spermatid development;GO:0006413 translational initiation;GO:0045727 positive regulation of translation;GO:0006446 regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 20.2, "record_id": "O43432-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6GTX8-1", "uniprot_id": [ { "id": "LAIR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6GTX8", "type": "external" } ], "mass": 31469.0, "length": 287, "protein_name": "Leukocyte-associated immunoglobulin-like receptor 1", "gene_name": "LAIR1", "organism": "Human", "refseq_name": "leukocyte-associated immunoglobulin-like receptor 1 isoform e precursor", "refseq_ac": [ { "id": "NP_001275954", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275954", "type": "external" } ], "gene_names_uniprotkb": "LAIR1; CD305", "gene_names_refseq": "CD305; LAIR-1; LAIR1", "protein_names_uniprotkb": "Leukocyte-associated immunoglobulin-like receptor 1; LAIR-1; hLAIR1", "protein_names_refseq": "immunoglobulin heavy chain variable region; leukocyte-associated Ig-like receptor 1; leukocyte-associated immunoglobulin-like receptor 1 isoform e precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:3903); (R-HSA-198933); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 109, "publication_id_list": "10229813;10499918;10540327;10746781;10764762;11069054;11160222;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12072189;12213321;12483297;12588680;12757266;14565933;14604962;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;15939744;15950745;16014749;16091383;16129954;16339513;16380601;16380958;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19349973;19359216;19592130;20007810;20730098;21241660;21800138;21841309;21877119;22396535;23650620;23695528;23929856;24190977;24305946;25703557;25716998;26284469;26300885;27452731;28834231;29242379;30237853;30429286;30459171;31848261;36293412;37074911;37634572;37845206;38512030;39216164;7531291;7542404;8178173;8692836;8995416;9285412;9314561;9692876;9700512;9730896", "class_list": "", "function": "Cytotoxic T Cell Expression of Leukocyte-Associated Immunoglobulin-Like Receptor-1 (LAIR-1) in Viral Hepatitis C-Mediated Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as an inhibitory receptor that plays a constitutive negative regulatory role on cytolytic function of natural killer (NK) cells, B-cells and T-cells. Activation by Tyr phosphorylation results in recruitment and activation of the phosphatases PTPN6 and PTPN11. It also reduces the increase of intracellular calcium evoked by B-cell receptor ligation. May also play its inhibitory role independently of SH2-containing phosphatases. Modulates cytokine production in CD4+ T-cells, down-regulating IL2 and IFNG production while inducing secretion of transforming growth factor beta. Also down-regulates IgG and IgE production in B-cells as well as IL8, IL10 and TNF secretion. Inhibits proliferation and induces apoptosis in myeloid leukemia cell lines as well as prevents nuclear translocation of NF-kappa-B p65 subunit/RELA and phosphorylation of I-kappa-B alpha/CHUK in these cells. Inhibits the differentiation of peripheral blood precursors towards dendritic cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; LAIR-1 limits macrophage activation in acute inflammatory lung injury., [RefSeq, PubMed]; LAIR1 drives glioma progression by nuclear focal adhesion kinase dependent expressions of cyclin D1 and immunosuppressive chemokines/cytokines. Publication Status: Online-Only, [RefSeq, PubMed]; Leukocyte-associated immunoglobulin-like receptor 1 (LAIR1) is reduced with preeclampsia and small for gestational aged fetuses., [RefSeq, PubMed]; The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]; [leukocyte-associated immunoglobulin-like receptor 1 (LAIR-1) inhibits proliferation and promotes apoptosis of human HEL cells with JAK2 V617F mutation by blocking the JAK/STAT and PI3K/AKT signaling pathways]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 8621, "biomarker_type": "", "glycan_count": 21, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0070821 tertiary granule membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q6GTX8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6JVE6-1", "uniprot_id": [ { "id": "LCN10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6JVE6", "type": "external" } ], "mass": 20759.0, "length": 187, "protein_name": "Epididymal-specific lipocalin-10", "gene_name": "LCN10", "organism": "Human", "refseq_name": "epididymal-specific lipocalin-10 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001001712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001712", "type": "external" } ], "gene_names_uniprotkb": "LCN10", "gene_names_refseq": "LCN10", "protein_names_uniprotkb": "Epididymal-specific lipocalin-10", "protein_names_refseq": "epididymal-specific lipocalin-10 isoform 1 precursor; epididymal-specific lipocalin-10", "tax_id": 9606, "disease": "", "pathway": " (hsa:414332)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;15363845;34121925;35757735;37392461", "class_list": "", "function": "Lipocalin 10 as a New Prognostic Biomarker in Sepsis-Induced Myocardial Dysfunction and Mortality: A Pilot Study. Publication Status: Online-Only, [RefSeq, PubMed]; Lipocalin 10 is essential for protection against inflammation-triggered vascular leakage by activating LDL receptor-related protein 2-slingshot homologue 1 signalling pathway., [RefSeq, PubMed]; Loss of Lipocalin 10 Exacerbates Diabetes-Induced Cardiomyopathy via Disruption of Nr4a1-Mediated Anti-Inflammatory Response in Macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in male fertility. May act as a retinoid carrier protein within the epididymis., [UniProtKB]; Members of the lipocalin family, such as LCN10, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2RUU3;B0QZ79", "ec_number_list": [], "go_molecular_function": "GO:0036094 small molecule binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6JVE6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHI5-1", "uniprot_id": [ { "id": "LAT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHI5", "type": "external" } ], "mass": 58382.0, "length": 535, "protein_name": "Large neutral amino acids transporter small subunit 2", "gene_name": "SLC7A8", "organism": "Human", "refseq_name": "large neutral amino acids transporter small subunit 2 isoform c", "refseq_ac": [ { "id": "NP_001253965", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001253965", "type": "external" } ], "gene_names_uniprotkb": "SLC7A8; LAT2", "gene_names_refseq": "LAT2; LPI-PC1; SLC7A8", "protein_names_uniprotkb": "Large neutral amino acids transporter small subunit 2; L-type amino acid transporter 2; Solute carrier family 7 member 8; hLAT2", "protein_names_refseq": "L-type amino acid transporter 2; integral membrane protein E16H; large neutral amino acids transporter small subunit 2 isoform c; large neutral amino acids transporter small subunit 2; solute carrier family 7 (amino acid transporter light chain, L system), member 8; solute carrier family 7 (amino acid transporter, L-type), member 8; solute carrier family 7 (cationic amino acid transporter, y+ system), member 8", "tax_id": 9606, "disease": "sensorineural hearing loss (Disease Ontology:DOID:10003)", "pathway": " (hsa:23428); (R-HSA-210991); (R-HSA-352230)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "10080183;10358010;10391915;10485994;10574970;10698697;10823827;10863037;10880960;10891391;10903140;10921872;10930503;11237011;11243884;11278508;11311135;11318953;11342143;11417227;11591158;11719518;11827462;11847106;11943775;12117417;12202949;12527723;12558975;12716892;12809675;12930836;14707126;15081149;15151999;15659399;15769744;15901826;15918515;15946952;16027961;16260747;17996943;18195088;21097500;24652292;25645385;26305885;29355479;29557506;31844290;32157095;32938616;32983136;33043033;33298890;33968037;34494553;34848541;35051231;35580925;36626488;38244585;38661522;38890684;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9360995;9878049", "class_list": "", "function": "Associates with SLC3A2 to form a functional heterodimeric complex that translocates small and large neutral amino acids with broad specificity and a stoichiometry of 1:1. Functions as amino acid antiporter mediating the influx of extracellular essential amino acids mainly in exchange with the efflux of highly concentrated intracellular amino acids (PubMed:10391915, PubMed:11311135, PubMed:11847106, PubMed:12716892, PubMed:15081149, PubMed:15918515, PubMed:29355479, PubMed:33298890, PubMed:34848541). Has relatively symmetrical selectivities but strongly asymmetrical substrate affinities at both the intracellular and extracellular sides of the transporter (PubMed:11847106). This asymmetry allows SLC7A8 to regulate intracellular amino acid pools (mM concentrations) by exchange with external amino acids (uM concentration range), equilibrating the relative concentrations of different amino acids across the plasma membrane instead of mediating their net uptake (PubMed:10391915, PubMed:11847106). May play an essential role in the reabsorption of neutral amino acids from the epithelial cells to the bloodstream in the kidney (PubMed:12716892). Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity (PubMed:12117417). Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane (PubMed:15769744). Imports the thyroid hormone diiodothyronine (T2) and to a smaller extent triiodothyronine (T3) but not rT 3 or thyroxine (T4) (PubMed:26305885). Mediates the uptake of L-DOPA (By similarity). May participate in auditory function (By similarity). Mediates the uptake of leucine and 3-iodo-L-tyrosine (MIT) (PubMed:26305885). Mediates the uptake of 3,5-diiodo-L-tyrosine (DIT) (PubMed:38661522)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Evidence for a relationship between genetic polymorphisms of the L-DOPA transporter LAT2/4F2hc and risk of hypertension in the context of chronic kidney disease. Publication Status: Online-Only, [RefSeq, PubMed]; Genomic and epigenomic evolution of acquired resistance to combination therapy in esophageal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and verification of microRNA signature and key genes in the development of osteosarcoma with lung metastasis., [RefSeq, PubMed]; SLC7A8 overexpression inhibits the growth and metastasis of lung adenocarcinoma and is correlated with a dismal prognosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8Q4;B4DKT4;B4DTV6;D3DS46;F2Z2J4;Q86U05;Q9UKQ6;Q9UKQ7;Q9UKQ8;Q9Y445", "ec_number_list": [], "go_molecular_function": "GO:0015180 L-alanine transmembrane transporter activity;GO:0015187 glycine transmembrane transporter activity;GO:0015179 L-amino acid transmembrane transporter activity;GO:0022857 transmembrane transporter activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0009925 basal plasma membrane;GO:0031528 microvillus membrane", "go_biological_process": "GO:0015816 glycine transport;GO:0015820 L-leucine transport;GO:0035524 proline transmembrane transport;GO:1903801 L-leucine import across plasma membrane;GO:0006865 amino acid transport", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9UHI5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D1F6-1", "uniprot_id": [ { "id": "LRRD1_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D1F6", "type": "external" } ], "mass": 98035.0, "length": 860, "protein_name": "Leucine-rich repeat and death domain-containing protein 1", "gene_name": "LRRD1", "organism": "Human", "refseq_name": "leucine-rich repeat and death domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001155000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155000", "type": "external" } ], "gene_names_uniprotkb": "LRRD1", "gene_names_refseq": "LRRD1", "protein_names_uniprotkb": "Leucine-rich repeat and death domain-containing protein 1", "protein_names_refseq": "leucine-rich repeat and death domain-containing protein 1 isoform 1; leucine-rich repeat and death domain-containing protein 1; leucine-rich repeat and death domain-containing protein LOC401387", "tax_id": 9606, "disease": "", "pathway": " (hsa:401387)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;28228285;28904123;29557506;29789417;30192525;31844290;34087483;35051231;37217939", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZMM9;Q49AT9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "A4D1F6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62256-1", "uniprot_id": [ { "id": "UBE2H_HUMAN", "url": "https://www.uniprot.org/uniprot/P62256", "type": "external" } ], "mass": 20655.0, "length": 183, "protein_name": "Ubiquitin-conjugating enzyme E2 H", "gene_name": "UBE2H", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 H isoform 3", "refseq_ac": [ { "id": "NP_001189427", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189427", "type": "external" } ], "gene_names_uniprotkb": "UBE2H", "gene_names_refseq": "E2-20K; GID3; UBC8; UBCH2; UBCH; UBE2H", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 H; (E3-independent) E2 ubiquitin-conjugating enzyme H; 2.3.2.23; 2.3.2.24; E2 ubiquitin-conjugating enzyme H; UbcH2; Ubiquitin carrier protein H; Ubiquitin-conjugating enzyme E2-20K; Ubiquitin-protein ligase H", "protein_names_refseq": "(E3-independent) E2 ubiquitin-conjugating enzyme H; E2 ubiquitin-conjugating enzyme H; GID complex subunit 3, UBC8 homolog; ubiquitin carrier protein H; ubiquitin conjugating enzyme E2H; ubiquitin-conjugating enzyme E2 H isoform 3; ubiquitin-conjugating enzyme E2-20K; ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast); ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8); ubiquitin-protein ligase H", "tax_id": 9606, "disease": "viral infectious disease (Disease Ontology:DOID:934)", "pathway": " (hsa:7328); (R-HSA-8866652); (R-HSA-983168)", "pathway_count": 3, "publication_count": 94, "publication_id_list": "11062501;11237011;11350924;12646216;14639049;14734113;15224091;15224092;15571818;16142244;16595681;16849449;16954532;17580310;17588522;17597759;18353650;18662542;18991276;19028597;19352404;19413330;19452197;19489725;19851334;19874575;19940261;20061386;20112406;22496338;2261476;24366607;25576301;25892735;26154972;26235645;26768311;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29769354;29786170;29789417;29911972;30315122;30410026;30484775;30833945;31154438;31530632;31844290;32157095;32161166;32357974;32387766;32403399;32938616;32983136;33298915;33537174;33592498;33717175;33936100;33968037;33981976;34087483;34405274;34509645;35051231;35561310;35580925;36010968;36241641;36284347;6277905;6305978;7851534;8010951;8132613;9380723;9521656;9668046", "class_list": "", "function": "Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:17588522, PubMed:20061386, PubMed:8132613). E2 ubiquitin conjugating enzyme that transfers ubiquitin to MAEA, a core component of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination (PubMed:20061386). Capable, in vitro, to ubiquitinate histone H2A (PubMed:8132613)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. E2 ubiquitin conjugating enzyme that transfers ubiquitin to MAEA, a core component of the CTLH E3 ubiquitin-protein ligase complex. In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination. Capable, in vitro, to ubiquitinate histone H2A., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Predictive Potential of Circulating Ube2h mRNA as an E2 Ubiquitin-Conjugating Enzyme for Diagnosis or Treatment of Alzheimer's Disease. Publication Status: Online-Only, [RefSeq, PubMed]; The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Three alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq, Feb 2011]., [RefSeq]; UBE2H gene could be one of the 7q-susceptibility loci for autistic disorder., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D1L6;C9JY93;P37286;Q7Z6F4", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "6.2.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.64", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004842 ubiquitin-protein transferase activity;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0070979 protein K11-linked ubiquitination;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0070936 protein K48-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P62256-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZN1-1", "uniprot_id": [ { "id": "IRPL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZN1", "type": "external" } ], "mass": 79969.0, "length": 696, "protein_name": "Interleukin-1 receptor accessory protein-like 1", "gene_name": "IL1RAPL1", "organism": "Human", "refseq_name": "interleukin-1 receptor accessory protein-like 1 precursor", "refseq_ac": [ { "id": "NP_055086", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055086", "type": "external" } ], "gene_names_uniprotkb": "IL1RAPL1; OPHN4", "gene_names_refseq": "IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL-1; IL1RAPL1; IL1RAPL; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2", "protein_names_uniprotkb": "Interleukin-1 receptor accessory protein-like 1; 3.2.2.6; IL-1-RAPL-1; IL-1RAPL-1; IL1RAPL-1; Oligophrenin-4; TIGIRR-2; Three immunoglobulin domain-containing IL-1 receptor-related 2; X-linked interleukin-1 receptor accessory protein-like 1", "protein_names_refseq": "X-linked interleukin-1 receptor accessory protein-like 1; interleukin 1 receptor-8; interleukin-1 receptor accessory protein-like 1 precursor; oligophrenin-4; three immunoglobulin domain-containing IL-1 receptor-related 2", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability 21 (Disease Ontology:DOID:0112022); intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:11141); (R-HSA-388844); (R-HSA-9007892)", "pathway_count": 3, "publication_count": 34, "publication_id_list": "10471494;10757639;10882729;12777533;12783849;15123616;15750591;16470793;18801879;19252495;20139422;20714405;21262467;21940441;22286174;22315422;22357843;23345436;25385546;25645385;25908590;26892022;29393594;29557506;30548231;31844290;32157095;32488085;32938616;33968037;36318984;37907630;7796809;9624153", "class_list": "", "function": "IL-1R8 expression in DLBCL regulates NK cell recruitment and influences patient prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel (PubMed:12783849). May activate the MAP kinase JNK (PubMed:15123616). Plays a role in neurite outgrowth (By similarity). During dendritic spine formation can bidirectionally induce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed]; RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias. Publication Status: Online-Only, [RefSeq, PubMed]; The mutations and deletion of IL1RAPL1 gene are related to different phenotypes (even in the same family and in patients with the same mutation) including different severity of Intellectual Disability. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. This protein has an N-terminal signal peptide, three extracellular immunoglobulin Ig-like domains, a transmembrane domain, an intracellular Toll/IL-1R domain, and a long C-terminal tail which interacts with multiple signalling molecules. This gene is located at a region on chromosome X that is associated with a non-syndromic form of X-linked intellectual disability. Deletions and mutations in this gene were found in patients with intellectual disability. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities, and plays a role in synapse formation and stabilization. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0AVG4;Q9UJ53", "ec_number_list": [ { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.4.99.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.20", "type": "external" }, { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" } ], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0061809 NAD+ nucleosidase activity, cyclic ADP-ribose generating", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030424 axon", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0030182 neuron differentiation;GO:0051965 positive regulation of synapse assembly;GO:0010975 regulation of neuron projection development;GO:0045920 negative regulation of exocytosis", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9NZN1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14244-1", "uniprot_id": [ { "id": "MAP7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14244", "type": "external" } ], "mass": 84052.0, "length": 749, "protein_name": "Ensconsin", "gene_name": "MAP7", "organism": "Human", "refseq_name": "ensconsin isoform 2", "refseq_ac": [ { "id": "NP_001185538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185538", "type": "external" } ], "gene_names_uniprotkb": "MAP7", "gene_names_refseq": "E-MAP-115; EMAP115; MAP7", "protein_names_uniprotkb": "Ensconsin; E-MAP-115; Epithelial microtubule-associated protein of 115 kDa; MAP-7; Microtubule-associated protein 7", "protein_names_refseq": "dJ325F22.2 (microtubule-associated protein 7 (EMAP115, E-MAP-115)); ensconsin isoform 2; ensconsin; epithelial microtubule-associated protein of 115 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:9053)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11719555;16565220;16964243;17924679;18212344;18220336;18669648;18691976;18767875;19007248;19413330;19651622;19664994;19664995;19691289;20068230;20068231;21406692;23186163;24275569;24715725;25114211;25218447;25418920;25576301;25772364;26992070;28834231;29242379;29393594;29557506;29786170;29789417;30484775;30779550;31154438;31373491;31844290;31848261;32157095;32161166;32387766;33449227;33981976;34087483;35050657;35051231;35154160;35318648;35580925;35633546;36215666;36241641;36261182;36284347;38431715;40596516;7490279;8408219;9989799", "class_list": "", "function": "A structural and dynamic visualization of the interaction between MAP7 and microtubules. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical Significance of MAP-7 and FOXC1 in Egyptian Acute Myeloid Leukemia Patients. Publication Status: Online-Only, [RefSeq, PubMed]; MAP7 Promotes Breast Cancer Cell Migration and Invasion by Regulating the NF-B Pathway., [RefSeq, PubMed]; Microtubule-stabilizing protein that may play an important role during reorganization of microtubules during polarization and differentiation of epithelial cells. Associates with microtubules in a dynamic manner. May play a role in the formation of intercellular contacts. Colocalization with TRPV4 results in the redistribution of TRPV4 toward the membrane and may link cytoskeletal microfilaments., [UniProtKB, PubMed, PubMed, PubMed]; Plasma Exosomal CircNEK9 Accelerates the Progression of Gastric Cancer via miR-409-3p/MAP7 Axis., [RefSeq, PubMed]; Structural and functional insight into regulation of kinesin-1 by microtubule-associated protein MAP7., [RefSeq, PubMed]; The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 29, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B7Z290;B7Z400;B7Z5S7;B7Z9U7;C9JPS0;E9PCP3;F5H1E2;Q7Z6S0;Q8TAU5;Q9NY82;Q9NY83", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005874 microtubule;GO:0016323 basolateral plasma membrane;GO:0030424 axon;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006970 response to osmotic stress;GO:0072659 protein localization to plasma membrane;GO:0000226 microtubule cytoskeleton organization;GO:0007163 establishment or maintenance of cell polarity", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q14244-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16787-2", "uniprot_id": [ { "id": "LAMA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16787", "type": "external" } ], "mass": 366619.0, "length": 3333, "protein_name": "Laminin subunit alpha-3", "gene_name": "LAMA3", "organism": "Human", "refseq_name": "laminin subunit alpha-3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_000218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000218", "type": "external" } ], "gene_names_uniprotkb": "LAMA3; LAMNA", "gene_names_refseq": "BM600; E170; JEB2A; JEB2B; JEB2C; LAMA3; LAMNA; LOCS", "protein_names_uniprotkb": "Laminin subunit alpha-3; E170; Epiligrin 170 kDa subunit; Epiligrin subunit alpha; Kalinin subunit alpha; Laminin-5 subunit alpha; Laminin-6 subunit alpha; Laminin-7 subunit alpha; Nicein subunit alpha", "protein_names_refseq": "BM600 150kD subunit; LAM3, alpha-3 subunit; epiligrin 170 kda subunit; epiligrin alpha 3 subunit; kalinin 165kD subunit; kalinin subunit alpha; laminin 5, alpha-3 subunit; laminin A3; laminin subunit alpha-3 isoform 2 precursor; laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin); laminin-5 alpha 3 chain; laminin-5 subunit alpha; laminin-6 subunit alpha; laminin-7 subunit alpha; nicein 150kD subunit; nicein subunit alpha", "tax_id": 9606, "disease": "junctional epidermolysis bullosa non-Herlitz type (Disease Ontology:DOID:0060738); junctional epidermolysis bullosa (Disease Ontology:DOID:3209); lung small cell carcinoma (Disease Ontology:DOID:5409); laryngo-onycho-cutaneous syndrome (MONDO:MONDO:0009513); epidermolysis bullosa, junctional 2A, intermediate (MONDO:MONDO:0030746); epidermolysis bullosa, junctional 2B, severe (MONDO:MONDO:0030747)", "pathway": " (hsa:3909); (R-HSA-1474228); (R-HSA-2022090); (R-HSA-2214320); (R-HSA-3000157); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-446107); (R-HSA-8874081); (R-HSA-9638630); (R-HSA-9913351); (R-HSA-9925563)", "pathway_count": 12, "publication_count": 208, "publication_id_list": "37268159;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10022829;10189375;10229672;10339611;10386589;10441321;10521801;10545507;10596943;10637308;10673326;10706100;10809722;10811835;10893187;10932245;10942431;10966814;10986281;11054877;11084047;11259413;11352924;11373281;11375993;11430802;11495720;11739641;11810295;11847221;11872628;11964076;11986329;12189167;12225811;12237301;12482924;12727852;12802069;12843408;12915477;1319059;1376317;1400327;14602708;14715956;14973287;15044476;15075323;15175026;15234972;15265795;15296743;1544908;15591058;15837520;15958533;16133547;16272566;16293224;16413178;16493581;1649600;16524571;16563355;16581764;16631740;16782899;16806867;16825321;1698775;1707285;17332331;17354228;17574028;17588949;17608959;17905726;18434311;18599485;18658137;18764929;19010778;19242489;19346169;19571574;19657146;19693541;19714641;19773554;19946898;20044576;20112406;20142769;2059554;20802513;21030783;21297635;21441952;21642437;21670566;21784848;21789315;21864727;22134916;22159078;22159414;22223806;22493504;23035980;2307289;23584533;2364322;23845380;2412224;2420006;2430969;24480479;25813380;27726376;27862975;27920218;29093164;29242379;29786170;29789417;30192525;30459171;30524438;30779550;3082888;31154438;31530632;3282674;34185709;35289036;35494241;36240223;36284347;37074911;37938771;38951081;3997977;41350704;6193777;6439184;7075587;7499434;7509446;7527058;7527495;7542669;7547873;7547961;7559467;7592992;7633458;7685013;7693733;7844150;7852349;7925941;8002934;8043271;8054685;8077230;8207089;8226919;8268918;8349731;8440685;8530087;8576247;8586427;8607994;8626565;8627307;8798547;8798654;8845841;8943283;9008168;9065415;9115292;9148753;9214383;9245798;9252349;9294172;9341124;9346959;9405466;9412493;9417118;9461298;9645947;9652404;9659899;9659900;9685393;9852107;9856810;9864373;9949188", "class_list": "", "function": "Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components., [UniProtKB]; Characterization of laminin 5B and NH2-terminal proteolytic fragment of its alpha3B chain, [RefSeq, PubMed]; Immunofluorescence analyses revealed a basement membrane staining in epithelial tissue for LaNt alpha3 and LaNt alpha3 localized along the substratum-associated surface of cultured keratinocytes., [RefSeq, PubMed]; Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in focal adhesion and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine phosphorylation of pp125-FAK and p80, (3) differentiation of keratinocytes., [UniProtKB]; The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]; [Clinical and bioinformatics analysis of the relationship between LAMA3 DNA methylation expression and platinum resistance and prognosis in epithelial ovarian cancer]., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 1, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 10, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 115, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 6, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ33;Q13679;Q13680;Q6VU67;Q6VU68;Q6VU69;Q76E14;Q96TG0", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0031012 extracellular matrix;GO:0045202 synapse", "go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0030155 regulation of cell adhesion;GO:0008544 epidermis development;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 23.9, "record_id": "Q16787-2", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P27352-1", "uniprot_id": [ { "id": "IF_HUMAN", "url": "https://www.uniprot.org/uniprot/P27352", "type": "external" } ], "mass": 45416.0, "length": 417, "protein_name": "Cobalamin binding intrinsic factor", "gene_name": "CBLIF", "organism": "Human", "refseq_name": "cobalamin binding intrinsic factor precursor", "refseq_ac": [ { "id": "NP_005133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005133", "type": "external" } ], "gene_names_uniprotkb": "CBLIF; GIF; IFMH", "gene_names_refseq": "CBLIF; GIF; IFMH; IF; INF; TCN3", "protein_names_uniprotkb": "Cobalamin binding intrinsic factor; Gastric intrinsic factor; IF; INF; Intrinsic factor", "protein_names_refseq": "cobalamin binding intrinsic factor precursor; gastric intrinsic factor (vitamin B synthesis); intrinsic factor", "tax_id": 9606, "disease": "congenital intrinsic factor deficiency (Disease Ontology:DOID:0050734); gastric ulcer (Disease Ontology:DOID:10808); pernicious anemia (Disease Ontology:DOID:13381); gastritis (Disease Ontology:DOID:4029)", "pathway": " (hsa:2694); (R-HSA-3359457); (R-HSA-3359462); (R-HSA-3359463); (R-HSA-9758881)", "pathway_count": 5, "publication_count": 31, "publication_id_list": "10080186;10887099;11237011;12590260;13828999;13852753;14576052;14695536;15738392;17954916;17990953;19136951;20237569;2071148;22547309;22631584;22900303;22922874;22929189;23402911;25892735;26485402;27456980;28742214;29368379;29557506;30523278;30777892;31848261;33845046;4001945", "class_list": "", "function": "Pancytopenia and megaloblastic erythropoiesis reveal a novel GIF mutation., [RefSeq, PubMed]; Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the CBLIF-cobalamin complex is internalized via receptor-mediated endocytosis., [UniProtKB]; Study reports that FUT2 secretor variant influences GIF secretion in B12 deficient cases bearing GIF heterozygous mutations, in absence of H. pylori related gastritis, [RefSeq, PubMed]; The gastric intrinsic factor (GIF) 290C heterozygous/fucosyltransferase 2 (secretor status included) protein (FUT2) rs601338 secretor variant combined genotype was indicated in 6 of the 37 neural tube defects (NTDs) fetuses., [RefSeq, PubMed]; The present findings reveal that High-altitude polycythemia -induced gastric mucosal lesion inspires the protection responses by up-regulating APOA4 and APOC3, and down-regulating GIF. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RAN8;B4DVZ1", "ec_number_list": [], "go_molecular_function": "GO:0031419 cobalamin binding;GO:0140355 cargo receptor ligand activity;GO:0140104 molecular carrier activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005768 endosome;GO:0016324 apical plasma membrane;GO:0005902 microvillus", "go_biological_process": "GO:0015889 cobalamin transport;GO:0006824 cobalt ion transport", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "P27352-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75334-1", "uniprot_id": [ { "id": "LIPA2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75334", "type": "external" } ], "mass": 143291.0, "length": 1257, "protein_name": "Liprin-alpha-2", "gene_name": "PPFIA2", "organism": "Human", "refseq_name": "liprin-alpha-2 isoform c", "refseq_ac": [ { "id": "NP_001207403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001207403", "type": "external" } ], "gene_names_uniprotkb": "PPFIA2", "gene_names_refseq": "PPFIA2", "protein_names_uniprotkb": "Liprin-alpha-2; PTPRF-interacting protein alpha-2; Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-2", "protein_names_refseq": "PTPRF interacting protein alpha 2; liprin-alpha-2 isoform c; liprin-alpha-2; protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8499); (R-HSA-181429); (R-HSA-181430); (R-HSA-210500); (R-HSA-212676); (R-HSA-264642); (R-HSA-388844)", "pathway_count": 7, "publication_count": 65, "publication_id_list": "10440375;10620514;11001057;11015561;11027560;11068039;11237011;11242046;11756489;12119554;12519779;1339386;15750591;15935055;16116111;16616430;17301226;17478680;17766642;17891149;17989281;18215623;18617632;19252495;20139422;21262467;21855798;21940441;22286174;22357843;22706990;23345436;23363473;24578174;25385546;25645385;25908590;26740234;28832583;2892215;29237092;29242379;29557506;29786170;30021165;30315122;30379171;30429286;30879928;31844290;3214421;32938616;32983136;33968037;34932366;35051231;7796809;7823026;8071310;8095030;8211186;9260930;9624153;9701566;9753324", "class_list": "", "function": "Alters PTPRF cellular localization and induces PTPRF clustering. May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates. In neuronal cells, is a scaffolding protein in the dendritic spines which acts as immobile postsynaptic post able to recruit KIF1A-driven dense core vesicles to dendritic spines (PubMed:30021165)., [UniProtKB, PubMed, PubMed]; Liprin alfa 2 gene expression is increased by cannabis use and associated with neuropsychological function., [RefSeq, PubMed]; Liprin-alpha2 expression is downregulated by androgens in prostate cancer cells. It might play a role in androgen-responsive human prostate cancer & the loss of this gene expression might be associated with the androgen-independence., [RefSeq, PubMed]; Liprins can mediate assembly of target proteins into large protein complexes capable of regulating numerous cellular activities., [RefSeq, PubMed]; Mong the 22 cases, we identified PPFIA2 as a novel candidate gene forIntellect Analysis of copy-neutral loss of heterozygosity (CNLOH) detected one case in which the CNLOH regions seem to be significant. The SNP array detected a modest fraction of small causative CNVs, which is explained by the fact that the majority of causative CNVs have larger sizes, and those had been mostly identified in the two previous screenings., [RefSeq, PubMed]; The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KVT5;B3KXA0;B7Z2A6;B7Z3U9;B7Z663;B7ZKZ5;E7ERB8;E7ETG6;F8VP68;Q2M3G8", "ec_number_list": [], "go_molecular_function": "GO:0098919 structural constituent of postsynaptic density;GO:0099181 structural constituent of presynapse", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0009986 cell surface;GO:0014069 postsynaptic density", "go_biological_process": "GO:0050808 synapse organization;GO:0007160 cell-matrix adhesion;GO:0060998 regulation of dendritic spine development;GO:0061001 regulation of dendritic spine morphogenesis;GO:2000300 regulation of synaptic vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "O75334-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40926-1", "uniprot_id": [ { "id": "MDHM_HUMAN", "url": "https://www.uniprot.org/uniprot/P40926", "type": "external" } ], "mass": 35503.0, "length": 338, "protein_name": "Malate dehydrogenase, mitochondrial", "gene_name": "MDH2", "organism": "Human", "refseq_name": "malate dehydrogenase, mitochondrial isoform 2 precursor", "refseq_ac": [ { "id": "NP_001269332", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269332", "type": "external" } ], "gene_names_uniprotkb": "MDH2", "gene_names_refseq": "DEE51; EIEE51; M-MDH; MDH2; MDH; MGC:3559; MOR1", "protein_names_uniprotkb": "Malate dehydrogenase, mitochondrial; 1.1.1.37", "protein_names_refseq": "malate dehydrogenase 2, NAD (mitochondrial); malate dehydrogenase, mitochondrial isoform 2 precursor; malate dehydrogenase, mitochondrial; testicular tissue protein Li 120", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 51 (Disease Ontology:DOID:0080433); brain ischemia (Disease Ontology:DOID:2316); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:4191); (R-HSA-71403); (R-HSA-9837999); (R-HSA-9856872)", "pathway_count": 4, "publication_count": 170, "publication_id_list": "1052766;10673423;10727444;11237011;11278619;11923310;12198491;12207025;13181903;14249115;14555658;14623864;14832224;14946179;15234968;15522782;15565635;15592455;15652751;15870080;15877282;15987702;16115876;16143825;16408927;16737955;16740313;16920706;17101804;17182618;17297443;17432878;17579211;17668387;18512783;18566446;18806796;18914071;19117535;1946331;19608861;19841671;2005110;20068230;20068231;20167786;20435888;20847235;21654843;21908771;22262461;22424782;22544926;22710082;23186163;23201127;23481700;23564345;23747254;23931759;24315374;24520911;24715725;25502872;25564869;25576301;25637873;25645385;25802875;26154972;26375851;26504172;26758079;26923599;26992070;27090790;27189937;27374498;27496948;27642048;2775751;27846572;27920218;27989324;28377575;28396416;28510447;28887308;28904123;29242379;29301859;29351928;29431636;29493099;29557506;29932645;30120231;30397120;30444036;3052244;30761759;30779550;30844107;31154438;31217245;31327635;31538237;31695197;31844290;31937595;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33058874;33141586;33214551;33257573;33298915;33392160;33592498;33912179;33936100;33968037;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34704252;34725712;34943861;35051231;35083852;35154160;35251023;35366151;35580925;35870450;36010968;36139014;36159820;36215666;36241641;36420423;36629048;37938771;38609156;38665916;39738099;40596516;4687397;7623837;8200987;8597574;8616157;9765290;9765291;9792106;9792662;9809442", "class_list": "", "function": "Integrated genomic, transcriptomic and metabolomic analysis reveals MDH2 mutation-induced metabolic disorder in recurrent focal segmental glomerulosclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]., [RefSeq]; Mitochondrial malate dehydrogenase that catalyzes the reversible conversion of malate to oxaloacetate using NAD(+) as a cofactor (PubMed:27989324). Plays a central role in the tricarboxylic acid (TCA) cycle contributing to cellular respiration and energy production via the mitochondrial electron transport chain (PubMed:35366151). Also participates in the malate-aspartate NADH shuttle, facilitating transfer of reducing equivalents between cytosol and mitochondria to maintain redox balance (NAD(+)/NADH homeostasis) and support metabolic flux between compartments (By similarity). In addition to its metabolic role, binds to RNA in cells, associating with cytosolic RNAs including tRNAs and mRNAs (PubMed:38609156)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Structural Comparison of hMDH2 Complexed with Natural Substrates and Cofactors: The Importance of Phosphate Binding for Active Conformation and Catalysis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K414;B2RE78;B4DE44;E9PDB2;O43682", "ec_number_list": [ { "id": "1.1.1.399", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.399", "type": "external" }, { "id": "1.1.1.95", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.95", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" }, { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "4.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.2", "type": "external" }, { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.37", "type": "external" }, { "id": "4.98.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.98.1.1", "type": "external" }, { "id": "1.1.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.38", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "1.3.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.1", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "1.1.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.41", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "3.4.21.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.92", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "2.7.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.23", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.4", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0030060 L-malate dehydrogenase (NAD+) activity;GO:0046554 L-malate dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0016020 membrane", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006094 gluconeogenesis;GO:0009060 aerobic respiration;GO:0006108 malate metabolic process;GO:0043490 malate-aspartate shuttle", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "P40926-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16384-1", "uniprot_id": [ { "id": "SSX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16384", "type": "external" } ], "mass": 21931.0, "length": 188, "protein_name": "Protein SSX1", "gene_name": "SSX1", "organism": "Human", "refseq_name": "protein SSX1", "refseq_ac": [ { "id": "NP_001265620", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265620", "type": "external" } ], "gene_names_uniprotkb": "SSX1", "gene_names_refseq": "CT5.1; SPGFX5; SSRC; SSX1", "protein_names_uniprotkb": "Protein SSX1; CT5.1; Cancer/testis antigen 5.1; Synovial sarcoma, X breakpoint 1", "protein_names_refseq": "cancer/testis antigen 5.1; cancer/testis antigen family 5, member 1; protein SSX1; sarcoma, synovial, X-chromosome-related 1; synovial sarcoma, X breakpoint 1", "tax_id": 9606, "disease": "X-linked spermatogenic failure 5 (Disease Ontology:DOID:0070596); synovial sarcoma (Disease Ontology:DOID:5485)", "pathway": " (hsa:6756)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "18669648;23186163;26811146;29502955;29893303;32488085;36796361;7539744;7655467", "class_list": "", "function": "Could act as a modulator of transcription (PubMed:7539744). Plays a role in spermatogenesis (PubMed:36796361)., [UniProtKB, PubMed, PubMed]; SS18-SSX1 deregulates developmental programs to drive transformation by hijacking a transcriptional repressive complex to aberrantly activate gene expression Erratum:[Cancer Cell. 2018 Aug 13;34(2):346-348. doi: 10.1016/j.ccell.2018.07.006. PMID: 30107180], [RefSeq, PubMed]; Synovial sarcoma (SS) is considered as high-grade tumors with a poor prognosis. Novel therapies targeted at fusion oncogene, SS18-SSX-derived peptide vaccine, epidermal growth factor receptor, and vascular endothelial growth factor are the future hope in SS., [RefSeq, PubMed]; The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX2 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A3KN76;Q08AJ2;Q5JQ64", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0036126 sperm flagellum", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q16384-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P45985-1", "uniprot_id": [ { "id": "MP2K4_HUMAN", "url": "https://www.uniprot.org/uniprot/P45985", "type": "external" } ], "mass": 44288.0, "length": 399, "protein_name": "Dual specificity mitogen-activated protein kinase kinase 4", "gene_name": "MAP2K4", "organism": "Human", "refseq_name": "dual specificity mitogen-activated protein kinase kinase 4 isoform 2", "refseq_ac": [ { "id": "NP_001268364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268364", "type": "external" } ], "gene_names_uniprotkb": "MAP2K4; JNKK1; MEK4; MKK4; PRKMK4; SEK1; SERK1; SKK1", "gene_names_refseq": "JNKK1; JNKK; MAP2K4; MAPKK4; MEK4; MKK4; PRKMK4; SAPKK-1; SAPKK1; SEK1; SERK1; SKK1", "protein_names_uniprotkb": "Dual specificity mitogen-activated protein kinase kinase 4; 2.7.12.2; JNK-activating kinase 1; JNKK; MAP kinase kinase 4; MAPK/ERK kinase 4; MAPKK 4; MEK 4; SAPK kinase 1; SAPK/ERK kinase 1; SAPKK-1; SAPKK1; SEK1; Stress-activated protein kinase kinase 1; c-Jun N-terminal kinase kinase 1", "protein_names_refseq": "JNK-activated kinase 1; JNK-activating kinase 1; MAP kinase kinase 4; MAPK/ERK kinase 4; MAPKK 4; MEK 4; SAPK/ERK kinase 1; c-Jun N-terminal kinase kinase 1; c-Jun NH2-terminal kinase kinase 1; dual specificity mitogen-activated protein kinase kinase 4 isoform 2; dual specificity mitogen-activated protein kinase kinase 4; stress-activated protein kinase kinase 1", "tax_id": 9606, "disease": "tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); ovarian serous carcinoma (Disease Ontology:DOID:0050933); urinary bladder cancer (Disease Ontology:DOID:11054); lung cancer (Disease Ontology:DOID:1324); pancreatic cancer (Disease Ontology:DOID:1793); transient cerebral ischemia (Disease Ontology:DOID:224); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); invasive ductal carcinoma (Disease Ontology:DOID:3008); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); gastric adenocarcinoma (Disease Ontology:DOID:3717); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hepatocellular carcinoma (Disease Ontology:DOID:684); prostate carcinoma in situ (Disease Ontology:DOID:8634); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261)", "pathway": " (hsa:6416); (R-HSA-2559580); (R-HSA-2871796); (R-HSA-450321); (R-HSA-5210891); (R-HSA-5684264)", "pathway_count": 6, "publication_count": 185, "publication_id_list": "10026222;10347217;10395673;10523831;10722742;10727406;10772813;10871633;11007481;11090355;11104681;11158290;11237011;11278486;11306453;11340169;11564866;11707464;11804587;12134156;12189133;12193592;12421820;12435631;12482991;12667451;12670394;12788955;12808055;12832462;13130464;1438214;14507994;14532106;14673179;15169888;15287722;15328343;15337774;15548136;15563468;15596135;15778223;15837794;15866172;15911620;15998799;16000309;16186825;16337592;16436515;1644824;16806191;16826196;17210787;17234158;17254968;17255097;17276500;17332741;17344414;17344846;17395714;17496909;17540168;17568772;17765224;17825402;17875933;18365017;18669648;18793328;19124833;19369195;19413330;19451217;19451218;19462008;19528227;19574218;19592646;19782076;19909365;20068231;20589745;20732303;20801953;2114169;21333379;21986495;22020331;22276160;22325352;22336108;22539006;22683641;22988300;23157661;23755811;24129315;24275569;25892735;25974265;26028649;27397612;27846572;27862975;28832583;29242379;29351928;29393594;29508533;29557506;29632046;29769354;30166526;30680530;31020640;31154438;31844290;32157095;32161166;32357974;32938616;33028008;33101607;33592498;33717175;33968037;34357683;35051231;35580925;35615401;36181561;36284347;40596516;6328915;7535770;7588633;7716521;7816143;7839144;7854123;7855889;7859739;7997270;8001816;8051159;8078588;8259215;8319905;8493579;8533096;8622669;8622688;8626550;8663278;8673706;8702662;8741839;8774846;8846784;8974401;8986718;8995445;9003778;9030721;9099726;9162092;9182538;9195981;9199344;9529249;9535861;9563949;9564042;9622070;9628874;9639556;9703991;9712898;9768359;9824166;9950430;9989831", "class_list": "", "function": "Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. With MAP2K7/MKK7, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylation site in the Thr-Pro-Tyr motif. MAP2K4 shows preference for phosphorylation of the Tyr residue and MAP2K7/MKK7 for the Thr residue. The phosphorylation of the Thr residue by MAP2K7/MKK7 seems to be the prerequisite for JNK activation at least in response to pro-inflammatory cytokines, while other stimuli activate both MAP2K4/MKK4 and MAP2K7/MKK7 which synergistically phosphorylate JNKs. MAP2K4 is required for maintaining peripheral lymphoid homeostasis. The MKK/JNK signaling pathway is also involved in mitochondrial death signaling pathway, including the release cytochrome c, leading to apoptosis. Whereas MAP2K7/MKK7 exclusively activates JNKs, MAP2K4/MKK4 additionally activates the p38 MAPKs MAPK11, MAPK12, MAPK13 and MAPK14., [UniProtKB, PubMed]; Hsa_circ_0081069 facilitates tongue squamous cell carcinoma progression by modulating MAP2K4 expression via miR-634., [RefSeq, PubMed]; PCAT19 Regulates the Proliferation and Apoptosis of Lung Cancer Cells by Inhibiting miR-25-3p via Targeting the MAP2K4 Signal Axis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R7N7;B3KYB2;D3DTS5;Q5U0B8;Q6FHX4;Q6P9H2;Q6PIE6", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0008545 JUN kinase kinase activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0038127 ERBB signaling pathway;GO:0007165 signal transduction;GO:0007528 neuromuscular junction development;GO:0000165 MAPK cascade;GO:0007254 JNK cascade", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "P45985-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43358-1", "uniprot_id": [ { "id": "MAGA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P43358", "type": "external" } ], "mass": 34899.0, "length": 317, "protein_name": "Melanoma-associated antigen 4", "gene_name": "MAGEA4", "organism": "Human", "refseq_name": "melanoma-associated antigen 4", "refseq_ac": [ { "id": "NP_001011548", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011548", "type": "external" } ], "gene_names_uniprotkb": "MAGEA4; MAGE4", "gene_names_refseq": "CT1.4; MAGE-41; MAGE-X2; MAGE4A; MAGE4B; MAGE4; MAGEA4", "protein_names_uniprotkb": "Melanoma-associated antigen 4; CT1.4; Cancer/testis antigen 1.4; MAGE-4 antigen; MAGE-41 antigen; MAGE-X2 antigen", "protein_names_refseq": "MAGE-4 antigen; MAGE-41 antigen; MAGE-X2 antigen; cancer/testis antigen 1.4; cancer/testis antigen family 1, member 4; melanoma antigen family A, 4; melanoma antigen family A4; melanoma-associated antigen 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:4103)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;11502003;16959974;18707149;20058876;22842486;23092983;25645385;27377895;27600516;27869121;28228285;28229514;29786170;29790264;31209257;31222486;31844290;32002290;32157095;32532817;32938616;32983136;33771892;34078123;34290406;34405274;34725712;35736245;35874702;36010968;36589698;36768214;37100770;37266606;38920720;39394480;39572159;39990658;7642112;7927540;8037761", "class_list": "", "function": "Clinicopathological assessment of cancer/testis antigens NYESO1 and MAGEA4 in osteosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; Involvement of NY-ESO-1 and MAGE-A4 in the pathogenesis of desmoid tumors., [RefSeq, PubMed]; Regulates cell proliferation through the inhibition of cell cycle arrest at the G1 phase (PubMed:22842486). Also negatively regulates p53-mediated apoptosis (PubMed:22842486)., [UniProtKB, PubMed]; This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q14798", "ec_number_list": [], "go_molecular_function": "GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0043066 negative regulation of apoptotic process;GO:0045787 positive regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P43358-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q29983-1", "uniprot_id": [ { "id": "MICA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q29983", "type": "external" } ], "mass": 42915.0, "length": 383, "protein_name": "MHC class I polypeptide-related sequence A", "gene_name": "MICA", "organism": "Human", "refseq_name": "MHC class I polypeptide-related sequence A isoform 1 (MICA*001) precursor", "refseq_ac": [ { "id": "NP_000238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000238", "type": "external" } ], "gene_names_uniprotkb": "MICA; PERB11.1", "gene_names_refseq": "MIC-A; MICA; PERB11.1", "protein_names_uniprotkb": "MHC class I polypeptide-related sequence A; MIC-A", "protein_names_refseq": "HLA class I antigen; MHC class I chain-related protein A; MHC class I polypeptide-related sequence A isoform 1 (MICA*001) precursor; MHC class I related chain A; MHC class I related sequence A; major histocompatibility complex class I chain-related protein A; stress inducible class I homolog", "tax_id": 9606, "disease": "psoriasis 1 (Disease Ontology:DOID:0111286); psoriasis (Disease Ontology:DOID:8893); psoriatic arthritis, susceptibility to (MONDO:MONDO:0100232)", "pathway": " (hsa:100507436); (R-HSA-198933)", "pathway_count": 2, "publication_count": 146, "publication_id_list": "10.1101/2023.09.13.557529;10323458;10331160;10359807;10363723;10367903;10369917;10369920;10380703;10380704;10426993;10426994;10499918;10691930;10746781;10746789;10752636;11053635;11224526;11237011;11265639;11323699;11485740;11489943;11491531;11513152;11556966;11556982;11777960;11807247;11830641;11841487;11857637;11858820;11861603;11955593;11955595;11955599;12022360;12074712;12213321;12370336;12384702;12466900;12483297;12542746;12588680;12902493;14719373;14970179;15034010;15104678;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;15995699;16014749;16091383;16129954;16339513;16380601;16551255;16634869;16737824;16750166;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;17495932;17565371;18031695;18037897;18055229;18202175;18209062;18230726;18234675;18287244;18593354;19149696;19359216;19592130;19667965;19793804;20730098;21241660;21800138;21841309;21877119;21928280;22396535;23695528;23929856;24190977;24305946;24872415;25703557;25716998;26284469;26300885;29437277;29741879;31844290;32350084;33392160;33592498;33968037;34357683;35051231;35251023;36010968;36241641;37074911;38474281;38923360;39116667;7531291;7542404;7927538;8022771;8178173;8613147;8781120;8901601;8995416;9285412;9314561;9396860;9497295;9700512;9730896", "class_list": "", "function": "Characterisation of the novel MICA*112:02 allele by next generation sequencing., [RefSeq, PubMed]; Expression and function of the major histocompatibility complex (MHC) class I chain-related A (MICA)*010 in NK cell killing activity., [RefSeq, PubMed]; Functional MICA Variants Are Differentially Associated with Immune-Mediated Inflammatory Diseases. Publication Status: Online-Only, [RefSeq, PubMed]; MICA is associated with susceptibility to psoriatic arthritis. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Multiple myeloma patients harbor circulating MHC class I chain-related protein A (MICA), which triggers the down-regulation of NK cell receptor D (NKG2D) and impaired lymphocyte cytotoxicity. Erratum:[Proc Natl Acad Sci U S A. 2024 Jul 9;121(28):e2410959121. doi: 10.1073/pnas.2410959121. PMID: 38968129], [RefSeq, PubMed]; This gene encodes the highly polymorphic major histocompatability complex class I chain-related protein A. The protein product is expressed on the cell surface, although unlike canonical class I molecules it does not seem to associate with beta-2-microglobulin. It is a ligand for the NKG2-D type II integral membrane protein receptor. The protein functions as a stress-induced antigen that is broadly recognized by intestinal epithelial gamma delta T cells. Variations in this gene have been associated with susceptibility to psoriasis 1 and psoriatic arthritis, and the shedding of MICA-related antibodies and ligands is involved in the progression from monoclonal gammopathy of undetermined significance to multiple myeloma. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]; Widely expressed membrane-bound protein which acts as a ligand to stimulate an activating receptor KLRK1/NKG2D, expressed on the surface of essentially all human natural killer (NK), gammadelta T and CD8 alphabeta T-cells (PubMed:11491531, PubMed:11777960). Up-regulated in stressed conditions, such as viral and bacterial infections or DNA damage response, serves as signal of cellular stress, and engagement of KLRK1/NKG2D by MICA triggers NK-cells resulting in a range of immune effector functions, such as cytotoxicity and cytokine production (PubMed:10426993)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 7, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8KQR0;A9LRW5;A9QVE0;B1VJF1;O60917;O60918;O60919;O60920;O60933;O77956;O78150;O78151;O78152;O78153;O97987;O97988;O97989;O97990;O97991;O97992;O97993;O97994;O97995;O98234;O98235;O98236;O98237;O98238;P79506;P79507;P79508;P79509;P79510;P79511;P79512;P79513;P79514;P79515;P79516;P79517;P79518;P79519;P79520;P79521;Q5C9P8;Q5XM81;Q70I48;Q70I49;Q7JFH9;Q7JFI0;Q7JFI1;Q7JFI2;Q7YQ98;Q861I1;Q95464;Q95HA2;Q95HD6;Q95HN4;Q95HN5;Q95HN6;Q95IB2;Q95IY7;Q99692;Q9BCR3;Q9BCR4;Q9BCR5;Q9BCR6;Q9BCR7;Q9BCR8;Q9BCR9;Q9BCS0;Q9BCS1;Q9BCS2;Q9BCS3;Q9BCS4;Q9BD20;Q9GIZ1;Q9GIZ2;Q9GIZ3;Q9GIZ4;Q9GIZ5;Q9GIZ6;Q9GJ01;Q9GJ02;Q9GJ03;Q9GJ04;Q9GJ05;Q9GJ06;Q9GJ07;Q9GJ08;Q9GJ09;Q9MY21;Q9TQ86;Q9TQ87;Q9TQ88;Q9TQ89;Q9TQ92;Q9TQ93;Q9TQ94;Q9TQ95;Q9TQ96;Q9TQ97;Q9TQ98;Q9TQ99;Q9TQA0;Q9TQA1;Q9TQA2;Q9TQA3;Q9TQA4;Q9TQI9;Q9TQJ0;Q9TQJ1;Q9TQJ9;Q9TQK0;Q9TQK1;Q9TQK2;Q9TQK8;Q9TQK9;Q9TQL0;Q9TQL1;Q9TQL2;Q9TQL3;Q9TQL4;Q9UE04;Q9UE05;Q9UE06;Q9UE11", "ec_number_list": [], "go_molecular_function": "GO:0046703 natural killer cell lectin-like receptor binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0002418 immune response to tumor cell;GO:0006955 immune response;GO:0051607 defense response to virus;GO:0006974 DNA damage response;GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "Q29983-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18564-1", "uniprot_id": [ { "id": "ITB6_HUMAN", "url": "https://www.uniprot.org/uniprot/P18564", "type": "external" } ], "mass": 85936.0, "length": 788, "protein_name": "Integrin beta-6", "gene_name": "ITGB6", "organism": "Human", "refseq_name": "integrin beta-6 isoform a precursor", "refseq_ac": [ { "id": "NP_000879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000879", "type": "external" } ], "gene_names_uniprotkb": "ITGB6", "gene_names_refseq": "AI1H; ITGB6", "protein_names_uniprotkb": "Integrin beta-6", "protein_names_refseq": "integrin beta-6 isoform a precursor; integrin, beta 6", "tax_id": 9606, "disease": "amelogenesis imperfecta type 1H (Disease Ontology:DOID:0110064); cancer (Disease Ontology:DOID:162); asthma (Disease Ontology:DOID:2841); liver cirrhosis (Disease Ontology:DOID:5082); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:3694); (R-HSA-1566948); (R-HSA-2129379); (R-HSA-216083); (R-HSA-2173789); (R-HSA-3000178)", "pathway_count": 6, "publication_count": 181, "publication_id_list": "37268159;10022829;10025398;10198291;10209034;10339611;10366422;10424889;10438935;10543983;10544250;10593924;10605720;10640428;10646116;10673326;10673366;10713152;10811134;10930463;10936461;10982388;11084047;11100470;11141505;11158588;11237011;11259413;11390472;11481325;11518510;11572855;11713259;11807098;11970960;11980922;12225811;12358597;12415008;12429738;12482908;12496264;12585966;12682293;12807887;1333888;1376317;1382574;1400330;14701737;14715956;15075323;15184403;15194773;15240572;15296743;15330449;15345499;15350224;15383545;1544908;15564041;15713743;1588291;15899827;16002701;16051604;16239428;16293224;16493581;16731529;16754661;16906757;16933105;1708799;17158881;17324935;17339034;17545607;17588949;17968485;18339631;18469808;18710925;18775695;19502598;19720988;20033473;2010551;2059554;20625381;20705068;21642437;21646718;21789315;22134916;22278742;22539938;22884367;23290524;23374253;2364322;2365683;2412224;2420006;24305999;2430969;24319098;24367260;24715725;25383667;26992070;28117447;28411811;28834231;29242379;29331515;29393594;29557506;29632046;29741879;29789417;31844290;32157095;32502341;34185709;35051231;35580925;36284347;37074911;38316250;38418753;38890650;6123066;6193777;6439184;7499434;7500359;7505120;7525578;7527058;7534784;7541634;7542249;7542669;7559467;7685013;7693660;7693733;7737999;7852349;8002934;8047140;8118028;8242743;8344274;8440685;8560266;8617364;8798654;8838667;8910476;8943283;8947046;8980228;9233797;9251239;9252349;9294172;9311995;9341124;9346959;9346966;9426447;9443892;9565552;9685393;9725916;9858236;9865696;9949188", "class_list": "", "function": "(Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for Coxsackievirus A9 and Coxsackievirus B1., [UniProtKB, PubMed, PubMed]; (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for Herpes simplex virus-1/HHV-1 (PubMed:24367260)., [UniProtKB, PubMed]; Acidity-induced ITGB6 promote migration and invasion of lung cancer cells by epithelial-mesenchymal transition and focal adhesion., [RefSeq, PubMed]; CRISPR/Cas9-mediated knock out of ITGB6 in human OSCC cells reduced migration and proliferation ability. Publication Status: Online-Only, [RefSeq, PubMed]; ITGB6 promotes pancreatic fibrosis and aggravates the malignant process of pancreatic cancer via JAK2/STAT3 signaling pathway., [RefSeq, PubMed]; Integrin alpha-V:beta-6 (ITGAV:ITGB6) is a receptor for fibronectin and cytotactin (PubMed:17158881, PubMed:17545607). It recognizes the sequence R-G-D in its ligands (PubMed:17158881, PubMed:17545607). Internalization of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma cell invasion (PubMed:17158881, PubMed:17545607). ITGAV:ITGB6 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:17158881). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 59, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 23, "disease_count": 5, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B2R9W5;C9JA97;Q0VA95;Q16500;Q53RG5;Q53RR6", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0015026 coreceptor activity;GO:0046872 metal ion binding;GO:0001618 virus receptor activity;GO:0140677 molecular function activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0043235 receptor complex;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway;GO:0016477 cell migration;GO:0007160 cell-matrix adhesion;GO:0033627 cell adhesion mediated by integrin", "synthesized_glycan_count": 0, "hit_score": 21.1, "record_id": "P18564-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H936-1", "uniprot_id": [ { "id": "GHC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H936", "type": "external" } ], "mass": 34470.0, "length": 323, "protein_name": "Mitochondrial glutamate carrier 1", "gene_name": "SLC25A22", "organism": "Human", "refseq_name": "mitochondrial glutamate carrier 1 isoform 1", "refseq_ac": [ { "id": "NP_001177989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177989", "type": "external" } ], "gene_names_uniprotkb": "SLC25A22; GC1", "gene_names_refseq": "DEE3; EIEE3; GC-1; GC1; NET44; SLC25A22", "protein_names_uniprotkb": "Mitochondrial glutamate carrier 1; GC-1; Glutamate/H(+) symporter 1; Solute carrier family 25 member 22", "protein_names_refseq": "Early infantile epileptic encephalopathy 3; glutamate/H(+) symporter 1; mitochondrial glutamate carrier 1 isoform 1; mitochondrial glutamate carrier 1; solute carrier family 25 (mitochondrial carrier: glutamate), member 22", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 3 (Disease Ontology:DOID:0080440)", "pathway": " (hsa:79751); (R-HSA-442660); (R-HSA-9856872)", "pathway_count": 3, "publication_count": 55, "publication_id_list": "10446133;10684912;10889531;10973981;11237011;11698620;11897791;12115694;12151341;15286787;15286788;15565635;15592994;15632147;16226721;16751771;16920706;17502375;17726476;18599538;19780765;2008212;2387399;24715725;25637873;27452731;2775751;28832583;29242379;29431636;29508533;29557506;30379171;30482097;3052244;31285529;31538237;31848261;32350084;32502341;32814111;33141586;33968037;34019948;35051231;36010968;40914422;4687397;7651355;7874447;8125921;8183239;8597574;8632143;9845349", "class_list": "", "function": "A novel SLC25A22 mutation in an unrelated patient born from first cousin Algerian parents and presenting severe epileptic encephalopathy, is described., [RefSeq, PubMed]; EIEE type 3 is caused by variants affecting function, in SLC25A22, which is also responsible for epilepsy of infancy with migrating focal seizures (EIMFS)., [RefSeq, PubMed]; In Colorectal Cancer Cells With Mutant KRAS, SLC25A22-Mediated Glutaminolysis Reduces DNA Demethylation to Increase WNT Signaling, Stemness, and Drug Resistance., [RefSeq, PubMed]; Mitochondrial glutamate/H(+) symporter. Responsible for the transport of glutamate from the cytosol into the mitochondrial matrix with the concomitant import of a proton (PubMed:11897791). Plays a role in the control of glucose-stimulated insulin secretion (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Responsible for the transport of glutamate from the cytosol into the mitochondrial matrix with the concomitant import of a proton (symport system)., [UniProtKB, UniProtKB]; SLC25A22 is highly expressed in osteosarcoma, promoting osteosarcoma cell proliferation and invasion by inhibiting the phosphatase and tensin homolog signaling pathway, [RefSeq, PubMed]; This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K366;C9J1H6;E9PJD3;E9PKB2;E9PL68;E9PN26;E9PNQ3;E9PP01;E9PR97;Q8TBU8", "ec_number_list": [], "go_molecular_function": "GO:0005280 amino acid:proton symporter activity;GO:0005313 L-glutamate transmembrane transporter activity;GO:0015183 L-aspartate transmembrane transporter activity;GO:0015293 symporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0050796 regulation of insulin secretion;GO:0006836 neurotransmitter transport;GO:0015810 aspartate transmembrane transport;GO:0015813 L-glutamate transmembrane transport;GO:0043490 malate-aspartate shuttle", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9H936-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N335-1", "uniprot_id": [ { "id": "GPD1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N335", "type": "external" } ], "mass": 38419.0, "length": 351, "protein_name": "Glycerol-3-phosphate dehydrogenase 1-like protein", "gene_name": "GPD1L", "organism": "Human", "refseq_name": "glycerol-3-phosphate dehydrogenase 1-like protein", "refseq_ac": [ { "id": "NP_055956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055956", "type": "external" } ], "gene_names_uniprotkb": "GPD1L; KIAA0089", "gene_names_refseq": "GPD1-L; GPD1L", "protein_names_uniprotkb": "Glycerol-3-phosphate dehydrogenase 1-like protein; 1.1.1.8; GPD1-L", "protein_names_refseq": "glycerol-3-phosphate dehydrogenase 1-like protein", "tax_id": 9606, "disease": "Brugada syndrome 2 (Disease Ontology:DOID:0110219)", "pathway": " (hsa:23171); (R-HSA-1483166)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "10455175;10506173;10553003;10681567;11031251;11112443;11237011;11788596;11830583;12063250;12161451;12359733;12522102;12963729;14573790;15367102;16460752;16495223;16620771;16704971;16864775;17028579;17170135;17707131;17967976;17967977;18238778;18718904;18762705;19336658;19666841;19745168;20705608;21173190;22777291;22922100;23176821;23176823;23807634;24715725;24966474;26711011;26992070;28510447;2925608;29557506;30429286;31844290;32157095;32387766;32488085;32897882;32938616;33107174;33691108;33968037;33981976;34087483;34509645;3458202;35051231;36064558;36215666;36241641;37382962;37685919;37938771;7060561;7821823;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9461603;9582313", "class_list": "", "function": "A GPD1-L mutation decreases SCN5A surface membrane expression, reduces inward Na+ current, and causes Brugada syndrome, [RefSeq, PubMed]; Atrial myocyte-derived exosomal microRNA contributes to atrial fibrosis in atrial fibrillation. Publication Status: Online-Only, [RefSeq, PubMed]; GPD1L inhibits renal cell carcinoma progression by regulating PINK1/Parkin-mediated mitophagy., [RefSeq, PubMed]; GPD1L is negatively associated with HIF1alpha expression and predicts lymph node metastasis in oral and HPV- Oropharyngeal cancer., [RefSeq, PubMed]; GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A., [RefSeq, PubMed]; Mutations in GPD1-L as a pathogenic cause for a small subset of sudden infant death syndrome via a secondary loss-of-function mechanism, [RefSeq, PubMed]; No non-synonymous mutations were found, indicating that GPD1L does not appear to be a major cause of Brugada syndrome in a Japanese population. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L., [UniProtKB, PubMed, PubMed]; Prognostic and Predictive Utility of GPD1L in Human Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). [provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K9U3;Q14702;Q9BRM5", "ec_number_list": [ { "id": "1.1.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.8", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0017080 sodium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0051287 NAD binding;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization;GO:2000010 positive regulation of protein localization to cell surface;GO:0005975 carbohydrate metabolic process;GO:0019674 NAD+ metabolic process;GO:0010765 positive regulation of sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q8N335-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y468-5", "uniprot_id": [ { "id": "LMBL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y468", "type": "external" } ], "mass": 92297.0, "length": 840, "protein_name": "Lethal(3)malignant brain tumor-like protein 1", "gene_name": "L3MBTL1", "organism": "Human", "refseq_name": "lethal(3)malignant brain tumor-like protein 1 isoform 1", "refseq_ac": [ { "id": "NP_056293", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056293", "type": "external" } ], "gene_names_uniprotkb": "L3MBTL1; KIAA0681; L3MBTL; L3MBT", "gene_names_refseq": "H-L(3)MBT; L3MBTL1; L3MBTL; ZC2HC3; dJ138B7.3", "protein_names_uniprotkb": "Lethal(3)malignant brain tumor-like protein 1; H-l(3)mbt protein; H-l(3)mbt; L(3)mbt protein homolog; L(3)mbt-like; L3MBTL1", "protein_names_refseq": "L3MBTL1, histone methyl-lysine binding protein; l(3)mbt protein homolog; l(3)mbt-like 1; lethal (3) malignant brain tumor l(3); lethal(3)malignant brain tumor-like protein 1 isoform 1; lethal(3)malignant brain tumor-like protein 1", "tax_id": 9606, "disease": "brain cancer (Disease Ontology:DOID:1319); breast cancer (Disease Ontology:DOID:1612)", "pathway": " (hsa:26013); (R-HSA-6804760)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10445843;10518217;11511361;12588862;12842041;15123827;15334543;15448695;15525938;16415881;17108971;17170761;17540172;17707234;18026117;18042461;18408754;18833288;19011621;20118233;20870719;20870725;21625555;22120668;22362889;23186163;25754204;27553422;28228285;29737552;30315122;31844290;32897882;32938616;33298915;33515207;35051231;38253038", "class_list": "", "function": "Expression and DNA Methylation Status of the Imprinted Genes PEG10 and L3MBTL1 in the Umbilical Cord Blood and Placenta of the Offspring of Assisted Reproductive Technology., [RefSeq, PubMed]; L3MBTL may have a role in myeloid leukemia, [RefSeq, PubMed]; Loss of the paternally derived allele of the imprinted L3MBTL1 gene is associated with Shwachman-Diamond syndrome., [RefSeq, PubMed]; Polycomb group (PcG) protein that specifically recognizes and binds mono- and dimethyllysine residues on target proteins, thereby acting as a 'reader' of a network of post-translational modifications. PcG proteins maintain the transcriptionally repressive state of genes: acts as a chromatin compaction factor by recognizing and binding mono- and dimethylated histone H1b/H1-4 at 'Lys-26' (H1bK26me1 and H1bK26me2) and histone H4 at 'Lys-20' (H4K20me1 and H4K20me2), leading to condense chromatin and repress transcription. Recognizes and binds p53/TP53 monomethylated at 'Lys-382', leading to repress p53/TP53-target genes. Also recognizes and binds RB1/RB monomethylated at 'Lys-860'. Participates in the ETV6-mediated repression. Probably plays a role in cell proliferation. Overexpression induces multinucleated cells, suggesting that it is required to accomplish normal mitosis., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Represents a previously undescribed imprinted locus, a vertebrate Polycomb group gene shown to be regulated by this mechanism, and has implications for the pathogenesis of myeloid malignancies associated with 20q deletions Erratum:[Proc Natl Acad Sci U S A. 2021 Feb 16;118(7):e2101413118. doi: 10.1073/pnas.2101413118. PMID: 33558248], [RefSeq, PubMed]; Results revealed that the three RNAs-based biomarker network (long non-coding intergenic RNA-[lncRNA RP11-909B2.1], Homo sapiens microRNA-595 [hsa-miRNA-595], and L3MBTL1 mRNA), had high sensitivity and specificity for discriminating CRC from healthy controls and also from benign colorectal neoplasm., [RefSeq, PubMed]; The ability of TEL to repress TEL-responsive promoters is enhanced by the presence of H-L(3)MBT, an effect dependent on the H-L(3)MBT and the TEL interacting domains, which are mapped to their respective SPM/SAM domains., [RefSeq, PubMed]; The polycomb group protein L3MBTL1 represses a SMAD5-mediated hematopoietic transcriptional program in human pluripotent stem cells., [RefSeq, PubMed]; This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DRC9;E1P5W7;Q5H8Y8;Q5H8Y9;Q8IUV7;Q9H1E6;Q9H1G5;Q9UG06;Q9UJB9;Q9Y4C9", "ec_number_list": [], "go_molecular_function": "GO:0032093 SAM domain binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000793 condensed chromosome;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0030097 hemopoiesis;GO:0006325 chromatin organization;GO:0045652 regulation of megakaryocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9Y468-5", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31153-1", "uniprot_id": [ { "id": "METK2_HUMAN", "url": "https://www.uniprot.org/uniprot/P31153", "type": "external" } ], "mass": 43661.0, "length": 395, "protein_name": "S-adenosylmethionine synthase isoform type-2", "gene_name": "MAT2A", "organism": "Human", "refseq_name": "S-adenosylmethionine synthase isoform type-2", "refseq_ac": [ { "id": "NP_005902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005902", "type": "external" } ], "gene_names_uniprotkb": "MAT2A; AMS2; MATA2", "gene_names_refseq": "MAT2A; MATA2; MATII; SAMS2", "protein_names_uniprotkb": "S-adenosylmethionine synthase isoform type-2; 2.5.1.6; AdoMet synthase 2; MAT 2; MAT-II; Methionine adenosyltransferase 2; Methionine adenosyltransferase II", "protein_names_refseq": "MAT 2; MAT-II; S-adenosylmethionine synthase isoform type-2; adoMet synthase 2; adoMet synthetase 2; methionine adenosyltransferase 2; methionine adenosyltransferase II, alpha; testicular tissue protein Li 121", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); lung cancer (Disease Ontology:DOID:1324); lipid metabolism disorder (Disease Ontology:DOID:3146); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:4144); (R-HSA-156581)", "pathway_count": 2, "publication_count": 133, "publication_id_list": "10331075;10514445;10644686;10978155;11466336;11511179;12163696;12590576;13981612;1426236;15104674;15788214;16267626;16407288;16413417;18539146;18669648;19608861;19664994;20068231;21193388;21209280;22544926;22869377;23186163;23189196;23301498;23425511;23481700;24366607;24715725;24734162;25075345;25418920;25469497;25576301;25645385;25802875;26154972;26768311;26811146;26858410;26992070;27397612;27570878;27600516;27846572;27862975;27920218;28063628;28228285;28446606;28510447;28514659;28525753;28649982;28832583;28834231;28860189;28904123;29242379;29262316;29331515;29371260;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30484775;30779550;31092671;31217245;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33214551;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35138101;35318648;35482724;35580925;36010968;36215666;36241641;36284347;36581221;37567786;37938771;38665916;38838015;40596516;8968737;9045906;9175157;9586999", "class_list": "", "function": "Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the triphosphate., [UniProtKB, PubMed, PubMed, PubMed]; Expression of vimentin, TPI and MAT2A in human dermal microvascular endothelial cells during angiogenesis in vitro. Publication Status: Online-Only, [RefSeq, PubMed]; Functional analysis of 3'-UTR hairpins supports a two-tiered model for posttranscriptional regulation of MAT2A by METTL16., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K511;B4DN45;D6W5L1;Q53SP5", "ec_number_list": [ { "id": "2.5.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.6", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0036094 small molecule binding;GO:0004478 methionine adenosyltransferase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0048269 methionine adenosyltransferase complex", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0051291 protein heterooligomerization;GO:0006730 one-carbon metabolic process;GO:0006556 S-adenosylmethionine biosynthetic process;GO:0034214 protein hexamerization", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "P31153-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IV0-1", "uniprot_id": [ { "id": "NGLY1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IV0", "type": "external" } ], "mass": 74390.0, "length": 654, "protein_name": "Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase", "gene_name": "NGLY1", "organism": "Human", "refseq_name": "peptide-N(4)-(N-acetyl-beta- glucosaminyl)asparagine amidase isoform 2", "refseq_ac": [ { "id": "NP_001138765", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138765", "type": "external" } ], "gene_names_uniprotkb": "NGLY1; PNG1", "gene_names_refseq": "CDDG; CDG1V; NGLY1; PNG-1; PNG1; PNGase", "protein_names_uniprotkb": "Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase; 3.5.1.52; N-glycanase 1; PNGase; Peptide:N-glycanase; hPNGase", "protein_names_refseq": "hPNGase; peptide-N(4)-(N-acetyl-beta- glucosaminyl)asparagine amidase isoform 2; peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase; peptide:N-glycanase", "tax_id": 9606, "disease": "congenital disorder of deglycosylation 1 (Disease Ontology:DOID:0060728); congenital disorder of deglycosylation (Disease Ontology:DOID:0060991); obsolete NGLY1-deficiency (MONDO:MONDO:0014109)", "pathway": " (hsa:55768); (R-HSA-532668)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10788335;10831608;10929008;11237011;12114544;12145188;14749736;15215856;15358861;15362974;15610852;16055502;16168377;16642983;16807242;18524852;18952826;21495009;22581936;23186163;24651605;25576301;26154972;26375851;26611529;26992070;27388694;27600516;28218747;28228285;28832583;28904123;29031045;29242379;29437277;29557506;29789417;30315122;30379171;30410026;30429286;31154438;31217245;31844290;31848261;31957011;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33392160;33537174;33592498;33717175;33912179;34171305;34932366;35051231;35318648;35580925;36010968;36284347;36528660;37938771;38039131;38067490;38499390;38697387;39171510;8307000", "class_list": "glycogene", "function": "Describes the function of Yeast PNG1 and identifies similar proteins in mouse, human, D. melanogaster, C. elegans, and S. pombe., [RefSeq, PubMed]; NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry. Publication Status: Online-Only, [RefSeq, PubMed]; NGLY1 mutations cause protein aggregation in human neurons., [RefSeq, PubMed]; Ocular features of NGLY1 deficiency from a prospective longitudinal cohort., [RefSeq, PubMed]; Specifically deglycosylates the denatured form of N-linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl-glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting Asn to Asp. Prefers proteins containing high-mannose over those bearing complex type oligosaccharides. Can recognize misfolded proteins in the endoplasmic reticulum that are exported to the cytosol to be destroyed and deglycosylate them, while it has no activity toward native proteins. Deglycosylation is a prerequisite for subsequent proteasome-mediated degradation of some, but not all, misfolded glycoproteins., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Structural basis of sugar recognition by SCF[FBS2] ubiquitin ligase involved in NGLY1 deficiency., [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 7, "mined_n_glycosites": 5, "mined_o_glycosites": 1, "mined_c_glycosites": 1, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 3, "total_c_glycosites": 1, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 920, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B4DJE9;Q59FB1;Q6PJD8;Q9BVR8;Q9NR70", "ec_number_list": [ { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.5.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.52", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" } ], "go_molecular_function": "GO:0000224 peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006457 protein folding;GO:0030513 positive regulation of BMP signaling pathway;GO:0006516 glycoprotein catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q96IV0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100111000001.010.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02962-1", "uniprot_id": [ { "id": "PAX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02962", "type": "external" } ], "mass": 44706.0, "length": 417, "protein_name": "Paired box protein Pax-2", "gene_name": "PAX2", "organism": "Human", "refseq_name": "paired box protein Pax-2 isoform b", "refseq_ac": [ { "id": "NP_000269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000269", "type": "external" } ], "gene_names_uniprotkb": "PAX2", "gene_names_refseq": "FSGS7; PAPRS; PAX-2; PAX2", "protein_names_uniprotkb": "Paired box protein Pax-2", "protein_names_refseq": "paired box homeotic gene 2; paired box protein Pax-2 isoform b; paired box protein Pax-2", "tax_id": 9606, "disease": "renal coloboma syndrome (Disease Ontology:DOID:0090006); focal segmental glomerulosclerosis 7 (Disease Ontology:DOID:0111132); coloboma (Disease Ontology:DOID:12270); nephroblastoma (Disease Ontology:DOID:2154); renal Wilms' tumor (Disease Ontology:DOID:5176); chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:5076); (R-HSA-9761174); (R-HSA-9830364); (R-HSA-9830674)", "pathway_count": 4, "publication_count": 29, "publication_id_list": "11168927;11180607;11237011;1378753;15652857;19690332;19954729;21380624;21575608;22168360;22213154;24357672;24676634;26154972;31848261;32502341;32938616;33298915;33717175;33936100;35051231;36835576;37628926;38185904;39531497;7819127;7981748;8661132;9760197", "class_list": "", "function": "PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database. Publication Status: Online-Only, [RefSeq, PubMed]; PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]; PAX2 is regulated by estrogen/progesterone through promoter methylation in endometrioid adenocarcinoma and has an important role in carcinogenesis via the AKT/mTOR signaling pathway., [RefSeq, PubMed]; Transcription factor that may have a role in kidney cell differentiation (PubMed:24676634). Has a critical role in the development of the urogenital tract, the eyes, and the CNS., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q15105;Q15110;Q15837;Q5SZP2;Q5SZP3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008134 transcription factor binding;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005815 microtubule organizing center;GO:0000785 chromatin;GO:0034451 centriolar satellite", "go_biological_process": "GO:0072307 regulation of metanephric nephron tubule epithelial cell differentiation;GO:0007501 mesodermal cell fate specification;GO:0021633 optic nerve structural organization;GO:0039003 pronephric field specification;GO:0061360 optic chiasma development", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q02962-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTU6-1", "uniprot_id": [ { "id": "P4K2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTU6", "type": "external" } ], "mass": 54022.0, "length": 479, "protein_name": "Phosphatidylinositol 4-kinase type 2-alpha", "gene_name": "PI4K2A", "organism": "Human", "refseq_name": "phosphatidylinositol 4-kinase type 2-alpha", "refseq_ac": [ { "id": "NP_060895", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060895", "type": "external" } ], "gene_names_uniprotkb": "PI4K2A", "gene_names_refseq": "NEDMSB; PI4K2A; PI4KII; PIK42A", "protein_names_uniprotkb": "Phosphatidylinositol 4-kinase type 2-alpha; 2.7.1.67; Phosphatidylinositol 4-kinase type II-alpha", "protein_names_refseq": "phosphatidylinositol 4-kinase type 2-alpha; phosphatidylinositol 4-kinase type II (PI4KII); phosphatidylinositol 4-kinase type II-alpha", "tax_id": 9606, "disease": "neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities (MONDO:MONDO:0958240)", "pathway": " (hsa:55361); (R-HSA-1660499); (R-HSA-1660514); (R-HSA-1660516)", "pathway_count": 4, "publication_count": 179, "publication_id_list": "10101268;10194451;10224048;10419465;10555148;10559940;10567352;10593988;10753883;10764818;10766823;10805725;10806194;10822173;11001876;11084340;11279162;11302699;11349134;11604140;11676921;11706043;11716755;11733541;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;12847286;14516276;14527956;14617813;14659893;14660569;15080793;15107860;15135396;15302935;15464023;15716355;15797027;15840652;16154996;16399794;16443754;16476736;16522682;1655747;16787938;16914545;16979564;17008356;17081983;17245604;17555535;17556371;17651088;18093523;18452278;18524850;18578522;18669648;18707149;18753295;18767875;18950639;19038970;19211563;19369195;19413330;19415658;19651622;19664994;19664995;19668216;19690332;19896968;20068231;20166139;20388919;20534812;21081650;21204784;21406692;21998198;22037487;22535966;22647598;23146885;23186163;23519112;23758345;23818870;24275569;24675427;25168678;25495341;25502872;25869668;25892735;26496610;27846572;27920218;28218747;28467828;28510447;28832583;29242379;29314611;29493099;29632711;29769354;29792687;30410026;30429286;30484775;30564627;30659093;30917996;31020640;31554935;31844290;32157095;32350084;32357974;32387766;32418222;32502341;32938616;32983136;33043033;33298915;33592498;33912179;33936100;33968037;34357683;34433824;34509645;35051231;35154160;35251023;35580925;35634680;35880319;36215666;7608176;7624799;7628435;7761412;8634694;8681945;8723348;8769125;8999962;9094719;9113989;9148941;9211928;9286278;9295334;9367159;9405935;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063;9878262", "class_list": "", "function": "Both integrin alpha3beta1 and PI4KIIalpha co-localized to the trans-Golgi network, where they physically interacted with each other, and PI4KIIalpha specifically associated with integrin alpha3 but not alpha5, [RefSeq, PubMed]; High expression of PI4K2A predicted poor prognosis of colon adenocarcinoma (COAD) and correlated with immunity., [RefSeq, PubMed]; Membrane-bound phosphatidylinositol-4 kinase (PI4-kinase) that catalyzes the phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), a lipid that plays important roles in endocytosis, Golgi function, protein sorting and membrane trafficking and is required for prolonged survival of neurons. Besides, phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P) is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy., [RefSeq, PubMed]; Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]., [RefSeq]; Therapeutic targeting of the PI4K2A/PKR lysosome network is critical for misfolded protein clearance and survival in cancer cells., [RefSeq, PubMed]; These results indicate that GABARAP and PI4K2A interact tightly. Although lipidation of GABARAP is essential for its role in autophagy, here we show that its lipidation is not required for the interaction of GABARAP and PI4K2A., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 24, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DR59;Q9NSG8", "ec_number_list": [ { "id": "2.7.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.67", "type": "external" } ], "go_molecular_function": "GO:0035651 AP-3 adaptor complex binding;GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0004430 1-phosphatidylinositol 4-kinase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0035838 growing cell tip;GO:0000139 Golgi membrane;GO:0005739 mitochondrion;GO:0005768 endosome", "go_biological_process": "GO:0007032 endosome organization;GO:0006661 phosphatidylinositol biosynthetic process;GO:0007030 Golgi organization;GO:0046854 phosphatidylinositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 18.2, "record_id": "Q9BTU6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NW61-1", "uniprot_id": [ { "id": "PKHJ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NW61", "type": "external" } ], "mass": 17551.0, "length": 149, "protein_name": "Pleckstrin homology domain-containing family J member 1", "gene_name": "PLEKHJ1", "organism": "Human", "refseq_name": "pleckstrin homology domain-containing family J member 1 isoform 2", "refseq_ac": [ { "id": "NP_060519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060519", "type": "external" } ], "gene_names_uniprotkb": "PLEKHJ1; GNRPX", "gene_names_refseq": "GNRPX; PLEKHJ1", "protein_names_uniprotkb": "Pleckstrin homology domain-containing family J member 1; Guanine nucleotide-releasing protein x; PH domain-containing family J member 1", "protein_names_refseq": "PH domain-containing family J member 1; guanine nucleotide releasing protein x; pleckstrin homology domain-containing family J member 1 isoform 2; pleckstrin homology domain-containing family J member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55111)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;11602354;17924679;23481700;25418920;26154972;26811146;26929215;26992070;27846572;27920218;28063628;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29632046;29786170;30410026;30429286;31217245;31844290;31848261;32265295;32387766;32488085;32983136;33298915;33592498;33633747;33912179;35051231;36284347", "class_list": "", "function": "Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KUQ9;D6W604", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0055037 recycling endosome;GO:0005802 trans-Golgi network;GO:0030136 clathrin-coated vesicle", "go_biological_process": "GO:0007032 endosome organization;GO:0001881 receptor recycling;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9NW61-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05186-1", "uniprot_id": [ { "id": "PPBT_HUMAN", "url": "https://www.uniprot.org/uniprot/P05186", "type": "external" } ], "mass": 57305.0, "length": 524, "protein_name": "Alkaline phosphatase, tissue-nonspecific isozyme", "gene_name": "ALPL", "organism": "Human", "refseq_name": "alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_000469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000469", "type": "external" } ], "gene_names_uniprotkb": "ALPL", "gene_names_refseq": "ALPL; AP-TNAP; APTNAP; HOPS; HPPA; HPPC; HPPI; HPPO; TNALP; TNAP; TNS-ALP; TNSALP", "protein_names_uniprotkb": "Alkaline phosphatase, tissue-nonspecific isozyme; 3.1.3.1; 3.9.1.1; AP-TNAP; Alkaline phosphatase liver/bone/kidney isozyme; Phosphoamidase; Phosphocreatine phosphatase; TNS-ALP; TNSALP", "protein_names_refseq": "alkaline phosphatase liver/bone/kidney isozyme; alkaline phosphatase, liver/bone/kidney; alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein; liver/bone/kidney-type alkaline phosphatase; phosphoamidase; phosphocreatine phosphatase; tissue non-specific alkaline phosphatase; tissue-nonspecific ALP", "tax_id": 9606, "disease": "adult hypophosphatasia (Disease Ontology:DOID:0110913); infantile hypophosphatasia (Disease Ontology:DOID:0110914); childhood hypophosphatasia (Disease Ontology:DOID:0110915); familial combined hyperlipidemia (Disease Ontology:DOID:13809); hypophosphatasia (Disease Ontology:DOID:14213); arteriosclerosis (Disease Ontology:DOID:2349); uremia (Disease Ontology:DOID:4676); in situ carcinoma (Disease Ontology:DOID:8719); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:249); (R-HSA-163125)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;10094560;10332035;10679946;10690885;10834525;11072085;11237011;11395499;11438998;11479741;11745997;11760847;11834095;11855933;11999978;12162492;12230456;12815606;12920074;1409720;1458595;15135428;15694177;17566972;17975675;19159218;19500388;20049532;21081667;2220817;22266140;23039266;23090970;23688511;23719902;23791648;24190977;2443973;25576301;25775211;25982064;26797772;27862975;28448526;2928120;29391424;29557506;30059200;30083035;31154438;3165380;3174660;32157095;32161166;32938616;32983484;33821301;34105348;3422494;35051231;3532105;35561310;35580925;36010968;36241641;37074911;37277451;37351650;38234425;38505526;3954357;40596516;7833929;8406453;8954059;9452105;9747027;9781036", "class_list": "", "function": "Alkaline phosphatase that metabolizes various phosphate compounds and plays a key role in skeletal mineralization and adaptive thermogenesis (PubMed:12162492, PubMed:23688511, PubMed:25982064). Has broad substrate specificity and can hydrolyze a considerable variety of compounds: however, only a few substrates, such as diphosphate (inorganic pyrophosphate; PPi), pyridoxal 5'-phosphate (PLP) and N-phosphocreatine are natural substrates (PubMed:12162492, PubMed:2220817). Plays an essential role in skeletal and dental mineralization via its ability to hydrolyze extracellular diphosphate, a potent mineralization inhibitor, to phosphate: it thereby promotes hydroxyapatite crystal formation and increases inorganic phosphate concentration (PubMed:23688511, PubMed:25982064). Acts in a non-redundant manner with PHOSPHO1 in skeletal mineralization: while PHOSPHO1 mediates the initiation of hydroxyapatite crystallization in the matrix vesicles (MVs), ALPL/TNAP catalyzes the spread of hydroxyapatite crystallization in the extracellular matrix (By similarity). Also promotes dephosphorylation of osteopontin (SSP1), an inhibitor of hydroxyapatite crystallization in its phosphorylated state; it is however unclear whether ALPL/TNAP mediates SSP1 dephosphorylation via a direct or indirect manner (By similarity). Catalyzes dephosphorylation of PLP to pyridoxal (PL), the transportable form of vitamin B6, in order to provide a sufficient amount of PLP in the brain, an essential cofactor for enzymes catalyzing the synthesis of diverse neurotransmitters (PubMed:20049532, PubMed:2220817). Additionally, also able to mediate ATP degradation in a stepwise manner to adenosine, thereby regulating the availability of ligands for purinergic receptors (By similarity). Also capable of dephosphorylating microbial products, such as lipopolysaccharides (LPS) as well as other phosphorylated small-molecules, such as poly-inosine:cytosine (poly I:C) (PubMed:28448526). Acts as a key regulator of adaptive thermogenesis as part of the futile creatine cycle: localizes to the mitochondria of thermogenic fat cells and acts by mediating hydrolysis of N-phosphocreatine to initiate a futile cycle of creatine dephosphorylation and phosphorylation (By similarity). During the futile creatine cycle, creatine and N-phosphocreatine are in a futile cycle, which dissipates the high energy charge of N-phosphocreatine as heat without performing any mechanical or chemical work (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Association between changes in serum alkaline phosphatase levels and radiographic progression in ankylosing spondylitis. Publication Status: Online-Only, [RefSeq, PubMed]; Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant., [RefSeq, PubMed]; Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 5, "mined_n_glycosites": 5, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 39, "disease_count": 9, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A1A4E7;B2RMP8;B7Z387;B7Z4Y6;O75090;Q2TAI7;Q59EJ7;Q5BKZ5;Q5VTG5;Q6NZI8;Q8WU32;Q9UBK0", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.4.11.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.9", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.5.1.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.92", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "3.4.17.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.12", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.1.3.91", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.91", "type": "external" }, { "id": "3.1.3.89", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.89", "type": "external" }, { "id": "3.1.3.99", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.99", "type": "external" }, { "id": "3.1.3.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.35", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.1.4.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.50", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.4.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.1", "type": "external" }, { "id": "3.6.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.16", "type": "external" }, { "id": "3.6.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.53", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" }, { "id": "3.1.3.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.75", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0016462 pyrophosphatase activity;GO:0033883 pyridoxal phosphatase activity;GO:0052732 phosphoethanolamine phosphatase activity;GO:0004035 alkaline phosphatase activity;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005758 mitochondrial intermembrane space;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:1904383 response to sodium phosphate;GO:0032496 response to lipopolysaccharide;GO:0051384 response to glucocorticoid;GO:0001501 skeletal system development;GO:0032868 response to insulin", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "P05186-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61006-1", "uniprot_id": [ { "id": "RAB8A_HUMAN", "url": "https://www.uniprot.org/uniprot/P61006", "type": "external" } ], "mass": 23668.0, "length": 207, "protein_name": "Ras-related protein Rab-8A", "gene_name": "RAB8A", "organism": "Human", "refseq_name": "ras-related protein Rab-8A", "refseq_ac": [ { "id": "NP_005361", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005361", "type": "external" } ], "gene_names_uniprotkb": "RAB8A; MEL; RAB8", "gene_names_refseq": "MEL; RAB8A; RAB8", "protein_names_uniprotkb": "Ras-related protein Rab-8A; 3.6.5.2; Oncogene c-mel", "protein_names_refseq": "mel transforming oncogene (RAB8 homolog); mel transforming oncogene (derived from cell line NK14)- RAB8 homolog; mel transforming oncogene (derived from cell line NK14); oncogene c-mel; ras-associated protein RAB8; ras-related protein Rab-8A", "tax_id": 9606, "disease": "Smith-McCort dysplasia (Disease Ontology:DOID:0060247); Dyggve-Melchior-Clausen disease (Disease Ontology:DOID:0111167)", "pathway": " (hsa:4218); (R-HSA-1445148); (R-HSA-2565942); (R-HSA-5620912); (R-HSA-5620916); (R-HSA-8854214); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 8, "publication_count": 394, "publication_id_list": "10202141;10818110;10990452;11038176;11141079;11179213;11389151;11447212;11516400;11675392;11689439;11703925;11746448;11784320;11917121;12058051;12207013;12221131;12244319;12364329;12364337;12427552;12475894;12684051;12944476;12972505;13678582;15096524;15138286;15158452;1516130;15247254;15388334;15528189;15561770;15692570;15728366;15837803;15878329;15914536;15919790;15958533;15971998;16038802;16055087;16136078;16155582;16207721;16357211;16373702;16395330;16401880;16410077;16431365;1648736;16525024;16525121;16537653;16571673;16641372;16754960;16782012;16880201;16880209;16890155;16950109;17007872;17030804;17043139;17081983;17114793;17132146;17189207;17208202;17239822;17287728;17369524;17411337;17488286;17562788;17574030;17628206;17646400;17658474;17671165;17678623;17719545;17901050;17956946;17995453;18037885;18076383;18088087;18094055;18199687;18319245;18329369;18354496;18367545;18378770;1845915;18466115;18477460;18477474;18521620;18532927;18559336;18566290;18585354;18615013;18664496;18669648;18685082;18691976;18694559;18701652;18779367;18801063;18804435;1886711;1900457;19004860;19013499;19017632;19081074;19109890;19153612;19252894;19297529;19345684;19403694;19413330;19454479;19490898;19603039;19620288;19651622;19656848;19664995;19725050;19729655;19745841;19864458;19940019;20008558;20068231;20083215;20095038;20116244;20154091;20159109;20159556;20230748;20305638;20308558;20363736;20399632;20404108;20434987;20558667;20592283;20631154;20643351;20701589;20797862;20837646;20851765;20890297;20937701;21041651;2115402;21183348;21187289;21216617;21255211;21273506;21282656;21330364;21378754;21383079;21406692;21421921;21422230;21445324;21454505;21454690;21458671;21532587;21548880;21550243;21554507;21565611;21586568;21620453;21683469;21706022;21718402;21725307;21775626;21776405;21792235;21844891;21907143;21951725;22013193;22065758;22072793;22159412;22171327;22179047;22219378;22365832;22389062;22420621;22433857;22511774;22543976;22581368;22595670;22613832;22622570;22641346;22645359;22648168;22653444;22694141;22705394;22762500;22795129;22854040;22908308;22983554;23019362;23084991;23091056;23141531;23141541;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23253480;23263280;23295650;23333653;23348840;23351085;23351793;23357852;23378591;23400999;23420520;23444368;23478338;23481700;23530209;23562278;23567335;23645161;23678941;23684622;23713133;23747070;23769972;23789104;23839779;23945166;24023390;24053599;24089205;24231678;24275569;24296415;24469809;24644286;24694596;24715725;24719330;24891604;24917561;24967941;24982133;25047611;25074980;25313408;25341920;25343031;25472813;25502872;2550440;25576301;25648148;25713415;25860027;25925668;26055712;26177209;26209634;26245486;26434594;26471730;26538022;26824392;26925400;26936971;26969162;26992070;27041585;27044746;27103069;27103185;27246931;27329675;27552051;27846572;27920218;28228285;28510447;28832583;28834231;28904123;29125462;29242379;29357897;29437277;29482628;29493099;29774024;30209220;30398148;30709905;30833945;31020640;31361120;31663853;31844290;31998317;32157095;32227113;32344433;32350084;32357974;32897882;32938616;32983136;33043033;33298915;33402344;33592498;33633747;33717175;33936100;33968037;34019948;34171305;34433824;34932366;35051231;35154160;35251023;35580925;36907439;37582861;38135900;38307024;7688123;7911226;7957092;7991565;8094051;8144603;8164745;8294494;8349690;8375503;8408203;8513495;8522602;8631982;8662963;8664345;8836150;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780;9819391", "class_list": "", "function": "Klotho-beta attenuates Rab8a-mediated exosome regulation and promotes prostate cancer progression., [RefSeq, PubMed]; Rab8 and TNPO1 are ciliary transport adaptors for GTPase Arl13b by interacting with its RVEP motif containing ciliary targeting sequence., [RefSeq, PubMed]; Targeting Rab-RILPL interactions as a strategy to downregulate pathogenic LRRK2 in Parkinson's disease., [RefSeq, PubMed]; The LRRK2 kinase substrates RAB8a and RAB10 contribute complementary but distinct disease-relevant phenotypes in human neurons., [RefSeq, PubMed]; The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrable. This oncogene is located 800 kb distal to MY09B on chromosome 19p13.1. [provided by RefSeq, Jul 2008]., [RefSeq]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB8A is involved in polarized vesicular trafficking and neurotransmitter release. Together with RAB11A, RAB3IP, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis (PubMed:20890297). Regulates the compacted morphology of the Golgi (PubMed:26209634). Together with MYO5B and RAB11A participates in epithelial cell polarization (PubMed:21282656). Also involved in membrane trafficking to the cilium and ciliogenesis (PubMed:21844891, PubMed:30398148, PubMed:20631154). Together with MICALL2, may also regulate adherens junction assembly (By similarity). May play a role in insulin-induced transport to the plasma membrane of the glucose transporter GLUT4 and therefore play a role in glucose homeostasis (By similarity). Involved in autophagy (PubMed:27103069). Participates in the export of a subset of neosynthesized proteins through a Rab8-Rab10-Rab11-dependent endososomal export route (PubMed:32344433). Targeted to and stabilized on stressed lysosomes through LRRK2 phosphorylation (PubMed:30209220). Suppresses stress-induced lysosomal enlargement through EHBP1 and EHNP1L1 effector proteins (PubMed:30209220)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DEK7;P24407;Q6FHV5", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.4.11.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.3", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0031267 small GTPase binding;GO:0019003 GDP binding;GO:0031489 myosin V binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0048210 Golgi vesicle fusion to target membrane;GO:0051223 regulation of protein transport;GO:0098887 neurotransmitter receptor transport, endosome to postsynaptic membrane;GO:0098969 neurotransmitter receptor transport to postsynaptic membrane;GO:0007409 axonogenesis", "synthesized_glycan_count": 0, "hit_score": 39.7, "record_id": "P61006-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61026-1", "uniprot_id": [ { "id": "RAB10_HUMAN", "url": "https://www.uniprot.org/uniprot/P61026", "type": "external" } ], "mass": 22541.0, "length": 200, "protein_name": "Ras-related protein Rab-10", "gene_name": "RAB10", "organism": "Human", "refseq_name": "ras-related protein Rab-10", "refseq_ac": [ { "id": "NP_057215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057215", "type": "external" } ], "gene_names_uniprotkb": "RAB10", "gene_names_refseq": "RAB10", "protein_names_uniprotkb": "Ras-related protein Rab-10; 3.6.5.2", "protein_names_refseq": "GTP-binding protein RAB10; ras-related GTP-binding protein; ras-related protein Rab-10", "tax_id": 9606, "disease": "Smith-McCort dysplasia (Disease Ontology:DOID:0060247); Dyggve-Melchior-Clausen disease (Disease Ontology:DOID:0111167)", "pathway": " (hsa:10890); (R-HSA-1445148); (R-HSA-6798695); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 5, "publication_count": 308, "publication_id_list": "10818110;10931946;10990452;11038176;11141079;11179213;11230166;11389151;11447212;11516400;11675392;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12450215;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15919790;15958533;15971998;16207721;16373702;16401880;16410077;1648736;16525024;16525121;16571673;16641372;16754960;16880201;16880209;16950109;17043139;17114793;17132146;17189207;17208202;17239822;17287728;17369524;17411337;17488286;17562788;17574030;17646400;17671165;17678623;17995453;18076383;18094055;18354496;18367545;1845915;18477474;18532927;18559336;18578522;18585354;18664496;18701652;18779367;18804435;1900457;19013499;19109890;19252894;19345684;19403694;19490898;19570034;19603039;19608861;19620288;19656848;19725050;19729655;19745841;20008558;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20576682;20592283;20631154;20701589;20797862;20837646;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21248164;21273506;21330364;21421921;21445324;21454505;21454690;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21907143;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22645359;22648168;22653444;22694141;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23645161;23650620;23678941;23684622;23713133;23839779;24023390;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25418920;25472813;25502872;2550440;25576301;25648148;25713415;25925668;26055712;26154972;26177209;26245486;26434594;26538022;26824392;26925400;26936971;26969162;26992070;27041585;27044746;27103185;27246931;27329675;27452731;27552051;27862975;28218747;28228285;28467828;28832583;28860483;28904123;29125462;29127255;29212815;29242379;29305429;29437277;29493099;29557506;29562525;29786170;30209220;30315122;30398148;30410026;30484775;30635421;30779550;31020640;31092671;31527116;31540829;31663853;31844290;32157095;32344433;32350084;32897882;32938616;32983136;33043033;33123756;33177079;33214551;33592498;33633747;33691108;33936100;33968037;34019948;34357683;34433824;34725712;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37218374;37938771;38127736;38247817;38307024;38358348;38364252;38665916;38949985;39990658;7688123;7911226;7957092;7991565;8094051;8144603;8164745;8349690;8375503;8408203;8513495;8522602;8631982;8662963;8664345;8692836;8836150;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "(Microbial infection) Upon Legionella pneumophila infection promotes endoplasmic reticulum recruitment and bacterial replication. Plays a role in remodeling the Legionella-containing vacuole (LCV) into an endoplasmic reticulum-like vacuole., [UniProtKB, PubMed]; Coronavirus M Protein Trafficking in Epithelial Cells Utilizes a Myosin Vb Splice Variant and Rab10. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-557 inhibits hepatocellular carcinoma progression through Wnt/beta-catenin signaling pathway by targeting RAB10., [RefSeq, PubMed]; MicroRNA-106b-5p and Rab10: Potential Markers of Acute Myeloid Leukemia., [RefSeq, PubMed]; RAB10 belongs to the RAS (see HRAS; MIM 190020) superfamily of small GTPases. RAB proteins localize to exocytic and endocytic compartments and regulate intracellular vesicle trafficking (Bao et al., 1998 [PubMed 9918381]).[supplied by OMIM, Mar 2009]., [RefSeq]; The LRRK2 kinase substrates RAB8a and RAB10 contribute complementary but distinct disease-relevant phenotypes in human neurons., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:21248164). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:21248164). RAB10 is mainly involved in the biosynthetic transport of proteins from the Golgi to the plasma membrane (PubMed:21248164). Regulates, for instance, SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane (By similarity). In parallel, RAB10 regulates the transport of TLR4, a toll-like receptor to the plasma membrane and therefore may be important for innate immune response (By similarity). Also plays a specific role in asymmetric protein transport to the plasma membrane (PubMed:16641372). In neurons, involved in axonogenesis through regulation of vesicular membrane trafficking toward the axonal plasma membrane (By similarity). In epithelial cells, regulates transport from the Golgi to the basolateral membrane (PubMed:16641372). May play a role in the basolateral recycling pathway and in phagosome maturation (By similarity). May play a role in endoplasmic reticulum dynamics and morphology controlling tubulation along microtubules and tubules fusion (PubMed:23263280). Together with LRRK2, RAB8A, and RILPL1, regulates ciliogenesis (PubMed:30398148). When phosphorylated by LRRK2 on Thr-73, binds RILPL1 and inhibits ciliogenesis (PubMed:30398148). Participates in the export of a subset of neosynthesized proteins through a Rab8-Rab10-Rab11-dependent endososomal export route (PubMed:32344433). Targeted to and stabilized on stressed lysosomes through LRRK2 phosphorylation where it promotes the extracellular release of lysosomal content through EHBP1 and EHNP1L1 effector proteins (PubMed:30209220)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; VPS13C regulates phospho-Rab10-mediated lysosomal function in human dopaminergic neurons., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6W538;O88386;Q6IA52;Q9D7X6;Q9H0T3", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.4.24.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.11", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.4.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.2", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.4.11.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.3", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0005525 GTP binding;GO:0098641 cadherin binding involved in cell-cell adhesion;GO:0019003 GDP binding;GO:0031489 myosin V binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0099503 secretory vesicle;GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0071786 endoplasmic reticulum tubular network organization;GO:0097051 establishment of protein localization to endoplasmic reticulum membrane;GO:0007409 axonogenesis;GO:0032869 cellular response to insulin stimulus;GO:0045055 regulated exocytosis", "synthesized_glycan_count": 0, "hit_score": 31.1, "record_id": "P61026-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41220-1", "uniprot_id": [ { "id": "RGS2_HUMAN", "url": "https://www.uniprot.org/uniprot/P41220", "type": "external" } ], "mass": 24382.0, "length": 211, "protein_name": "Regulator of G protein signaling 2", "gene_name": "RGS2", "organism": "Human", "refseq_name": "regulator of G-protein signaling 2", "refseq_ac": [ { "id": "NP_002914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002914", "type": "external" } ], "gene_names_uniprotkb": "RGS2; G0S8; GIG31", "gene_names_refseq": "G0S8; RGS2", "protein_names_uniprotkb": "Regulator of G protein signaling 2; Cell growth-inhibiting gene 31 protein; G0/G1 switch regulatory protein 8; RGS2", "protein_names_refseq": "G0 to G1 switch regulatory 8, 24kD; G0/G1 switch regulatory protein 8; cell growth-inhibiting gene 31 protein; cell growth-inhibiting protein 31; regulator of G-protein signaling 2, 24kDa; regulator of G-protein signaling 2", "tax_id": 9606, "disease": "glomerulosclerosis (Disease Ontology:DOID:0050851); hypertension (Disease Ontology:DOID:10763); opioid abuse (Disease Ontology:DOID:11206); bladder disease (Disease Ontology:DOID:365); liver cirrhosis (Disease Ontology:DOID:5082); female stress incontinence (Disease Ontology:DOID:724)", "pathway": " (hsa:5997); (R-HSA-416476)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10191087;10567430;10727532;10861009;11015615;11063746;11278586;11742120;11753430;12120503;14608379;15951850;16003176;16182515;16268778;16339447;16754659;16923326;17901199;18434541;18515384;18577758;18936096;1905813;19478087;19736320;23783831;24714562;25576301;25892735;25970626;26154972;26758079;26992070;27535533;27846572;27862975;28228285;2841328;28784619;28832583;28834231;28904123;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30833945;3086311;31844290;31848261;32157095;32387766;32938616;32983136;33008920;33298915;33717175;33912179;33936100;33968037;34171305;34932366;35051231;35430356;35561310;35580925;36098468;36241641;36284347;36443250;36591293;36653442;7643615;7937899;8179820;8664309;9305846;9770463", "class_list": "", "function": "Fatty acid metabolism is related to the immune microenvironment changes of gastric cancer and RGS2 is a new tumor biomarker. Publication Status: Online-Only, [RefSeq, PubMed]; Gene expression meta-analysis in patients with schizophrenia reveals up-regulation of RGS2 and RGS16 in Brodmann Area 10., [RefSeq, PubMed]; MicroRNA-494-3p facilitates the progression of bladder cancer by mediating the KLF9/RGS2 axis., [RefSeq, PubMed]; RGS2 promotes estradiol biosynthesis by trophoblasts during human pregnancy., [RefSeq, PubMed]; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:11063746, PubMed:19478087). It is involved in the negative regulation of the angiotensin-activated signaling pathway (PubMed:28784619). Plays a role in the regulation of blood pressure in response to signaling via G protein-coupled receptors and GNAQ. Plays a role in regulating the constriction and relaxation of vascular smooth muscle (By similarity). Binds EIF2B5 and blocks its activity, thereby inhibiting the translation of mRNA into protein (PubMed:19736320)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq, Aug 2009]., [RefSeq]; Regulator of G protein signaling 2 is inhibited by hypoxia-inducible factor-1alpha/E1A binding protein P300 complex upon hypoxia in human preeclampsia., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 26, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6I9U5", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0005516 calmodulin binding;GO:0001965 G-protein alpha-subunit binding;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0061052 negative regulation of cell growth involved in cardiac muscle cell development;GO:0071877 regulation of adenylate cyclase-inhibiting adrenergic receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007283 spermatogenesis;GO:0010976 positive regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "P41220-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15027-1", "uniprot_id": [ { "id": "SC16A_HUMAN", "url": "https://www.uniprot.org/uniprot/O15027", "type": "external" } ], "mass": 251894.0, "length": 2357, "protein_name": "Protein transport protein Sec16A", "gene_name": "SEC16A", "organism": "Human", "refseq_name": "protein transport protein Sec16A isoform 2", "refseq_ac": [ { "id": "NP_001263347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263347", "type": "external" } ], "gene_names_uniprotkb": "SEC16A; KIAA0310; SEC16L; SEC16", "gene_names_refseq": "KIAA0310; SEC16A; SEC16L; p250", "protein_names_uniprotkb": "Protein transport protein Sec16A; SEC16 homolog A; p250", "protein_names_refseq": "protein SEC16 homolog A; protein transport protein Sec16A isoform 2; protein transport protein Sec16A", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9919); (R-HSA-204005)", "pathway_count": 2, "publication_count": 185, "publication_id_list": "10445031;10559959;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11927603;12070132;12235121;15037235;16303754;16495487;16624868;16912714;16964243;17005010;17038314;17081983;17192411;17287728;17316621;17322306;17428803;17525332;17562788;17684057;17924679;18212344;18318008;18452278;18491316;18669648;18691976;18767875;18843296;19164740;19369195;19413330;19415658;19638414;19651622;19656848;19664994;19664995;19690332;19691289;19901323;20058876;20068231;20166139;20545907;20679433;20966969;21045114;21406692;21478858;21532587;21689688;21768384;22013193;22157747;22355596;22675024;23186163;23301498;23378591;23479643;23481700;23698585;23864707;24119662;24275569;24917561;25201882;25202031;25406594;25492864;25586378;25619252;25645385;27397612;27655845;28067262;28228285;28314751;28442536;29187380;29237092;29300766;29351928;29493099;29557506;30315122;30397120;30410026;30524438;30573663;30620550;30779550;30833945;31020640;31092671;31154438;31217245;31222486;31373491;31530632;31637018;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33123756;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34229054;34357683;34405274;34433824;34509645;34846842;34932366;35051231;35132862;35138101;35154160;35254053;35289036;35318648;35561310;35580925;36010968;36241641;36284347;36581221;37340703;37541260;37938771;38253038;38665916;39119875;39302247;39531497;39534244;40136647;41350704;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9647643", "class_list": "", "function": "Acts as a molecular scaffold that plays a key role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining an ERES. Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:17005010, PubMed:17192411, PubMed:17428803, PubMed:21768384, PubMed:22355596). Mediates the recruitment of MIA3/TANGO to ERES (PubMed:28442536). Regulates both conventional (ER/Golgi-dependent) and GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell membrane (PubMed:28067262). Positively regulates the protein stability of E3 ubiquitin-protein ligases RNF152 and RNF183 and the ER localization of RNF183 (PubMed:29300766). Acts as a RAB10 effector in the regulation of insulin-induced SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the cell membrane in adipocytes (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Mammalian cells contain two distinct Sec16 homologues: a large protein Sec16L of 2154 aa and a smaller protein Sec16S of 1060 aa., [RefSeq, PubMed]; Mammalian endoplasmic reticulum exit sites are organized by TANGO1 acting as a scaffold, in cooperation with Sec16 for efficient secretion., [RefSeq, PubMed]; Nbeal2 interacts with Dock7, Sec16a, and Vac14., [RefSeq, PubMed]; Plays a role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Results suggest that KIAA0310p, a mammalian homologue of yeast Sec16, builds up endoplasmic reticulum (ER) exit sites in cooperation with p125 and plays a role in membrane traffic from the ER., [RefSeq, PubMed]; SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER Stress., [RefSeq, PubMed]; Sar1-GTP-dependent assembly of Sec16 on the endoplasmic reticulum(ER) membrane forms an organized scaffold defining ER exit sites, [RefSeq, PubMed]; Sec16A also stabilized the interacting ubiquitin ligase RNF152, which localizes to the lysosome and has structural similarity with RNF183 Publication Status: Online-Only, [RefSeq, PubMed]; Sec16A remains associated with endoplasmic reticulum exit sites throughout mitosis., [RefSeq, PubMed]; These data are consistent with a model where Sec16 acts as a platform for COPII assembly at endoplasmic reticulum exit sites., [RefSeq, PubMed]; This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 29, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 29, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 29, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 65, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 98, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 33, "binding_glycan_count": 0, "secondary_ac_list": "A1YCA4;J3KNL6;Q4G0D7;Q5SXP0;Q5SXP1;Q8N347;Q96HP1", "ec_number_list": [], "go_molecular_function": "GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0021762 substantia nigra development;GO:0050821 protein stabilization;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0034976 response to endoplasmic reticulum stress", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "O15027-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BR1-1", "uniprot_id": [ { "id": "SGK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BR1", "type": "external" } ], "mass": 57108.0, "length": 496, "protein_name": "Serine/threonine-protein kinase Sgk3", "gene_name": "SGK3", "organism": "Human", "refseq_name": "serine/threonine-protein kinase Sgk3 isoform 1", "refseq_ac": [ { "id": "NP_001028750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028750", "type": "external" } ], "gene_names_uniprotkb": "SGK3; CISK; SGKL", "gene_names_refseq": "CISK; SGK2; SGK3; SGKL", "protein_names_uniprotkb": "Serine/threonine-protein kinase Sgk3; 2.7.11.1; Cytokine-independent survival kinase; Serum/glucocorticoid-regulated kinase 3; Serum/glucocorticoid-regulated kinase-like", "protein_names_refseq": "cytokine-independent survival kinase; serine/threonine-protein kinase Sgk3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100533105); (hsa:23678); (R-HSA-2672351)", "pathway_count": 3, "publication_count": 158, "publication_id_list": "10548550;10564087;10585774;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12054501;12393854;12397388;12590200;12632189;12634932;12650886;12907679;12911626;1379744;14584882;14604990;14634667;14706641;15010458;15040001;15044175;15044642;15147738;15318163;15319523;15496163;15504734;15505377;15737648;15845389;15916532;15919655;16036218;16219661;16460280;16790420;16813530;16849430;16850186;16888620;16959974;17167223;17344846;17381423;17448995;17699613;17881003;18000046;18005662;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19293151;19307298;19380724;19387438;19620632;19808995;19953639;20388639;20466723;20511718;20525693;20538786;20919962;21040849;21084382;21527911;21865597;21984732;22002868;22773952;22946059;2298749;23112050;2321095;23616951;25177796;2536303;25576301;25645385;26359375;26375851;26562072;26573229;27481935;28071645;28154142;28514659;28790369;28904123;29393594;29508533;29557506;29786170;29940988;30429286;30524438;30779550;31154438;31217245;32157095;32161166;32387766;32502341;32644852;32897882;32926495;32938616;32983136;33392160;33618712;33691108;33936100;33968037;34087483;34171305;34185709;34509645;34740363;35051231;36241641;36269185;37398883;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Circ_0043532 regulates miR-182/SGK3 axis to promote granulosa cell progression in polycystic ovary syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; MicroRNA-92a-3p Regulates Retinal Angiogenesis by Targeting SGK3 in Vascular Endothelial Cells., [RefSeq, PubMed]; Phosphoinositide-dependent Kinase-1 (PDPK1) regulates serum/glucocorticoid-regulated Kinase 3 (SGK3) for prostate cancer cell survival. Erratum:[J Cell Mol Med. 2020 Dec;24(23):14122-14124. doi: 10.1111/jcmm.16112. PMID: 33615700], [RefSeq, PubMed]; Risk of Nasopharyngeal Carcinoma Associated with Single Nucleotide Polymorphisms in the MicroRNA Binding Site of SGK3., [RefSeq, PubMed]; SGK3 overexpression correlates with a poor prognosis in endoscopically resected superficial esophageal squamous cell neoplasia: A long-term study., [RefSeq, PubMed]; Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, proliferation, survival and migration. Up-regulates Na(+) channels: SCNN1A/ENAC and SCN5A, K(+) channels: KCNA3/KV1.3, KCNE1, KCNQ1 and KCNH2/HERG, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channel: BSND, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, amino acid transporters: SLC1A5/ASCT2 and SLC6A19, glutamate transporters: SLC1A3/EAAT1, SLC1A6/EAAT4 and SLC1A7/EAAT5, glutamate receptors: GRIA1/GLUR1 and GRIK2/GLUR6, Na(+)/H(+) exchanger: SLC9A3/NHE3, and the Na(+)/K(+) ATPase. Plays a role in the regulation of renal tubular phosphate transport and bone density. Phosphorylates NEDD4L and GSK3B. Positively regulates ER transcription activity through phosphorylation of FLII. Negatively regulates the function of ITCH/AIP4 via its phosphorylation and thereby prevents CXCR4 from being efficiently sorted to lysosomes., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene is a member of the Ser/Thr protein kinase family and encodes a phosphoprotein with a PX (phox homology) domain. The protein phosphorylates several target proteins and has a role in neutral amino acid transport and activation of potassium and chloride channels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5W3;B3KQC2;Q9P1Q7;Q9UKG5", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0005246 calcium channel regulator activity;GO:0015459 potassium channel regulator activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0055037 recycling endosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0042127 regulation of cell population proliferation;GO:0001558 regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "Q96BR1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PV0-1", "uniprot_id": [ { "id": "SYGP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PV0", "type": "external" } ], "mass": 148284.0, "length": 1343, "protein_name": "Ras/Rap GTPase-activating protein SynGAP", "gene_name": "SYNGAP1", "organism": "Human", "refseq_name": "ras/Rap GTPase-activating protein SynGAP isoform 2", "refseq_ac": [ { "id": "NP_001123538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123538", "type": "external" } ], "gene_names_uniprotkb": "SYNGAP1; KIAA1938", "gene_names_refseq": "MRD5; RASA5; SYNGAP1; SYNGAP", "protein_names_uniprotkb": "Ras/Rap GTPase-activating protein SynGAP; Neuronal RasGAP; Synaptic Ras GTPase-activating protein 1; Synaptic Ras-GAP 1", "protein_names_refseq": "Ras GTPase-activating protein SynGAP; Ras/Rap GTPase-activating protein 1; neuronal RasGAP; ras/Rap GTPase-activating protein SynGAP isoform 2; ras/Rap GTPase-activating protein SynGAP; synaptic Ras GTPase activating protein 1 homolog; synaptic Ras GTPase activating protein, 135kDa", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal dominant intellectual developmental disorder 5 (Disease Ontology:DOID:0070035); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:8831); (R-HSA-5658442)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "11237011;11493923;12600938;12646235;12787671;14970204;15312654;15358237;15683364;1570011;16478641;19196676;19573811;21076407;2121370;21237447;22751498;22802525;23161826;23443682;23661552;23708187;24814062;27864847;28657654;28832583;29242379;29508533;29557506;29632711;31154438;31844290;32157095;32161166;32387766;32502341;32938616;33298915;33392160;33592498;33968037;34509645;35051231;35580925;35624196;35637289;38563110;38657965;38698724;39148034;8563751;9219684;9302992", "class_list": "", "function": "Behavioural and neurodevelopmental characteristics of SYNGAP1. Publication Status: Online-Only, [RefSeq, PubMed]; De novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively., [RefSeq, PubMed]; De novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYNGAP1 result in a loss of its function, causing intellectual disability, autism, and a specific form of epilepsy., [RefSeq, PubMed]; Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits (By similarity)., [UniProtKB]; SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights., [RefSeq, PubMed]; The Behavioral Profile of SYNGAP1-Related Intellectual Disability., [RefSeq, PubMed]; This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]., [RefSeq]; Visual social attention in SYNGAP1-related intellectual disability., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 20, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 33, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "A2AB17;A2BEL6;A2BEL7;A8MQC4;Q8TCS2;Q9UGE2", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0014069 postsynaptic density;GO:0016020 membrane;GO:0043198 dendritic shaft", "go_biological_process": "GO:0046580 negative regulation of Ras protein signal transduction;GO:0048167 regulation of synaptic plasticity;GO:1902531 regulation of intracellular signal transduction;GO:0098880 maintenance of postsynaptic specialization structure", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q96PV0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UMW8-1", "uniprot_id": [ { "id": "UBP18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UMW8", "type": "external" } ], "mass": 43011.0, "length": 372, "protein_name": "Ubl carboxyl-terminal hydrolase 18", "gene_name": "USP18", "organism": "Human", "refseq_name": "ubl carboxyl-terminal hydrolase 18", "refseq_ac": [ { "id": "NP_059110", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059110", "type": "external" } ], "gene_names_uniprotkb": "USP18; ISG43", "gene_names_refseq": "ISG43; PTORCH2; UBP43; USP18", "protein_names_uniprotkb": "Ubl carboxyl-terminal hydrolase 18; 3.4.19.12; 43 kDa ISG15-specific protease; ISG15-specific-processing protease; Ubl thioesterase 18; hUBP43", "protein_names_refseq": "43 kDa ISG15-specific protease; ISG15-specific-processing protease; ubiquitin specific protease 18; ubl carboxyl-terminal hydrolase 18; ubl thioesterase 18; ubl thiolesterase 18", "tax_id": 9606, "disease": "pseudo-TORCH syndrome 2 (MONDO:MONDO:0018828)", "pathway": " (hsa:11274); (R-HSA-1169408); (R-HSA-445989); (R-HSA-5689880); (R-HSA-912694); (R-HSA-9758274)", "pathway_count": 6, "publication_count": 162, "publication_id_list": "10022928;10444327;10723127;10777664;10982817;11095724;11112487;11157743;11230166;11237011;11313150;11566882;11694501;11788588;11923872;12525615;12582176;12917689;12917691;14661020;15053880;15131269;15145317;15389287;15485925;15702989;15916963;16009940;16056267;16112642;16122702;16139798;16214042;16352599;16407192;16428300;16699525;16710296;16715065;16775314;16815975;16872604;16901786;16914094;16964248;17047224;17289916;17290220;17376915;17443180;17728323;17873522;17980597;17981138;18172164;18287095;18305167;18462684;18467330;18477386;18508557;18583345;18632802;18636086;19015242;19073728;19125153;19135894;19188362;19270716;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20133869;20219937;20228808;20308324;20368735;20385878;20434986;20501646;21239494;21362556;21571647;21596315;21659512;21703539;21849505;21962518;22029577;22085928;22128162;22170061;22216260;22424782;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25418920;25576301;25578727;25880248;25892735;26154972;26240016;26375851;26620909;26811146;26992070;27325888;27426725;27701768;27801882;27920218;28165510;28228285;28855257;28904123;29242379;29493099;30315122;30410026;30484775;31826938;31844290;32157095;32502341;32897882;32938616;32983136;33654074;33691108;33912179;34357683;34561969;34932366;35051231;35154160;35318648;36010968;37442266;37506491;37625543;38691302;39424095;7559393;7578059;8943354;9525617;9865693", "class_list": "", "function": "Genome-wide DNA methylation analysis implicates enrichment of interferon pathway in African American patients with Systemic Lupus Erythematosus and European Americans with lupus nephritis., [RefSeq, PubMed]; Has enzymatic activity similar to isoform 1 and interferes with type I interferon signaling. Major deISGylation enzyme for nuclear proteins (PubMed:22170061)., [UniProtKB, PubMed]; ISG15-USP18 Dysregulation by Oxidative Stress Promotes IFN-gamma Secretion from CD8+ T Cells in Vitiligo., [RefSeq, PubMed]; Interferon-induced ISG15-specific protease that plays a crucial role for maintaining a proper balance of ISG15-conjugated proteins in cells (PubMed:11788588). Regulates protein ISGylation by efficiently cleaving ISG15 conjugates linked via isopeptide bonds. Regulates T-cell activation and T-helper 17 (Th17) cell differentiation by deubiquitinating TAK1, likely to keep TAK1-TAB complexes in steady conditions (PubMed:23825189). In turn, restricts activation of NF-kappa-B, NFAT, and JNK as well as expression of IL2 in T-cells after TCR activation (PubMed:23825189). Acts as a molecular adapter with USP20 to promote innate antiviral response through deubiquitinating STING1 (PubMed:27801882). Involved also in the negative regulation of the inflammatory response triggered by type I interferon (PubMed:27325888, PubMed:28165510). Upon recruitment by STAT2 to the type I interferon receptor subunit IFNAR2 interferes with the assembly of the ternary interferon-IFNAR1-IFNAR2 complex and acts as a negative regulator of the type I interferon signaling pathway (PubMed:28165510)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011]., [RefSeq]; Tumor-promoting action of ubiquitin protease 43 in gastric cancer progression through deubiquitination and stabilization of stress-inducible phosphoprotein 1., [RefSeq, PubMed]; USP18 Curbs the Progression of Metabolic Hypertension by Suppressing JAK/STAT Pathway., [RefSeq, PubMed]; USP18 promotes the proliferation, invasion, and migration of head and neck squamous cell carcinoma by deubiquitinating PLK1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53Y90;Q6IAD9;Q9NY71", "ec_number_list": [ { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0004843 cysteine-type deubiquitinase activity;GO:0019785 ISG15-specific peptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0050727 regulation of inflammatory response;GO:0035634 response to stilbenoid", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "Q9UMW8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42166-1", "uniprot_id": [ { "id": "LAP2A_HUMAN", "url": "https://www.uniprot.org/uniprot/P42166", "type": "external" } ], "mass": 75492.0, "length": 694, "protein_name": "Lamina-associated polypeptide 2, isoform alpha", "gene_name": "TMPO", "organism": "Human", "refseq_name": "thymopoietin isoform alpha", "refseq_ac": [ { "id": "NP_003267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003267", "type": "external" } ], "gene_names_uniprotkb": "TMPO; LAP2", "gene_names_refseq": "CMD1T; LAP2; LEMD4; PRO0868; TMPO; TP", "protein_names_uniprotkb": "Lamina-associated polypeptide 2, isoform alpha; Splenin; TP alpha; TP5; TPRP isoform alpha; Thymopoietin isoform alpha; Thymopoietin-related peptide isoform alpha", "protein_names_refseq": "LEM domain containing 4; lamina-associated polypeptide 2; thymopoietin isoform alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:7112); (R-HSA-8980692); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013423); (R-HSA-9035034)", "pathway_count": 11, "publication_count": 532, "publication_id_list": 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"class_list": "", "function": "LncRNA TMPO-AS1 Aggravates the Development of Hepatocellular Carcinoma via miR-429/GOT1 Axis., [RefSeq, PubMed]; LncRNA TMPO-AS1 promotes esophageal squamous cell carcinoma progression by forming biomolecular condensates with FUS and p300 to regulate TMPO transcription., [RefSeq, PubMed]; May be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly. Plays an important role, together with LMNA, in the nuclear anchorage of RB1., [UniProtKB]; May help direct the assembly of the nuclear lamina and thereby help maintain the structural organization of the nuclear envelope. Possible receptor for attachment of lamin filaments to the inner nuclear membrane. May be involved in the control of initiation of DNA replication through its interaction with NAKAP95., [UniProtKB]; TMPO-AS1 contributes to lung carcinogenesis, which may be partially through upregulation TMPO., [RefSeq, PubMed]; TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide., [UniProtKB]; Through alternative splicing, this gene encodes several distinct LEM domain containing protein isoforms. LEM domain proteins include inner nuclear membrane and intranuclear proteins, and are involved in a variety of cellular functions including gene expression, chromatin organization, and replication and cell cycle control. The encoded alpha isoform is broadly diffuse in the nucleus and contains a lamin binding domain, while the beta and gamma isoforms are localized to the nuclear membrane and contain an HDAC3 interaction domain. The distinct isoforms may compete with each other when acting to chaperone other proteins and regulate transcription. [provided by RefSeq, Aug 2019]., [RefSeq]; Thymopoietin (TP) and Thymopentin (TP5) may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 50, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "P08918;P08919;Q14860;Q16295", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0045296 cadherin binding;GO:0005521 lamin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0031965 nuclear membrane;GO:0000785 chromatin;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 54.6, "record_id": "P42166-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16363-1", "uniprot_id": [ { "id": "LAMA4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16363", "type": "external" } ], "mass": 202568.0, "length": 1823, "protein_name": "Laminin subunit alpha-4", "gene_name": "LAMA4", "organism": "Human", "refseq_name": "laminin subunit alpha-4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001098676", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098676", "type": "external" } ], "gene_names_uniprotkb": "LAMA4", "gene_names_refseq": "CMD1JJ; LAMA3; LAMA4*-1; LAMA4", "protein_names_uniprotkb": "Laminin subunit alpha-4; Laminin-14 subunit alpha; Laminin-8 subunit alpha; Laminin-9 subunit alpha", "protein_names_refseq": "laminin alpha 4 chain; laminin subunit alpha-4 isoform 1 precursor; laminin, alpha 4", "tax_id": 9606, "disease": "dilated cardiomyopathy 1JJ (Disease Ontology:DOID:0110438)", "pathway": " (hsa:3910); (R-HSA-3000157); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-8874081); (R-HSA-9638630); (R-HSA-9913351); (R-HSA-9925563)", "pathway_count": 8, "publication_count": 151, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10189375;10339611;10441321;10521801;10545507;10673326;10893187;10932245;10942431;11054877;11084047;11237011;11259413;11352924;11430802;11495720;11739641;11847221;11964076;12189167;12225811;12237301;1319059;1376317;14715956;15075323;15175026;15296743;1544908;16293224;16413178;16493581;16524571;16581764;16782899;16806867;17574028;17588949;17646580;17905726;18764929;19159218;19346169;19615748;19946898;20044576;2059554;20802513;21642437;21789315;22134916;22159078;22223806;22493504;23090970;2364322;2412224;24190977;2420006;2430969;24480479;25326458;25576301;25645385;26992070;28218747;28834231;28904123;29391424;29393594;29557506;29741879;29789417;30459171;30779550;31154438;31844290;31848261;32157095;32161166;32337544;32488085;32502341;3282674;32938616;33141586;33592498;33912179;33968037;33981976;34394003;34414238;35051231;35289036;35580925;36213313;36861161;37074911;37453717;38665916;3997977;6193777;6439184;7499434;7509446;7527058;7527495;7542669;7547961;7559467;7592992;7685013;7693733;7781776;7844150;7852349;7925941;7959779;8002934;8043271;8054685;8268918;8349731;8440685;8576247;8607994;8627307;8706685;8798547;8798654;8845841;8943283;9214383;9245798;9252349;9294172;9310354;9341124;9346959;9405466;9412493;9417118;9645947;9652404;9659899;9659900;9685393;9864373;9949188", "class_list": "", "function": "Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components., [UniProtKB, UniProtKB, UniProtKB]; Effect of LAMA4 on Prognosis and Its Correlation with Immune Infiltration in Gastric Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Laminin-alpha4 Is Upregulated in Both Human and Murine Models of Obesity. Publication Status: Online-Only, [RefSeq, PubMed]; Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]., [RefSeq]; [Research Progress on the Role of Laminin Subunit Alpha 4 in Diseases]., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 13, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 13, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 13, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 13, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 125, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 154, "disease_count": 1, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MQS9;Q14731;Q14735;Q15335;Q4LE44;Q5SZG8;Q9BTB8;Q9UE18;Q9UJN9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0045202 synapse;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0030155 regulation of cell adhesion;GO:0030334 regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 32.2, "record_id": "Q16363-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULK0-1", "uniprot_id": [ { "id": "GRID1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULK0", "type": "external" } ], "mass": 112131.0, "length": 1009, "protein_name": "Glutamate receptor ionotropic, delta-1", "gene_name": "GRID1", "organism": "Human", "refseq_name": "glutamate receptor ionotropic, delta-1 precursor", "refseq_ac": [ { "id": "NP_060021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060021", "type": "external" } ], "gene_names_uniprotkb": "GRID1; KIAA1220", "gene_names_refseq": "GRID1; GluD1-b; GluD1", "protein_names_uniprotkb": "Glutamate receptor ionotropic, delta-1; GluD1; GluR delta-1 subunit", "protein_names_refseq": "gluR delta-1 subunit; glutamate receptor delta-1 subunit; glutamate receptor ionotropic, delta-1 precursor; glutamate receptor ionotropic, delta-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:2894)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18452278;26992070;28834231;29393594;29557506;30779550;31154438;31844290;32350084;32502341;35051231;35251023;35494241;36010968;37944084;38060673;39052831", "class_list": "", "function": "Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants., [RefSeq, PubMed]; Member of the ionotropic glutamate receptor family, which plays a crucial role in synaptic organization and signal transduction in the central nervous system. Although it shares structural features with ionotropic glutamate receptors, does not bind glutamate as a primary ligand (PubMed:38060673). Instead, forms trans-synaptic adhesion complexes with presynaptic neurexins and cerebellins, regulating NMDA and AMPA receptor activity and influencing synaptic plasticity through signal transduction (By similarity). In the presence of neurexins and cerebellins, forms cation-selective channels that are proposed to be gated by glycine and D-serine (By similarity). However, recent research disputes this ligand-gated cation channel activity (PubMed:39052831). Cation-selective ion channel can be triggered by GRM1 in dopaminergic neurons (By similarity). Also acts as a receptor for GABA, modulating inhibitory synaptic plasticity through non-ionotropic mechanisms (PubMed:38060673)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system., [UniProtKB, UniProtKB]; This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 54, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3KXD5;B7Z7L0;Q8IXT3", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0099530 G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential;GO:0042802 identical protein binding;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0004971 AMPA glutamate receptor activity;GO:0016917 GABA receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0043197 dendritic spine;GO:0045202 synapse", "go_biological_process": "GO:0035249 synaptic transmission, glutamatergic;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0035176 social behavior;GO:0050804 modulation of chemical synaptic transmission;GO:0099557 trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9ULK0-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99538-1", "uniprot_id": [ { "id": "LGMN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99538", "type": "external" } ], "mass": 49411.0, "length": 433, "protein_name": "Legumain", "gene_name": "LGMN", "organism": "Human", "refseq_name": "legumain isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_001008530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008530", "type": "external" } ], "gene_names_uniprotkb": "LGMN; PRSC1", "gene_names_refseq": "AEP; LGMN1; LGMN; PRSC1", "protein_names_uniprotkb": "Legumain; 3.4.22.34; AEP; Asparaginyl endopeptidase; Protease, cysteine 1", "protein_names_refseq": "asparaginyl endopeptidase; cysteine protease 1; legumain isoform 1 preproprotein; protease, cysteine 1; protease, cysteine, 1 (legumain)", "tax_id": 9606, "disease": "lymphatic system disease (Disease Ontology:DOID:75)", "pathway": " (hsa:5641); (R-HSA-1679131); (R-HSA-196791); (R-HSA-2132295)", "pathway_count": 4, "publication_count": 198, "publication_id_list": "10.1101/2023.09.13.557529;10036229;10052453;10064083;10072072;10480952;10518789;10540230;10593899;10631941;10631952;10639150;10748235;10809954;11012668;11085925;11234559;11237011;11529500;11684289;11717447;11790530;11799400;11813165;11853874;11856765;12078484;12198549;12227689;12742663;12748383;12855575;12867411;14716310;14731593;15226270;15465040;15647825;15728261;15749704;15911768;16181339;16242130;16415873;16618111;16824007;16857668;16973841;17142755;17275357;17283181;17452530;18046453;18082565;18166152;18292509;18305481;18509083;18820679;18931679;19079358;19159218;19451267;19473635;1956401;19564404;19965672;20855885;20865800;21081667;21116285;2121367;21398612;21402738;21441454;21595846;21604257;21654843;21849106;2190094;22164301;22223641;22564762;22877430;22879719;22918710;23090970;23301498;23328677;23776206;23857223;2391366;24101867;24190977;24569127;24714562;25363733;25502872;25505266;25576301;25645385;26154972;26434738;26598643;26748501;26992070;27090790;27250744;27726376;27846572;27862975;27913313;28005175;28206978;28467828;28841848;29351928;29437277;29557506;29741879;30425301;30429286;30573663;30626607;30833945;31154438;31611695;31844290;31848261;31998317;32125861;32157095;32162841;32350084;32488085;32938616;32983136;33043033;33091337;33592498;33717175;33912179;33936100;33968037;34019948;34078123;34357683;34433824;34932366;35051231;35154160;35251023;35580925;36215666;36241641;37074911;37909538;37938771;37977223;37988165;38009231;38665916;40596516;7481823;7592972;7650016;7667286;7768901;8046351;8134367;8145819;8148318;8313912;8344253;8397411;8415765;8506296;8642258;8679605;8687433;8706697;8849454;8893817;8909537;8939989;8947036;9065484;9075930;9202021;9311912;9312039;9497313;9539769;9545226;9606180;9799232;9821970;9872320", "class_list": "", "function": "AEP-cleaved DDX3X induces alternative RNA splicing events to mediate cancer cell adaptation in harsh microenvironments. Publication Status: Online-Only, [RefSeq, PubMed]; C-Src regulates delta-secretase activation and truncated Tau production by phosphorylating the E3 ligase Traf6., [RefSeq, PubMed]; Has a strict specificity for hydrolysis of asparaginyl bonds (PubMed:23776206). Can also cleave aspartyl bonds slowly, especially under acidic conditions (PubMed:23776206). Involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system (PubMed:9872320). Also involved in MHC class I antigen presentation in cross-presenting dendritic cells by mediating cleavage and maturation of Perforin-2 (MPEG1), thereby promoting antigen translocation in the cytosol (By similarity). Required for normal lysosomal protein degradation in renal proximal tubules (By similarity). Required for normal degradation of internalized EGFR (By similarity). Plays a role in the regulation of cell proliferation via its role in EGFR degradation (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Potential relevance of salivary legumain for the clinical diagnostic of hand, foot, and mouth disease., [RefSeq, PubMed]; Relationship between Increased Plasma Levels of Legumain and Properties of Coronary Atherosclerotic Plaque., [RefSeq, PubMed]; This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 31, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "O00123;Q86TV2;Q86TV3;Q9BTY1", "ec_number_list": [ { "id": "3.4.22.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.15", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "3.4.22.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.38", "type": "external" }, { "id": "3.4.22.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.34", "type": "external" } ], "go_molecular_function": "GO:0048156 tau protein binding;GO:0008233 peptidase activity;GO:0061133 endopeptidase activator activity;GO:0004197 cysteine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0045177 apical part of cell;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0042359 vitamin D metabolic process;GO:2001028 positive regulation of endothelial cell chemotaxis;GO:0006508 proteolysis;GO:0007613 memory;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 23.7, "record_id": "Q99538-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62750-1", "uniprot_id": [ { "id": "RL23A_HUMAN", "url": "https://www.uniprot.org/uniprot/P62750", "type": "external" } ], "mass": 17695.0, "length": 156, "protein_name": "Large ribosomal subunit protein uL23", "gene_name": "RPL23A", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL23", "refseq_ac": [ { "id": "NP_000975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000975", "type": "external" } ], "gene_names_uniprotkb": "RPL23A", "gene_names_refseq": "L23A; MDA20; RPL23A; uL23", "protein_names_uniprotkb": "Large ribosomal subunit protein uL23; 60S ribosomal protein L23a", "protein_names_refseq": "60S ribosomal protein L23a; large ribosomal subunit protein uL23; melanoma differentiation-associated gene 20", "tax_id": 9606, "disease": "", "pathway": " (hsa:6147); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 17, "publication_count": 308, "publication_id_list": "10.1101/2023.09.13.557529;10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11466336;11532962;11544179;11546874;11551508;11677247;11682607;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17081983;17142313;17145369;17189298;17267404;17322306;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18212344;18230761;18256688;18285520;18423202;18438418;18446792;18447580;18447585;18455985;18512783;18524595;18539146;1856230;18566446;1861871;18657639;18669648;18767875;18974281;18991276;19007248;19060897;19106111;19150429;19332556;19359157;19415658;19417104;19478851;19503078;19556969;19564402;19608919;19691289;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21740066;22072790;22190735;22195017;22424782;22431104;22916032;23085078;23186163;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25505266;25525153;25576301;25578875;25645385;25802875;25810538;25969445;26154972;26203195;26237581;26375851;26552660;26728094;26758079;26992070;27397612;27526673;27846572;27862975;27920218;28065601;28132843;28218747;28228285;28446606;28514659;28685749;28832583;28834231;28904123;29242379;29331515;29393594;29413899;29493099;29508533;29557506;29632046;29632312;29632711;29786170;29789417;30192525;30244831;30293783;30315122;30429286;30444036;30484775;30524438;30779550;30804176;30833945;31011209;31020640;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31937595;31998317;32099016;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32522876;32579943;32669547;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33214551;33298915;33392160;33406423;33465208;33592498;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34211107;34357683;34433824;34509645;34561969;34932366;35051231;35138101;35154160;35251023;35318648;35526384;35561310;35580925;35637966;36010968;36215666;36241641;36284347;36302773;37217939;37676773;37938771;38665916;39395807;40596516;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8662070;8890909;9211906;9417910;9431993;9482744;9631292;9637248;9687515;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:32669547). Binds a specific region on the 26S rRNA (PubMed:23636399, PubMed:32669547). May promote p53/TP53 degradation possibly through the stimulation of MDM2-mediated TP53 polyubiquitination (PubMed:26203195)., [UniProtKB, PubMed, PubMed, PubMed]; Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Binds a specific region on the 26S rRNA. May promote p53/TP53 degradation possibly through the stimulation of MDM2-mediated TP53 polyubiquitination., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; HERC3 directly targets RPL23A for ubiquitination degradation and further regulates Colorectal Cancer proliferation and the cell cycle. Publication Status: Online-Only, [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L23P family of ribosomal proteins. It is located in the cytoplasm. The protein may be one of the target molecules involved in mediating growth inhibition by interferon. In yeast, the corresponding protein binds to a specific site on the 26S rRNA. This gene is co-transcribed with the U42A, U42B, U101A, and U101B small nucleolar RNA genes, which are located in its third, first, second, and fourth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R5B2;P29316;P39024;Q92774", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0045296 cadherin binding;GO:0019843 rRNA binding;GO:0003735 structural constituent of ribosome;GO:1904841 TORC2 complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 31.4, "record_id": "P62750-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08380-1", "uniprot_id": [ { "id": "LG3BP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08380", "type": "external" } ], "mass": 65331.0, "length": 585, "protein_name": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "organism": "Human", "refseq_name": "galectin-3-binding protein precursor", "refseq_ac": [ { "id": "NP_005558", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005558", "type": "external" } ], "gene_names_uniprotkb": "LGALS3BP; M2BP", "gene_names_refseq": "90K; BTBD17B; CyCAP; LGALS3BP; M2BP; MAC-2-BP; TANGO10B; gp90", "protein_names_uniprotkb": "Galectin-3-binding protein; Basement membrane autoantigen p105; Lectin galactoside-binding soluble 3-binding protein; MAC2BP; Mac-2 BP; Mac-2-binding protein; Tumor-associated antigen 90K", "protein_names_refseq": "L3 antigen; MAC2BP; Mac-2-binding protein; basement membrane autoantigen p105; galectin-3-binding protein precursor; lectin galactoside-binding soluble 3-binding protein; mac-2 BP; serum protein 90K; transport and golgi organization 10 homolog B; tumor-associated antigen 90K", "tax_id": 9606, "disease": "", "pathway": " (hsa:3959); (R-HSA-114608)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "37268159;10.1007/s00018-021-03863-1;10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11146440;11237011;11867635;1435334;14630798;15084671;15297306;16335952;16740002;18780401;19139490;19159218;19531498;21526146;23090970;23301498;23584533;23640497;24190977;25502872;25576301;25645385;25892735;26791533;26871637;26992070;27090790;27600516;28411811;28467828;28510447;28657654;29162697;29242379;29391424;29393594;29493099;29557506;29671580;29741879;29786170;30192525;30397120;30459171;30779550;30833945;31154438;31222486;31844290;32125861;32157095;32161166;32350084;32387766;32488085;32502341;32574038;32938616;32983136;33214551;33592498;33912179;33936100;33968037;33981976;34019948;34089345;34171305;34357683;34725712;34932366;35051231;35154160;35251023;35318648;35494241;35580925;35874702;36215666;36241641;36284347;37074911;37938771;38321872;38345243;38393692;38665916;38825040;39029315;40596516;6457647;8034587;8390986;8454062;8467233;8757764;9501082", "class_list": "glycogene", "function": "Aberrant expression of LGALS3BP drives an unfavorable prognosis and more aggressive in HCC via regulating PI3K/AKT signaling., [RefSeq, PubMed]; Binds to extracellular matrix proteins. Binds to pathogen-associated molecular patterns (PAMPs) present on the cell walls of Gram-positive and Gram-negative bacteria and fungi, behaving as a pattern recognition receptor (PRR). Induces bacterial and fungal aggregation and subsequent inhibition of PAMP-induced cytokine release. Does not possess intrinsic bactericidal activity. May play a role in the innate defense and homeostasis of certain epithelial surfaces., [UniProtKB, UniProtKB]; Galectin-3-Binding Protein Inhibits Extracellular Heparan 6-O-Endosulfatase Sulf-2., [RefSeq, PubMed]; LGALS3BP is a novel and potential biomarker in clear cell renal cell carcinoma., [RefSeq, PubMed]; Potential of Mac-2-binding protein glycan isomer as a new therapeutic target in pancreatic cancer., [RefSeq, PubMed]; Promotes integrin-mediated cell adhesion. May stimulate host defense against viruses and tumor cells., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 743, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 223, "disease_count": 0, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A0A0S2Z3Y1;Q7M4S0;Q9UCH8;Q9UCH9;Q9UCI0", "ec_number_list": [], "go_molecular_function": "GO:0005044 scavenger receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016020 membrane;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0006968 cellular defense response", "synthesized_glycan_count": 0, "hit_score": 33.8, "record_id": "Q08380-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100100010001.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0AVF1-1", "uniprot_id": [ { "id": "IFT56_HUMAN", "url": "https://www.uniprot.org/uniprot/A0AVF1", "type": "external" } ], "mass": 64178.0, "length": 554, "protein_name": "Intraflagellar transport protein 56", "gene_name": "IFT56", "organism": "Human", "refseq_name": "intraflagellar transport protein 56 isoform 2", "refseq_ac": [ { "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392", "type": "external" } ], "gene_names_uniprotkb": "IFT56; TTC26", "gene_names_refseq": "BRENS; DYF13; IFT56; TTC26; dyf-13", "protein_names_uniprotkb": "Intraflagellar transport protein 56; TPR repeat protein 26; Tetratricopeptide repeat protein 26", "protein_names_refseq": "TPR repeat protein 26; intraflagellar transport protein 56 isoform 2; intraflagellar transport protein 56; tetratricopeptide repeat domain 26; tetratricopeptide repeat protein 26", "tax_id": 9606, "disease": "biliary, renal, neurologic, and skeletal syndrome (MONDO:MONDO:0859191)", "pathway": " (hsa:79989); (R-HSA-5620924)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10069812;11237011;11285270;12795688;15231740;15269286;15489852;15523559;15955805;16049494;16435301;16492809;16775004;16782012;17312020;17314406;17574030;18180368;18304522;18364699;18369462;18491316;18852297;19112494;19147001;19253336;19384852;19450523;19720863;19805633;19913121;20112406;20435895;20526327;20526328;20530210;20628086;20889716;21427764;21936775;22118932;22922713;22992454;23945166;23990561;24140113;24296415;24596149;24616010;25205765;25349261;25443296;25645385;25892735;28904123;29393594;29557506;31154438;31217245;31595528;31844290;32161166;32265295;32357974;32387766;32488085;32617964;33717175;33981976;37938771;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans., [RefSeq, PubMed]; Component of the intraflagellar transport (IFT) complex B required for transport of proteins in the motile cilium. Required for transport of specific ciliary cargo proteins related to motility, while it is neither required for IFT complex B assembly or motion nor for cilium assembly. Required for efficient coupling between the accumulation of GLI2 and GLI3 at the ciliary tips and their dissociation from the negative regulator SUFU. Plays a key role in maintaining the integrity of the IFT complex B and the proper ciliary localization of the IFT complex B components. Not required for IFT complex A ciliary localization or function. Essential for maintaining proper microtubule organization within the ciliary axoneme., [UniProtKB, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy., [RefSeq, PubMed]; TTC26 is an intraflagellar transport protein required for transport of motility-related proteins into flagella. Erratum:[Elife. 2014 Apr 01;3:e02897. doi: 10.7554/eLife.02897. PMID: 24692455] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D1S3;B7Z5M0;C9J2N7;F8W724;Q9H9S8;Q9NTC0", "ec_number_list": [], "go_molecular_function": "GO:0120170 intraciliary transport particle B binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005929 cilium;GO:0036064 ciliary basal body;GO:0097546 ciliary base;GO:0030991 intraciliary transport particle A", "go_biological_process": "GO:0015031 protein transport;GO:0060271 cilium assembly;GO:0007224 smoothened signaling pathway;GO:0035735 intraciliary transport involved in cilium assembly;GO:0042073 intraciliary transport", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "A0AVF1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15559-1", "uniprot_id": [ { "id": "NQO1_HUMAN", "url": "https://www.uniprot.org/uniprot/P15559", "type": "external" } ], "mass": 30868.0, "length": 274, "protein_name": "NAD(P)H dehydrogenase [quinone] 1", "gene_name": "NQO1", "organism": "Human", "refseq_name": "NAD(P)H dehydrogenase [quinone] 1 isoform a", "refseq_ac": [ { "id": "NP_000894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000894", "type": "external" } ], "gene_names_uniprotkb": "NQO1; DIA4; NMOR1", "gene_names_refseq": "DHQU; DIA4; DTD; NMOR1; NMORI; NQO1; QR1", "protein_names_uniprotkb": "NAD(P)H dehydrogenase [quinone] 1; 1.6.5.2; Azoreductase; DT-diaphorase; DTD; Menadione reductase; NAD(P)H:quinone oxidoreductase 1; Phylloquinone reductase; QR1; Quinone reductase 1", "protein_names_refseq": "DT-diaphorase; NAD(P)H dehydrogenase [quinone] 1 isoform a; NAD(P)H dehydrogenase, quinone 1; NAD(P)H-quinone oxidoreductase; NAD(P)H:Quinone acceptor oxidoreductase type 1; NAD(P)H:menadione oxidoreductase 1; NAD(P)H:quinone oxidoreductase 1; NAD(P)H:quinone oxireductase; azoreductase; diaphorase (NADH/NADPH) (cytochrome b-5 reductase); diaphorase-4; dioxin-inducible 1; menadione reductase; phylloquinone reductase; quinone reductase 1", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); small cell carcinoma (Disease Ontology:DOID:0050685); primary progressive multiple sclerosis (Disease Ontology:DOID:0050784); myelodysplastic syndrome (Disease Ontology:DOID:0050908); overactive bladder syndrome (Disease Ontology:DOID:0070355); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); congenital disorder of glycosylation Ia (Disease Ontology:DOID:0080552); prostate cancer (Disease Ontology:DOID:10283); tonsillitis (Disease Ontology:DOID:10456); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); membranous glomerulonephritis (Disease Ontology:DOID:10976); urinary bladder cancer (Disease Ontology:DOID:11054); osteoporosis (Disease Ontology:DOID:11476); beta thalassemia (Disease Ontology:DOID:12241); alcoholic hepatitis (Disease Ontology:DOID:12351); leukemia (Disease Ontology:DOID:1240); acoustic neuroma (Disease Ontology:DOID:12689); neurodegenerative disease (Disease Ontology:DOID:1289); retinopathy of prematurity (Disease Ontology:DOID:13025); cholestasis (Disease Ontology:DOID:13580); Down syndrome (Disease Ontology:DOID:14250); prostatitis (Disease Ontology:DOID:14654); cystic fibrosis (Disease Ontology:DOID:1485); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); ichthyosis (Disease Ontology:DOID:1697); status epilepticus (Disease Ontology:DOID:1824); McCune Albright syndrome (Disease Ontology:DOID:1858); impotence (Disease Ontology:DOID:1875); colon cancer (Disease Ontology:DOID:219); transient cerebral ischemia (Disease Ontology:DOID:224); arteriosclerosis (Disease Ontology:DOID:2349); transitional cell carcinoma (Disease Ontology:DOID:2671); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); Turner syndrome (Disease Ontology:DOID:3491); middle cerebral artery infarction (Disease Ontology:DOID:3525); pulmonary fibrosis (Disease Ontology:DOID:3770); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); lung non-small cell carcinoma (Disease Ontology:DOID:3908); urinary system cancer (Disease Ontology:DOID:3996); systemic scleroderma (Disease Ontology:DOID:418); macular degeneration (Disease Ontology:DOID:4448); renal cell carcinoma (Disease Ontology:DOID:4450); epidermolysis bullosa dystrophica (Disease Ontology:DOID:4959); liver cirrhosis (Disease Ontology:DOID:5082); ureteral obstruction (Disease Ontology:DOID:5199); ankylosing spondylitis (Disease Ontology:DOID:7147); chronic kidney disease (Disease Ontology:DOID:784); osteoarthritis (Disease Ontology:DOID:8398); lung disease (Disease Ontology:DOID:850); chronic myeloid leukemia (Disease Ontology:DOID:8552); myeloid leukemia (Disease Ontology:DOID:8692); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); acute myeloid leukemia (Disease Ontology:DOID:9119); liver benign neoplasm (Disease Ontology:DOID:916); Barrett's esophagus (Disease Ontology:DOID:9206); ornithine carbamoyltransferase deficiency (Disease Ontology:DOID:9271); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); multiple myeloma (Disease Ontology:DOID:9538); pulmonary emphysema (Disease Ontology:DOID:9675); type 1 diabetes mellitus (Disease Ontology:DOID:9744); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1728); (R-HSA-350562); (R-HSA-9818027); (R-HSA-9943962)", "pathway_count": 4, "publication_count": 178, "publication_id_list": "10447260;10543876;10706635;10733945;10821856;10921920;11237011;11274398;11309284;11356022;11507205;11587640;11735396;11744694;12036909;12234984;12235164;12359729;12506115;12660156;14688016;15102952;15138483;15448164;15520857;15590625;15687255;15728556;15749015;15824189;15960975;16095617;16314513;1657151;16700548;16702380;16878130;16949368;17027977;17143291;17234762;17350655;1737339;17469025;17603073;17900240;17942419;18061666;18378692;18511948;19028565;19273602;19608619;20453063;20460467;20526805;20593958;21253823;21636573;21775727;21899694;22306249;22667998;22995213;23027624;23109831;23186163;23285124;23408615;24041992;24142528;24213850;24366607;24397554;24714562;24884893;25002527;25576301;25602258;25608636;25645385;25892735;26154972;26443277;26811146;26992070;27039751;27100828;27600516;27653015;27756681;27846572;28063628;28218747;28228285;28291250;2843525;28533432;28589969;28832583;28904123;28985506;29242379;29331515;29393594;29557506;29632046;29693710;29769354;29786170;29789417;29930882;29959055;30315122;30410026;30429286;30484775;30779550;30833945;31154438;31217245;31222486;31530632;31597407;31844290;31848261;31937595;32157095;32161166;32284348;32350084;32357974;32387766;32488085;32601262;32897882;32938616;32983136;33043019;33141586;33214551;33298915;33392160;33462411;33592498;33717175;33774477;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34561969;34932366;35051231;35251023;35318648;35580925;36215666;36241641;36284347;37217939;37938771;38860482;38992928;39013843;39094401;39174970;6261960;7811704;7959763;8999809;9240432;9271353", "class_list": "", "function": "Correlation of PD-L1 expression with CD8+ T cells and oxidative stress-related molecules NRF2 and NQO1 in esophageal squamous cell carcinoma., [RefSeq, PubMed]; DPP9 regulates NQO1 and ROS to promote resistance to chemotherapy in liver cancer cells., [RefSeq, PubMed]; Flavin-containing quinone reductase that catalyzes two-electron reduction of quinones to hydroquinones using either NADH or NADPH as electron donors. In a ping-pong kinetic mechanism, the electrons are sequentially transferred from NAD(P)H to flavin cofactor and then from reduced flavin to the quinone, bypassing the formation of semiquinone and reactive oxygen species (By similarity) (PubMed:8999809, PubMed:9271353). Regulates cellular redox state primarily through quinone detoxification. Reduces components of plasma membrane redox system such as coenzyme Q and vitamin quinones, producing antioxidant hydroquinone forms. In the process may function as superoxide scavenger to prevent hydroquinone oxidation and facilitate excretion (PubMed:15102952, PubMed:8999809, PubMed:9271353). Alternatively, can activate quinones and their derivatives by generating redox reactive hydroquinones with DNA cross-linking antitumor potential (PubMed:8999809). Acts as a gatekeeper of the core 20S proteasome known to degrade proteins with unstructured regions. Upon oxidative stress, interacts with tumor suppressors TP53 and TP73 in a NADH-dependent way and inhibits their ubiquitin-independent degradation by the 20S proteasome (PubMed:15687255, PubMed:28291250)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy., [RefSeq, PubMed]; NQO1 polymorphism and susceptibility to ischemic stroke in a Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; UBA2 SUMOylates NQO1 and promotes the proliferation of hepatocellular carcinoma by modulating the MAPK pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 69, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5Y9;B4DNM7;B7ZAD1;Q86UK1", "ec_number_list": [ { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" }, { "id": "1.6.5.10", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.10", "type": "external" }, { "id": "4.1.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.17", "type": "external" }, { "id": "1.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.2", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "1.1.1.100", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.100", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "1.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0003955 NAD(P)H dehydrogenase (quinone) activity;GO:0008753 NADPH dehydrogenase (quinone) activity;GO:0004128 cytochrome-b5 reductase activity, acting on NAD(P)H", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045202 synapse", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0007271 synaptic transmission, cholinergic;GO:0032496 response to lipopolysaccharide;GO:0045087 innate immune response;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "P15559-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00182-1", "uniprot_id": [ { "id": "LEG9_HUMAN", "url": "https://www.uniprot.org/uniprot/O00182", "type": "external" } ], "mass": 39518.0, "length": 355, "protein_name": "Galectin-9", "gene_name": "LGALS9", "organism": "Human", "refseq_name": "galectin-9 isoform 3", "refseq_ac": [ { "id": "NP_001317092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317092", "type": "external" } ], "gene_names_uniprotkb": "LGALS9", "gene_names_refseq": "HUAT; LGALS9A; LGALS9", "protein_names_uniprotkb": "Galectin-9; Ecalectin; Gal-9; Tumor antigen HOM-HD-21", "protein_names_refseq": "ecalectin; gal-9; galectin-9 isoform 3; lectin, galactoside-binding, soluble, 9; tumor antigen HOM-HD-21; urate transporter/channel protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:3965); (R-HSA-451927)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "40667337;11237011;11823532;12115481;12223516;14556005;15489334;16116184;16286920;16625196;18005988;18977853;20209097;20227520;20861009;21670307;22299025;23242525;23408620;23481700;23817958;24333696;24465902;24631362;24714562;24715725;24786365;24895689;25502872;25578313;25754930;26154972;26728094;26992070;27846572;27920218;28063628;28218747;28467828;28832583;28904123;29242379;29314611;29331515;29393594;29437277;29508533;29557506;29632046;29632711;29786170;30204750;30410026;30429286;30626607;31154438;31844290;31848261;31998317;32157095;32350084;32387766;32502341;32897882;32983136;33043033;33141586;33392160;33592498;33606034;33923930;33936100;34067072;34078123;34090287;34137463;34357683;34509645;34932366;35051231;35154160;35251023;35580925;36284347;37938771;39000016;39021347;39121996;39333198;39445017;9045665;9642261", "class_list": "glycogene", "function": "Acts as an eosinophil chemoattractant (PubMed:9642261). It also inhibits angiogenesis (PubMed:24333696). Suppresses IFNG production by natural killer cells (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Binds galactosides (PubMed:18005988). Has high affinity for the Forssman pentasaccharide (PubMed:18005988). Ligand for HAVCR2/TIM3 (PubMed:16286920). Binding to HAVCR2 induces T-helper type 1 lymphocyte (Th1) death (PubMed:16286920). Also stimulates bactericidal activity in infected macrophages by causing macrophage activation and IL1B secretion which restricts intracellular bacterial growth (By similarity). Ligand for P4HB; the interaction retains P4HB at the cell surface of Th2 T-helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration (PubMed:21670307). Ligand for CD44; the interaction enhances binding of SMAD3 to the FOXP3 promoter, leading to up-regulation of FOXP3 expression and increased induced regulatory T (iTreg) cell stability and suppressive function (By similarity). Promotes ability of mesenchymal stromal cells to suppress T-cell proliferation (PubMed:23817958). Expands regulatory T-cells and induces cytotoxic T-cell apoptosis following virus infection (PubMed:20209097). Activates ERK1/2 phosphorylation inducing cytokine (IL-6, IL-8, IL-12) and chemokine (CCL2) production in mast and dendritic cells (PubMed:16116184, PubMed:24465902). Inhibits degranulation and induces apoptosis of mast cells (PubMed:24465902). Induces maturation and migration of dendritic cells (PubMed:16116184, PubMed:25754930). Inhibits natural killer (NK) cell function (PubMed:23408620). Can transform NK cell phenotype from peripheral to decidual during pregnancy (PubMed:25578313). Astrocyte derived galectin-9 enhances microglial TNF production (By similarity). May play a role in thymocyte-epithelial interactions relevant to the biology of the thymus. May provide the molecular basis for urate flux across cell membranes, allowing urate that is formed during purine metabolism to efflux from cells and serving as an electrogenic transporter that plays an important role in renal and gastrointestinal urate excretion (By similarity). Highly selective to the anion urate (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Ecalectin is a novel eosinophil-activating factor, [RefSeq, PubMed]; Expression of Intracellular Galectin-8 and -9 in Endometrial Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Galectin-9 as a new biomarker of acute-on-chronic liver failure. Publication Status: Online-Only, [RefSeq, PubMed]; IFN-gamma-induced production of galectin-9 by endothelial cells may play an important role in immune responses by regulating interactions between vascular wall & eosinophils. In situ endothelium from inflammatory diseases expressed galectin-9., [RefSeq, PubMed]; In chronic spontaneous urticaria, increased Galectin-9 expression on basophils and eosinophils is linked to high disease activity, endotype-specific markers, and response to omalizumab treatment., [RefSeq, PubMed]; Modulation of galectin-9 mediated responses in monocytes and T-cells by pregnancy-specific glycoprotein 1., [RefSeq, PubMed]; Monocyte-derived Galectin-9 and PD-L1 differentially impair adaptive and innate immune response in chronic HBV infection and their expression remain unaltered after antiviral therapy. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of galectin 9 is associated with cell aggregation and apoptosis of melanoma cells, [RefSeq, PubMed]; The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The protein encoded by this gene is an S-type lectin. It is overexpressed in Hodgkin's disease tissue and might participate in the interaction between the H&RS cells with their surrounding cells and might thus play a role in the pathogenesis of this disease and/or its associated immunodeficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 426, "reported_interactions": 0, "missing_score": 8358, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A7VJG6;F8W9W4;O14532;O75028;Q3B8N1;Q53FQ0;Q8WYQ7;Q9NQ58", "ec_number_list": [], "go_molecular_function": "GO:0070492 oligosaccharide binding;GO:0019899 enzyme binding;GO:0030246 carbohydrate binding;GO:0016936 galactoside binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031012 extracellular matrix", "go_biological_process": "GO:0032736 positive regulation of interleukin-13 production;GO:2001200 positive regulation of dendritic cell differentiation;GO:0032834 positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response;GO:0006935 chemotaxis;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "O00182-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UI32-1", "uniprot_id": [ { "id": "GLSL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UI32", "type": "external" } ], "mass": 66323.0, "length": 602, "protein_name": "Glutaminase liver isoform, mitochondrial", "gene_name": "GLS2", "organism": "Human", "refseq_name": "glutaminase liver isoform, mitochondrial isoform 4", "refseq_ac": [ { "id": "NP_001267727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267727", "type": "external" } ], "gene_names_uniprotkb": "GLS2; GA", "gene_names_refseq": "GA; GLS2; GLS; LGA; hLGA", "protein_names_uniprotkb": "Glutaminase liver isoform, mitochondrial; 3.5.1.2; GLS; L-glutaminase; L-glutamine amidohydrolase", "protein_names_refseq": "L-glutamine amidohydrolase; breast cell glutaminase; glutaminase 2 (liver, mitochondrial); glutaminase I; glutaminase liver isoform, mitochondrial isoform 4; phosphate-activated glutaminase; phosphate-dependent glutaminase", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 71 (Disease Ontology:DOID:0112207)", "pathway": " (hsa:27165); (R-HSA-210500); (R-HSA-5628897); (R-HSA-8964539)", "pathway_count": 4, "publication_count": 108, "publication_id_list": "10329961;10440375;10620514;10716435;10745013;10980602;11001057;11015561;11029283;11034341;11163757;11237011;11242046;11340051;11486029;11545734;11756489;11903050;11959846;12054821;12161445;12163477;12203114;12438239;12444921;12453409;12519779;12714747;12869586;12906785;13298683;13538944;14651849;15105503;15223;15364907;15589136;15935055;16116111;16140933;16267323;16413492;16616430;16636147;16728594;16730026;16760263;16839880;17298220;1737786;17478680;17486094;17540029;17891149;17989281;18005987;18198340;18215623;18344994;18692468;19113821;19338303;19439913;19487573;19648921;19822145;20080666;20182617;20351271;20378837;20657015;21750704;21958598;22363791;23024808;23775793;24066844;24366874;24383451;24578174;24715725;24718924;25579166;25865492;26652033;26902786;2722838;28526749;28904123;29493099;29557506;31422819;3214421;33610185;33746066;35895807;4052435;429360;5666113;6819292;7883047;7979252;7989588;8119488;8294935;9514741;9701566;9926927", "class_list": "", "function": "As a unique p53 target gene, GLS2 is a mediator of p53's role in energy metabolism and antioxidant defense, which can contribute to its role in tumor suppression, [RefSeq, PubMed]; GLS2 Is a Tumor Suppressor and a Regulator of Ferroptosis in Hepatocellular Carcinoma., [RefSeq, PubMed]; Glutaminase isoforms expression switches microRNA levels and oxidative status in glioblastoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; Plays an important role in the regulation of glutamine catabolism. Promotes mitochondrial respiration and increases ATP generation in cells by catalyzing the synthesis of glutamate and alpha-ketoglutarate. Increases cellular anti-oxidant function via NADH and glutathione production. May play a role in preventing tumor proliferation., [UniProtKB, PubMed]; Results show L-type glutaminase is expressed in the brain with a nuclear localization and that this nuclear enzyme is catalytically active and displays kinetic properties different from both liver and kidney glutaminases, [RefSeq, PubMed]; Structure and activation mechanism of the human liver-type glutaminase GLS2., [RefSeq, PubMed]; The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z8Q9;Q8IX91;Q9NYY2;Q9UI31", "ec_number_list": [ { "id": "3.5.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.2", "type": "external" }, { "id": "6.3.4.16", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.16", "type": "external" }, { "id": "2.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.3.2", "type": "external" }, { "id": "3.5.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.2.3", "type": "external" }, { "id": "6.3.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.5.5", "type": "external" } ], "go_molecular_function": "GO:0004359 glutaminase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0042981 regulation of apoptotic process;GO:0072593 reactive oxygen species metabolic process;GO:0006520 amino acid metabolic process;GO:0006537 glutamate biosynthetic process;GO:0006543 L-glutamine catabolic process", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q9UI32-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P27816-1", "uniprot_id": [ { "id": "MAP4_HUMAN", "url": "https://www.uniprot.org/uniprot/P27816", "type": "external" } ], "mass": 121005.0, "length": 1152, "protein_name": "Microtubule-associated protein 4", "gene_name": "MAP4", "organism": "Human", "refseq_name": "microtubule-associated protein 4 isoform 4", "refseq_ac": [ { "id": "NP_001127836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127836", "type": "external" } ], "gene_names_uniprotkb": "MAP4", "gene_names_refseq": "MAP4", "protein_names_uniprotkb": "Microtubule-associated protein 4; MAP-4", "protein_names_refseq": "MAP-4; microtubule-associated protein 4 isoform 4", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis (Disease Ontology:DOID:332); tauopathy (Disease Ontology:DOID:680)", "pathway": " (hsa:4134)", "pathway_count": 1, "publication_count": 164, "publication_id_list": "10.1101/2023.09.13.557529;10791892;11237011;11683421;14759258;15144186;15216889;15302935;16093351;16565220;16964243;17081983;1718985;17287340;17322306;17487921;17693683;17924679;18088087;18212344;18452278;18491316;18510355;18669648;18691976;18707149;18767875;18802091;19007248;1905296;19369195;19413330;19415658;19651622;19664994;19664995;19690332;19691289;19748539;20058876;20068230;20068231;20166139;20230923;21136679;21158410;21406692;22544926;22661428;23186163;23481700;24275569;24366607;24397554;24714562;24715725;25114211;25232678;25505266;25576301;25645385;25746230;25810538;25880248;26154972;26375851;26728094;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28446606;28514659;28657654;28832583;28834231;28904123;29180244;29242379;29314611;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632711;29786170;29789417;30059200;30379171;30410026;30429286;30484775;30524438;30620550;31040780;31217245;31373491;31492838;31523197;31611695;31637018;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33123756;33141586;33298915;33465208;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34105348;34171305;34211107;34357683;34509645;34782749;34846842;34932366;35008409;35051231;35132862;35154160;35251023;35254053;35318648;35513511;35561310;35580925;35705054;36010968;36241641;36284347;37258650;37938771;38341398;38630589;38838015;39302247;39531497;39534244;7857940;8631898;9398320", "class_list": "", "function": "A p85 isoform switch enhances PI3K activation on endosomes by a MAP4- and PI3P-dependent mechanism., [RefSeq, PubMed]; Effects of three microtubule-associated proteins (MAP2, MAP4, and Tau) on microtubules' physical properties and neurite morphology. Publication Status: Online-Only, [RefSeq, PubMed]; MAP4 acts as an oncogene and prognostic marker and affects radioresistance by mediating epithelial-mesenchymal transition in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Non-neuronal microtubule-associated protein. Promotes microtubule assembly., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 40, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 40, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 40, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 99, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 70, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 42, "binding_glycan_count": 0, "secondary_ac_list": "Q13082;Q59FT2;Q68D74;Q6ZUW9;Q86V26;Q96A76;Q96NS9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008017 microtubule binding;GO:0005198 structural molecule activity;GO:0140778 microtubule stabilizing activity", "go_cellular_component": "GO:0005874 microtubule;GO:0005929 cilium;GO:0030424 axon;GO:0015630 microtubule cytoskeleton;GO:0005815 microtubule organizing center", "go_biological_process": "GO:0046785 microtubule polymerization;GO:0051294 establishment of spindle orientation;GO:0031175 neuron projection development;GO:0051301 cell division;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 20.9, "record_id": "P27816-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51948-1", "uniprot_id": [ { "id": "MAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P51948", "type": "external" } ], "mass": 35823.0, "length": 309, "protein_name": "CDK-activating kinase assembly factor MAT1", "gene_name": "MNAT1", "organism": "Human", "refseq_name": "CDK-activating kinase assembly factor MAT1 isoform 2", "refseq_ac": [ { "id": "NP_001171434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171434", "type": "external" } ], "gene_names_uniprotkb": "MNAT1; CAP35; MAT1; RNF66", "gene_names_refseq": "CAP35; MAT1; MNAT1; RNF66; TFB3", "protein_names_uniprotkb": "CDK-activating kinase assembly factor MAT1; CDK7/cyclin-H assembly factor; Cyclin-G1-interacting protein; Menage a trois; RING finger protein 66; RING finger protein MAT1; p35; p36", "protein_names_refseq": "CDK-activating kinase assembly factor MAT1 isoform 2; CDK-activating kinase assembly factor MAT1; CDK7/cyclin-H assembly factor; MNAT CDK-activating kinase assembly factor 1; MNAT1, CDK activating kinase assembly factor; RING finger protein 66; RING finger protein MAT1; cyclin G1 interacting protein; menage a trois 1 (CAK assembly factor); menage a trois homolog 1, cyclin H assembly factor; menage a trois-like protein 1 cyclin H assembly factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:4331); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167160); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-167200); (R-HSA-167246); (R-HSA-427413); (R-HSA-5696395); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-69200); (R-HSA-69202); (R-HSA-69231); (R-HSA-69273); (R-HSA-69656); (R-HSA-72086); (R-HSA-73762); (R-HSA-73772); (R-HSA-73776); (R-HSA-73779); (R-HSA-73863); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-77075); (R-HSA-8939236)", "pathway_count": 35, "publication_count": 346, "publication_id_list": "10024882;10082553;10199401;10207050;10323868;10375532;10385618;10393926;10395539;10454565;10471499;10499802;10526214;10600115;10652300;10723029;10734143;10757782;10827953;10831586;10866664;10913176;10916156;10944529;10984493;11007478;11032757;11056162;11063929;11073976;11141066;11157749;11231573;11231585;11237011;11238451;11250901;11278856;11313498;11313499;11313932;11350971;11416152;11433015;11486021;11511374;11585773;11719808;11739720;11784853;11847229;11859374;11884399;11884610;11897663;11904382;11907280;11971958;11988847;12080057;12208738;12370301;12393749;12411508;12435635;12444543;12646563;12653964;12660172;12676794;12730199;12732143;12754270;1310361;1312467;1384126;1396589;1423597;14517266;14517297;14597415;14610093;14701750;14969726;15024056;15220921;15456846;1547496;15489290;15572030;15579463;15590680;15678106;15781865;15989964;16030353;16195327;16246722;16491090;16582612;16751180;16782892;17000769;17092340;1717476;17234882;17254966;17254967;17290000;17318177;17355984;17466625;17466626;17499042;17533373;17908796;17948053;17981804;18079701;18157150;18280240;1828290;1828392;1828393;1828394;18285455;1836978;18384749;18394995;18414028;18614043;18691976;18701449;18710949;18827403;19056823;19075005;19160488;19192479;19279666;19369195;1939271;19458076;19487459;19661379;19713942;19729311;19838300;19940136;19941815;19941824;19952111;20068231;20107323;20159561;20227374;20360007;20368362;20541997;20663872;20843055;20876134;20887958;20934997;20952511;21070792;21282463;21423214;21571218;21715330;21813648;21900495;22012064;22012619;22081108;22118460;22466610;22466611;22466612;22805593;22897851;22902626;22982363;22988298;23007395;23038248;23045548;23186163;23242214;23352696;23481700;23538671;23622515;23737759;23751493;23906714;23973375;24127601;24275569;24354960;24402227;2449431;24515438;24554720;24662513;24715725;24876129;25043025;25154395;25394790;25418920;25429106;25435140;25538220;25561469;25576301;25645385;25712099;25733683;25916849;26042670;26151477;26659056;26992070;27137657;27418187;27418309;27846572;27920218;2805069;28063628;28218747;28228285;28297668;28832583;28834231;29154753;29242379;29393594;29437277;29508533;29632046;29786170;29789417;30429286;30711375;31543423;31844290;32157095;32355176;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33402344;33691108;33717175;33771996;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35580925;36010968;36241641;36284347;37938771;41100585;7151173;7491500;7559382;7597036;7601352;7629134;7660122;7660129;7660130;7700386;7737117;7743995;7797074;7799941;7801123;7853496;7954814;8078911;8114739;8119945;8139570;8156590;8246996;8330735;8336704;8370526;8428596;8440392;8465201;8490964;8497257;8521393;8521818;8692841;8700224;8876179;8946909;9042862;9063748;9106657;9130708;9144196;9190208;9256425;9268380;9325318;9326587;9353262;9405375;9447971;9448290;9450929;9482921;9489704;9508775;9512541;9582279;9632134;9670027;9679058;9699634;9716411;9765293;9771713;9790902;9852112;9857195;9875289;9891042", "class_list": "", "function": "Component of the CDK-activating kinase (CAK) complex, a master regulator of CDK activity by catalyzing the activating threonine phosphorylation of CDKs (PubMed:41100585). Binds and activates CDK7, the catalytic subunit of CAK (PubMed:41100585). CAK activates major mediators of cell cycle control, including CDK1, CDK2, CDK4 and CDK6, and plays a key role in regulating cell cycle progression (PubMed:41100585). CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts (PubMed:10024882). Involved in cell cycle control and in RNA transcription by RNA polymerase II (PubMed:10024882)., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "G3V1U8;Q15817;Q6ICQ7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061575 cyclin-dependent protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005675 transcription factor TFIIH holo complex;GO:0070985 transcription factor TFIIK complex;GO:0000439 transcription factor TFIIH core complex;GO:0070516 CAK-ERCC2 complex", "go_biological_process": "GO:0006281 DNA repair;GO:0006357 regulation of transcription by RNA polymerase II;GO:0043066 negative regulation of apoptotic process;GO:0048661 positive regulation of smooth muscle cell proliferation;GO:0000082 G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 34.7, "record_id": "P51948-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62280-1", "uniprot_id": [ { "id": "RS11_HUMAN", "url": "https://www.uniprot.org/uniprot/P62280", "type": "external" } ], "mass": 18431.0, "length": 158, "protein_name": "Small ribosomal subunit protein uS17", "gene_name": "RPS11", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS17", "refseq_ac": [ { "id": "NP_001006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006", "type": "external" } ], "gene_names_uniprotkb": "RPS11", "gene_names_refseq": "RPS11; S11; uS17", "protein_names_uniprotkb": "Small ribosomal subunit protein uS17; 40S ribosomal protein S11", "protein_names_refseq": "40S ribosomal protein S11; small ribosomal subunit protein uS17", "tax_id": 9606, "disease": "", "pathway": " (hsa:6205); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 328, "publication_id_list": "10358005;10364207;10513815;10580157;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15275975;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17074750;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19748539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20112406;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21044946;21063389;21097556;21145460;21419344;21740066;22072790;22174690;22190735;22195017;22223895;22645359;22855488;22916032;23035226;23085078;23186163;23217742;23234702;23269699;23439679;23481700;23482395;23555621;23636399;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25432065;25469497;25525153;25576301;25645385;25802875;25810538;25892735;25969445;26024233;26154972;26237581;26375851;26728094;26811146;26929215;26992070;27397612;27526673;27600516;27846572;27862975;27869121;27920218;28063628;28065601;28132843;28218747;28228285;28467828;28514659;28685749;28832583;28834231;28860189;28871256;28904123;29242379;29314611;29331515;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30293783;30315122;30410026;30429286;30484775;30524438;30573663;30779550;30804176;31020640;31092671;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31998317;32099016;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32579943;3267208;32680882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33091337;33123756;33141586;33188728;33214551;33268501;33298915;33392160;33479166;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34315815;34373319;34433824;34509645;34516797;34561969;34624207;34725712;34925382;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36302773;36610391;37217939;37938771;38665916;40914422;40930100;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9582194;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)., [UniProtKB, PubMed, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S17P family of ribosomal proteins that is a component of the 40S subunit. This gene is co-transcribed with the small nucleolar RNA gene U35B, which is located in the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R4F5;P04643;Q498Y6;Q6IRY0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019843 rRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0006412 translation;GO:0002181 cytoplasmic translation;GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 33.2, "record_id": "P62280-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43766-1", "uniprot_id": [ { "id": "LIAS_HUMAN", "url": "https://www.uniprot.org/uniprot/O43766", "type": "external" } ], "mass": 41911.0, "length": 372, "protein_name": "Lipoyl synthase, mitochondrial", "gene_name": "LIAS", "organism": "Human", "refseq_name": "lipoyl synthase, mitochondrial isoform 3 precursor", "refseq_ac": [ { "id": "NP_001265519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265519", "type": "external" } ], "gene_names_uniprotkb": "LIAS; HUSSY-01; LAS", "gene_names_refseq": "HGCLAS; HUSSY-01; LAS; LIAS; LIP1; LS; PDHLD", "protein_names_uniprotkb": "Lipoyl synthase, mitochondrial; 2.8.1.8; LS; Lip-syn; Lipoate synthase; Lipoic acid synthase", "protein_names_refseq": "lip-syn; lipoate synthase; lipoyl synthase, mitochondrial isoform 3 precursor; lipoyl synthase, mitochondrial", "tax_id": 9606, "disease": "pyruvate decarboxylase deficiency (Disease Ontology:DOID:3649); lipoic acid synthetase deficiency (MONDO:MONDO:0013762)", "pathway": " (hsa:11019); (R-HSA-9857492)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10103005;11124703;11237011;11389890;19074983;19570983;20877624;21846720;22152680;24256811;24334290;24341803;26375851;27717843;27923773;28757203;29987032;31042466;31844290;33562493;33981976;36680912;37453661;37481209", "class_list": "glycogene", "function": "Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives., [UniProtKB, HAMAP, UniProtKB]; Characterization and Reconstitution of Human Lipoyl Synthase (LIAS) Supports ISCA2 and ISCU as Primary Cluster Donors and an Ordered Mechanism of Cluster Assembly. Publication Status: Online-Only, [RefSeq, PubMed]; FDX1 regulates cellular protein lipoylation through direct binding to LIAS., [RefSeq, PubMed]; Lipoic acid synthetase deficiency results in an overall disturbance in the antioxidant defense network, leading to increased inflammation, insulin resistance, and mitochondrial dysfunction., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Oxoglutarate dehydrogenase (OGDH) and lipoic acid synthase (LIAS), which when mutated stabilize HIF1alpha in a non-hydroxylated form., [RefSeq, PubMed]; The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020]., [RefSeq]; This study used a bioinformatics approach to predict its structure. . A homology model for LIAS protein was generated using X-ray crystallographic structure of Thermosynechococcus elogatsu. The active site of LIAS protein was mapped and docked with S-Adenosyl Methionine, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 444, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K873;C9JCF6;Q8IV62", "ec_number_list": [ { "id": "2.8.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.1.8", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0016992 lipoate synthase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006954 inflammatory response;GO:0006979 response to oxidative stress;GO:0032496 response to lipopolysaccharide;GO:0009249 protein lipoylation;GO:0009107 lipoate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "O43766-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ38-1", "uniprot_id": [ { "id": "ISK5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ38", "type": "external" } ], "mass": 120714.0, "length": 1064, "protein_name": "Serine protease inhibitor Kazal-type 5", "gene_name": "SPINK5", "organism": "Human", "refseq_name": "serine protease inhibitor Kazal-type 5 isoform a preproprotein", "refseq_ac": [ { "id": "NP_001121170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121170", "type": "external" } ], "gene_names_uniprotkb": "SPINK5", "gene_names_refseq": "LEKTI; LETKI; NETS; NS; SPINK5; VAKTI", "protein_names_uniprotkb": "Serine protease inhibitor Kazal-type 5; LEKTI; Lympho-epithelial Kazal-type-related inhibitor", "protein_names_refseq": "LEKTI isoform; lympho-epithelial Kazal-type-related inhibitor; lymphoepithelial Kazal-type-related inhibitor; serine protease inhibitor Kazal-type 5 isoform a preproprotein; serine protease inhibitor Kazal-type 5", "tax_id": 9606, "disease": "Netherton syndrome (Disease Ontology:DOID:0050474); childhood-onset asthma (Disease Ontology:DOID:0080815); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); asthma (Disease Ontology:DOID:2841); atopic dermatitis (Disease Ontology:DOID:3310); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520)", "pathway": " (hsa:11005); (R-HSA-6809371); (R-HSA-9725554)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10066784;10196183;10231017;10411887;10419450;10588656;10771479;10835624;11237011;11350120;11380615;11511292;11544479;11590230;11594460;12067728;12624109;12684009;12902340;15033990;15140226;15234001;15337775;15366933;15556625;15675955;15780751;15797384;15803139;16061697;16297201;16374478;16639001;17330888;17515931;17562024;17596512;18843291;19190773;19194479;19924134;20179351;20533828;20657595;20667819;20940292;21439340;21654840;21997417;22735594;23283814;23629652;24794495;25926655;26340985;26390218;29557506;30905808;31154438;31399284;32709676;32897882;34171305;36010968;37071303;38316920;38442944;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of the Tumor Suppressor Gene SPINK5 via EHMT2 Induces the Oral Squamous Cell Carcinoma Development., [RefSeq, PubMed]; Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants., [RefSeq, PubMed]; SPINK5 inhibits esophageal squamous cell carcinoma metastasis via immune activity., [RefSeq, PubMed]; Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense-activating and desquamation-involved proteases. Inhibits KLK5, its major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MYE8;B7WPB7;D6REN5;O75770;Q3LX95;Q3LX96;Q3LX97;Q96PP2;Q96PP3", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005938 cell cortex", "go_biological_process": "GO:0009913 epidermal cell differentiation;GO:0030154 cell differentiation;GO:0030198 extracellular matrix organization;GO:0030855 epithelial cell differentiation;GO:0045580 regulation of T cell differentiation", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9NQ38-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15535-1", "uniprot_id": [ { "id": "ZSC9_HUMAN", "url": "https://www.uniprot.org/uniprot/O15535", "type": "external" } ], "mass": 45954.0, "length": 394, "protein_name": "Zinc finger and SCAN domain-containing protein 9", "gene_name": "ZSCAN9", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 9 isoform 1", "refseq_ac": [ { "id": "NP_001186408", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186408", "type": "external" } ], "gene_names_uniprotkb": "ZSCAN9; PIG12; ZNF193", "gene_names_refseq": "PRD51; ZNF193; ZSCAN9", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 9; Cell proliferation-inducing gene 12 protein; PRD51; Zinc finger protein 193", "protein_names_refseq": "cell proliferation-inducing gene 12 protein; cell proliferation-inducing protein 12; zinc finger and SCAN domain-containing protein 9 isoform 1; zinc finger and SCAN domain-containing protein 9; zinc finger protein 193", "tax_id": 9606, "disease": "", "pathway": " (hsa:7746)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;24658003;26992070;27846572;28832583;29242379;29437277;29493099;30379171;31844290;32897882;32938616;33141586;33298915;33968037;36010968;9244436", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4E1W6;E7EVQ2;Q2TTR1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "O15535-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPH3-1", "uniprot_id": [ { "id": "IL1AP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPH3", "type": "external" } ], "mass": 65418.0, "length": 570, "protein_name": "Interleukin-1 receptor accessory protein", "gene_name": "IL1RAP", "organism": "Human", "refseq_name": "interleukin-1 receptor accessory protein isoform 1 precursor", "refseq_ac": [ { "id": "NP_001161400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161400", "type": "external" } ], "gene_names_uniprotkb": "IL1RAP; C3orf13; IL1R3", "gene_names_refseq": "C3orf13; IL-1RAcP; IL1R3; IL1RAP", "protein_names_uniprotkb": "Interleukin-1 receptor accessory protein; 3.2.2.6; IL-1 receptor accessory protein; IL-1R-3; IL-1R3; IL-1RAcP; Interleukin-1 receptor 3", "protein_names_refseq": "IL-1 receptor accessory protein; interleukin-1 receptor 3; interleukin-1 receptor accessory protein beta; interleukin-1 receptor accessory protein isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:3556)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10.1101/2023.09.13.557529;10653850;10799889;11237011;12530978;12659850;12781872;16075062;17949817;18669648;19481478;19690332;19836339;20068231;20802483;20805474;22723552;23186163;23479569;25595648;26992070;27543614;27600516;29242379;29391424;29557506;29741879;30315122;31844290;32157095;32350084;32488085;32938616;32983136;33968037;35051231;36215666;36226493;37074911;37382169;37700160;37981104;38563353;9371760;9479509;9862719", "class_list": "", "function": "Associates with secreted ligand-bound IL1R2 and increases the affinity of secreted IL1R2 for IL1B; this complex formation may be the dominant mechanism for neutralization of IL1B by secreted/soluble receptors (PubMed:12530978). Enhances the ability of secreted IL1R1 to inhibit IL-33 signaling (By similarity)., [UniProtKB, UniProtKB, PubMed]; CircCRIM1 mediates proliferation, migration, and invasion of trophoblast cell through regulating miR-942-5p/IL1RAP axis., [RefSeq, PubMed]; Constitutive photomorphogenic protein 1 ubiquitinates interleukin-1 receptor accessory protein in human liver cancer., [RefSeq, PubMed]; Coreceptor for IL1RL2 in the IL-36 signaling system (By similarity). Coreceptor with IL1R1 in the IL-1 signaling system. Associates with IL1R1 bound to IL1B to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Recruits TOLLIP to the signaling complex. Does not bind to interleukin-1 alone; binding of IL1RN to IL1R1, prevents its association with IL1R1 to form a signaling complex. The cellular response is modulated through a non-signaling association with the membrane IL1R2 decoy receptor. Coreceptor for IL1RL1 in the IL-33 signaling system. Can bidirectionally induce pre- and postsynaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity). May play a role in IL1B-mediated costimulation of IFNG production from T-helper 1 (Th1) cells (Probable)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; IL1RAP is expressed in several subtypes of pediatric acute lymphoblastic leukemia and can be used as a target to eliminate ETV6::RUNX1-positive leukemia cells in preclinical models. Publication Status: Online-Only, [RefSeq, PubMed]; Interleukin-1 receptor accessory protein (IL-1RAP): A magic bullet candidate for immunotherapy of human malignancies. Review article, [RefSeq, PubMed]; Interleukin-1 receptor accessory protein blockade limits the development of atherosclerosis and reduces plaque inflammation., [RefSeq, PubMed]; This gene encodes a component of the interleukin 1 receptor complex, which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in membrane-bound and soluble isoforms differing in their C-terminus. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Jul 2018]., [RefSeq]; Unable to mediate canonical IL-1 signaling (PubMed:19481478). Required for Src phosphorylation by IL1B. May be involved in IL1B-potentiated NMDA-induced calcium influx in neurons (By similarity)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 20, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B1NLD0;D3DNW0;O14915;Q86WJ7", "ec_number_list": [ { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.4.99.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.20", "type": "external" }, { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" } ], "go_molecular_function": "GO:0002114 interleukin-33 receptor activity;GO:0015026 coreceptor activity;GO:0004908 interleukin-1 receptor activity;GO:0061809 NAD+ nucleosidase activity, cyclic ADP-ribose generating", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0032736 positive regulation of interleukin-13 production;GO:0032754 positive regulation of interleukin-5 production;GO:0070498 interleukin-1-mediated signaling pathway;GO:2000660 negative regulation of interleukin-1-mediated signaling pathway;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9NPH3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H665-1", "uniprot_id": [ { "id": "IGFR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H665", "type": "external" } ], "mass": 37895.0, "length": 355, "protein_name": "IGF-like family receptor 1", "gene_name": "IGFLR1", "organism": "Human", "refseq_name": "IGF-like family receptor 1 isoform c precursor", "refseq_ac": [ { "id": "NP_001332933", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001332933", "type": "external" } ], "gene_names_uniprotkb": "IGFLR1; TMEM149; U2AF1L4", "gene_names_refseq": "IGFLR1; TMEM149", "protein_names_uniprotkb": "IGF-like family receptor 1; Transmembrane protein 149; U2 small nuclear RNA auxiliary factor 1-like 4", "protein_names_refseq": "IGF-like family receptor 1 isoform c precursor; transmembrane protein 149", "tax_id": 9606, "disease": "", "pathway": " (hsa:79713)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;21454693;24714562;25502872;25576301;26728094;26811146;26992070;27846572;27862975;28467828;29242379;29493099;31217245;31844290;32157095;32350084;32357974;32983136;33123756;33298915;33912179;33936100;33968037;34185709;35051231", "class_list": "", "function": "Murine insulin growth factor-like (IGFL) and human IGFL1 proteins are induced in inflammatory skin conditions and bind to a novel tumor necrosis factor receptor family member, IGFLR1., [RefSeq, PubMed]; Probable cell membrane receptor for the IGF-like family proteins. Binds IGFL1 and IGFL3 with a higher affinity. May also bind IGFL2., [UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8N5X0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9H665-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43300-1", "uniprot_id": [ { "id": "LRRT2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43300", "type": "external" } ], "mass": 59076.0, "length": 516, "protein_name": "Leucine-rich repeat transmembrane neuronal protein 2", "gene_name": "LRRTM2", "organism": "Human", "refseq_name": "leucine-rich repeat transmembrane neuronal protein 2 precursor", "refseq_ac": [ { "id": "NP_056379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056379", "type": "external" } ], "gene_names_uniprotkb": "LRRTM2; KIAA0416; LRRN2", "gene_names_refseq": "LRRTM2", "protein_names_uniprotkb": "Leucine-rich repeat transmembrane neuronal protein 2; Leucine-rich repeat neuronal 2 protein", "protein_names_refseq": "leucine-rich repeat neuronal 2 protein; leucine-rich repeat transmembrane neuronal 2 protein; leucine-rich repeat transmembrane neuronal protein 2 precursor; leucine-rich repeat transmembrane neuronal protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:26045); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11237011;11604393;12676565;15540461;16242404;16624946;16846852;17897391;18812509;18829961;19240791;20064387;20064388;20519524;21282647;21708131;25378172;30262834;32157095;32387766;35051231;7695896;7736595;8576240;9069287;9808458;9927700", "class_list": "", "function": "CTNNA1 and CTNNA2 contain alternative 5' exons linked to bidirectional promoters that are shared with the antisense oriented LRRTM2 and LRRTM1 genes, respectively., [RefSeq, PubMed]; Involved in the development and maintenance of excitatory synapses in the vertebrate nervous system. Regulates surface expression of AMPA receptors and instructs the development of functional glutamate release sites. Acts as a ligand for the presynaptic receptors NRXN1-A and NRXN1-B (By similarity)., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Nrxn1beta-LRRTM2 interface involves Ca(2+)-mediated interactions and overlaps with the Nrxn-neuroligin interface. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A0AVL3;A8K4U9;B7ZLN8;Q7L770", "ec_number_list": [], "go_molecular_function": "GO:0042043 neurexin family protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005615 extracellular space;GO:0060076 excitatory synapse;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0099151 regulation of postsynaptic density assembly", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "O43300-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VVH5-1", "uniprot_id": [ { "id": "IKBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VVH5", "type": "external" } ], "mass": 29106.0, "length": 260, "protein_name": "Interleukin-1 receptor-associated kinase 1-binding protein 1", "gene_name": "IRAK1BP1", "organism": "Human", "refseq_name": "interleukin-1 receptor-associated kinase 1-binding protein 1", "refseq_ac": [ { "id": "NP_001010844", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010844", "type": "external" } ], "gene_names_uniprotkb": "IRAK1BP1", "gene_names_refseq": "AIP70; IRAK1BP1; SIMPL", "protein_names_uniprotkb": "Interleukin-1 receptor-associated kinase 1-binding protein 1; IRAK1-binding protein 1", "protein_names_refseq": "ActA binding protein 3; IRAK1-binding protein 1; interleukin-1 receptor-associated kinase 1-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:134728)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11096118;11237011;17079333;23481700;25418920;25892735;26992070;28218747;28228285;28832583;29242379;29437277;29769354;31154438;31217245;31844290;33912179", "class_list": "", "function": "Component of the IRAK1-dependent TNFRSF1A signaling pathway that leads to NF-kappa-B activation and is required for cell survival. Acts by enhancing RELA transcriptional activity (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Together, these studies reveal that phosphorylation of the SIMPL protein plays a critical role in SIMPL regulation by affecting both SIMPL subcellular localization and the p65 coactivator function of SIMPL., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006955 immune response;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q5VVH5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56470-1", "uniprot_id": [ { "id": "LEG4_HUMAN", "url": "https://www.uniprot.org/uniprot/P56470", "type": "external" } ], "mass": 35941.0, "length": 323, "protein_name": "Galectin-4", "gene_name": "LGALS4", "organism": "Human", "refseq_name": "galectin-4", "refseq_ac": [ { "id": "NP_006140", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006140", "type": "external" } ], "gene_names_uniprotkb": "LGALS4", "gene_names_refseq": "GAL4; L36LBP; LGALS4", "protein_names_uniprotkb": "Galectin-4; Antigen NY-CO-27; Gal-4; L-36 lactose-binding protein; L36LBP; Lactose-binding lectin 4", "protein_names_refseq": "L-36 lactose-binding protein; antigen NY-CO-27; gal-4; galectin-4; lactose-binding lectin 4; lectin, galactoside-binding, soluble, 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:3960)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;11971864;15489334;15546874;26077389;26432949;26828567;26992070;27642006;27862975;29393594;29557506;29789417;30315122;31154438;31558111;31678146;31844290;31848261;32296183;33016205;33381596;34185709;35580925;36529516;36695981;36932875;37074911;37569679;39163480;40735388;8063692;9162064;9310382", "class_list": "glycogene", "function": "Enhancement of Vivid-based photo-activatable Gal4 transcription factor in mammalian cells., [RefSeq, PubMed]; Galectin that binds lactose and a related range of sugars. May be involved in the assembly of adherens junctions., [UniProtKB]; Galectin-4 Is Involved in the Structural Changes of Glycosphingolipid Glycans in Poorly Differentiated Gastric Cancer Cells with High Metastatic Potential. Publication Status: Online-Only, [RefSeq, PubMed]; High expression of B3GALT5 suppresses the galectin-4-mediated peritoneal dissemination of poorly differentiated gastric cancer cells., [RefSeq, PubMed]; Multifaceted role of galectin-4 in cancer: A systematic review., [RefSeq, PubMed]; Results suggest that galectin-4 has a unique carbohydrate binding specificity and interacts with O-linked sulfoglycans, [RefSeq, PubMed]; SB1a and CEA in the patches on the cell surface of human colon adenocarcinoma cells could be biologically important ligands for galectin-4, [RefSeq, PubMed]; Suppression of galectin-4 attenuates peritoneal metastasis of poorly differentiated gastric cancer cells., [RefSeq, PubMed]; The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The expression of this gene is restricted to small intestine, colon, and rectum, and it is underexpressed in colorectal cancer. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 397, "reported_interactions": 0, "missing_score": 9718, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0016936 galactoside binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P56470-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75610-1", "uniprot_id": [ { "id": "LFTY1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75610", "type": "external" } ], "mass": 40880.0, "length": 366, "protein_name": "Left-right determination factor 1", "gene_name": "LEFTY1", "organism": "Human", "refseq_name": "left-right determination factor 1 preproprotein", "refseq_ac": [ { "id": "NP_066277", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066277", "type": "external" } ], "gene_names_uniprotkb": "LEFTY1; LEFTB; LEFTYB; PRO317", "gene_names_refseq": "LEFTB; LEFTY1; LEFTYB", "protein_names_uniprotkb": "Left-right determination factor 1; Left-right determination factor B; Protein lefty-1; Protein lefty-B", "protein_names_refseq": "left-right determination factor 1 preproprotein; left-right determination factor B; protein lefty-1; protein lefty-B", "tax_id": 9606, "disease": "", "pathway": " (hsa:10637); (R-HSA-1181150); (R-HSA-1433617)", "pathway_count": 3, "publication_count": 41, "publication_id_list": "10053005;10067895;10473623;10822381;10934479;11024047;11294908;11389842;11485994;11779503;11779505;12063393;12592392;12975309;14978253;15062104;15150278;15308665;15350224;15485907;15531507;16260601;17038673;17272273;19114992;20694664;21356369;21383881;21532621;25603319;32022949;33111989;33141586;34680872;35494241;37097539;8878477;9288972;9311995;9670020;9702198", "class_list": "", "function": "Association of maternal hypertension and diabetes with variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital heart defects: a case-control study from Pakistani Population., [RefSeq, PubMed]; Expression of Cytokine-Coding Genes BMP8B, LEFTY1 and INSL5 Could Distinguish between Ulcerative Colitis and Crohn's Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of Lefty predicts Merkel cell carcinoma-specific death., [RefSeq, PubMed]; LEFTY proteins, which are known to play a major role during mouse gastrulation, are transiently expressed during human embryonic stem cell differentiation., [RefSeq, PubMed]; Nodal and the inhibitors of Nodal signaling, lefty-A and lefty-B, are down-regulated very early upon differentiation of human embryonic stem cells, [RefSeq, PubMed]; Required for left-right axis determination as a regulator of LEFTY2 and NODAL., [UniProtKB]; Requirements of LEFTY and Nodal overexpression for tumor cell survival under hypoxia in glioblastoma., [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. This gene is closely linked to both a related family member and a related pseudogene. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R7U0;Q53H67;Q5TE94", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0005160 transforming growth factor beta receptor binding;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007179 transforming growth factor beta receptor signaling pathway;GO:0003007 heart morphogenesis;GO:0030509 BMP signaling pathway;GO:0007368 determination of left/right symmetry", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "O75610-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9Y4-1", "uniprot_id": [ { "id": "GPN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9Y4", "type": "external" } ], "mass": 34561.0, "length": 310, "protein_name": "GPN-loop GTPase 2", "gene_name": "GPN2", "organism": "Human", "refseq_name": "GPN-loop GTPase 2", "refseq_ac": [ { "id": "NP_060536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060536", "type": "external" } ], "gene_names_uniprotkb": "GPN2; ATPBD1B; PRO19647", "gene_names_refseq": "ATPBD1B; GPN2", "protein_names_uniprotkb": "GPN-loop GTPase 2; 3.6.5.-; ATP-binding domain 1 family member B", "protein_names_refseq": "ATP-binding domain 1 family member B; GPN-loop GTPase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54707)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;12975309;16533400;18991276;20864038;22223895;24366607;24715725;25645385;25880248;26375851;26992070;27600516;27862975;28228285;28832583;29242379;29557506;30315122;30429286;30524438;30779550;31154438;31217245;31844290;32157095;32161166;32357974;32387766;32488085;32502341;32938616;33298915;33592498;33691108;33912179;33968037;33981976;34185709;34357683;34932366;35051231;36010968;36241641", "class_list": "", "function": "Small GTPase involved in the correct assembly of RNA polymerase RNA polymerase II and III (RNAPII and RNAPIII) complexes, ensuring their proper nuclear import., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96HG4;Q9NUE1;Q9NW30", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9H9Y4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAD2-1", "uniprot_id": [ { "id": "IL17D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAD2", "type": "external" } ], "mass": 21893.0, "length": 202, "protein_name": "Interleukin-17D", "gene_name": "IL17D", "organism": "Human", "refseq_name": "interleukin-17D isoform c precursor", "refseq_ac": [ { "id": "NP_612141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612141", "type": "external" } ], "gene_names_uniprotkb": "IL17D; PRO21175", "gene_names_refseq": "IL-17D; IL17D", "protein_names_uniprotkb": "Interleukin-17D; IL-17D; IL-27; Interleukin-27", "protein_names_refseq": "interleukin-17D isoform c precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:53342)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12097364;12975309;20237496;22156348;23490420;28685546;34023435;35939336;37708335", "class_list": "", "function": "IL-17D stimulates production of cytokines in endothelial cells in vitro and suppresses proliferation of myeloid progenitors in colony formation assays., [RefSeq, PubMed]; IL-27 priming results in enhanced lipopolysaccharide-induced IL-6, tumor necrosis factor (TNF)-alpha, macrophage inflammatory protein (MIP)-1alpha, and MIP-1beta expression in human primary monocytes., [RefSeq, PubMed]; Induces expression of IL6, CXCL8/IL8, and CSF2/GM-CSF from endothelial cells., [UniProtKB, PubMed]; Interleukin-17D produced by alveolar epithelial type II cells alleviates LPS-induced acute lung injury via the Nrf2 pathway., [RefSeq, PubMed]; Interleukin-17D promotes lung cancer progression by inducing tumor-associated macrophage infiltration via the p38 MAPK signaling pathway., [RefSeq, PubMed]; Nuclear factor erythroid 2-related factor 2 potentiates the generation of inflammatory cytokines by intestinal epithelial cells during hyperoxia by inducing the expression of interleukin 17D., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Study of the expression of IL-17 provides theoretical support for the clinical treatment and prognosis prediction of ovarian epithelial tumor., [RefSeq, PubMed]; The protein encoded by this gene is a cytokine that shares the sequence similarity with IL17. The treatment of endothelial cells with this cytokine has been shown to stimulate the production of other cytokines including IL6, IL8 and CSF2/ GM-CSF. The increased expression of IL8 induced by this cytokine was found to be NF-kappa B-dependent. [provided by RefSeq, Jul 2008]., [RefSeq]; These experiments were designed to investigate the effects of IL-17 upon the phenotype and function of human Natural Killer (NK) cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B1AM69", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0005125 cytokine activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006954 inflammatory response;GO:0032755 positive regulation of interleukin-6 production;GO:0032757 positive regulation of interleukin-8 production;GO:0032725 positive regulation of granulocyte macrophage colony-stimulating factor production;GO:1900017 positive regulation of cytokine production involved in inflammatory response", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8TAD2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2S9-1", "uniprot_id": [ { "id": "IKZF4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2S9", "type": "external" } ], "mass": 64106.0, "length": 585, "protein_name": "Zinc finger protein Eos", "gene_name": "IKZF4", "organism": "Human", "refseq_name": "zinc finger protein Eos isoform a", "refseq_ac": [ { "id": "NP_071910", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071910", "type": "external" } ], "gene_names_uniprotkb": "IKZF4; KIAA1782; ZNFN1A4", "gene_names_refseq": "EOS; IKZF4; ZNFN1A4", "protein_names_uniprotkb": "Zinc finger protein Eos; Ikaros family zinc finger protein 4", "protein_names_refseq": "ikaros family zinc finger protein 4; zinc finger protein Eos isoform a; zinc finger protein Eos; zinc finger protein, subfamily 1A, 4 (Eos); zinc finger transcription factor Eos", "tax_id": 9606, "disease": "encephalomyelitis (Disease Ontology:DOID:640)", "pathway": " (hsa:64375)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10978333;11237011;12015313;12444977;19651622;27920218;28228285;28832583;29242379;29371260;31154438;31844290;32897882;33981976;34448034;35051231;36241641;37044192;38211652;38330583", "class_list": "", "function": "Association analysis of the IKZF4 gene with Alopecia Areata in the Chinese Han population., [RefSeq, PubMed]; DNA-binding protein that binds to the 5'GGGAATRCC-3' Ikaros-binding sequence. Transcriptional repressor. Interacts with SPI1 and MITF to repress transcription of the CTSK and ACP5 promoters via recruitment of corepressors SIN3A and CTBP2. May be involved in the development of central and peripheral nervous systems. Essential for the inhibitory function of regulatory T-cells (Treg). Mediates FOXP3-mediated gene silencing in regulatory T-cells (Treg) via recruitment of corepressor CTBP1 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Genetic variation at ERBB3/IKZF4 and sexual dimorphism in epitope spreading in single autoantibody-positive relatives., [RefSeq, PubMed]; IKZF4 acts as a novel tumor suppressor in non-small cell lung cancer by suppressing Notch signaling pathway., [RefSeq, PubMed]; IKZF4/NONO-RAB11FIP3 axis promotes immune evasion in gastric cancer via facilitating PD-L1 endosome recycling., [RefSeq, PubMed]; Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96JP3", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0019904 protein domain specific binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0043425 bHLH transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0051260 protein homooligomerization;GO:0045892 negative regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9H2S9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NU53-1", "uniprot_id": [ { "id": "GINM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NU53", "type": "external" } ], "mass": 36840.0, "length": 330, "protein_name": "Glycoprotein integral membrane protein 1", "gene_name": "GINM1", "organism": "Human", "refseq_name": "glycoprotein integral membrane protein 1 precursor", "refseq_ac": [ { "id": "NP_620140", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620140", "type": "external" } ], "gene_names_uniprotkb": "GINM1; C6orf72; PRO1361", "gene_names_refseq": "C6orf72; GINM1", "protein_names_uniprotkb": "Glycoprotein integral membrane protein 1", "protein_names_refseq": "glycoprotein integral membrane 1; glycoprotein integral membrane protein 1 precursor; glycoprotein integral membrane protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:116254)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;12975309;22299025;23584533;23719902;24190977;25102056;25502872;26992070;27846572;27920218;28218747;28904123;29242379;29314611;29331515;29437277;29557506;29632711;30315122;30429286;30459171;30626607;31020640;31530632;31611695;31844290;31848261;32157095;32350084;32387766;32983136;33043033;33298915;33592498;33912179;33936100;33968037;34357683;34433824;34561969;34932366;35051231;35154160;35251023;36215666;37074911;37938771", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "B2RDY7;E1P5A2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9NU53-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15814-1", "uniprot_id": [ { "id": "IGLL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P15814", "type": "external" } ], "mass": 22963.0, "length": 213, "protein_name": "Immunoglobulin lambda-like polypeptide 1", "gene_name": "IGLL1", "organism": "Human", "refseq_name": "immunoglobulin lambda-like polypeptide 1 isoform a precursor", "refseq_ac": [ { "id": "NP_064455", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064455", "type": "external" } ], "gene_names_uniprotkb": "IGLL1; IGL1", "gene_names_refseq": "14.1; AGM2; CD179b; IGL1; IGL5; IGLJ14.1; IGLL1; IGLL; IGO; IGVPB; VPREB2", "protein_names_uniprotkb": "Immunoglobulin lambda-like polypeptide 1; CD179 antigen-like family member B; Ig lambda-5; Immunoglobulin omega polypeptide; Immunoglobulin-related protein 14.1", "protein_names_refseq": "CD179 antigen-like family member B; CD179b antigen; Pre-B lymphocyte-specific protein-2; ig lambda-5; immunoglobulin lambda-like polypeptide 1 isoform a precursor; immunoglobulin omega polypeptide chain; immunoglobulin-related 14.1 protein; immunoglobulin-related protein 14.1; lambda5", "tax_id": 9606, "disease": "agammaglobulinemia 2 (Disease Ontology:DOID:0081135)", "pathway": " (hsa:3543); (R-HSA-202733)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10606205;10764623;11207550;11237011;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12782713;14529530;14615387;15000751;15528364;15681301;15721307;1591491;16258728;16297198;16585556;16691243;16737840;16783819;1703205;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17431183;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18477386;19279206;20068231;21193412;2128466;21659548;22299025;23124203;23945545;24043627;24764293;2501791;2538457;25576301;26992070;27576013;27611867;29314611;29508533;29557506;3003227;30459171;30524438;31844290;32897882;33091337;34371177;35051231;35154160;38253038;40307207;468991;7509040;7521878;8163559;8166770;8314844;9052782;9169774;9242610;9295288;9382878;9419212;9693095;9763524", "class_list": "", "function": "Critical for B-cell development., [UniProtKB, PubMed]; Hhydrophobic residues from the lambda5-UR is crucial for the interaction with GAL1 and for pre-BCR clustering., [RefSeq, PubMed]; In autosomal recessive agammaglobulinemia a homozygous missense mutation at codon 142 (CCG>with CTG) resulting in a Pro>Leu substitution was identified in exon 3 of the IGLL1 gene; 2 additional silent homozygous substitutions were identified at codons 131 (T>C) and 140 (T>C); sequencing also revealed 2 homozygous single-nucleotide polymorphisms in the noncoding region of exon 3, [RefSeq, PubMed]; Irrespective of subtype, Acute Lymphoblastic Leukemia with high levels of IGHM, IGLL1 and VPREB1 are arrested at the pre-B stage and correlate with good prognosis in high-risk pediatric B-cell precursor acute lymphoblastic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q0P681", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0071735 IgG immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P15814-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TDP6-1", "uniprot_id": [ { "id": "LGSN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TDP6", "type": "external" } ], "mass": 57278.0, "length": 509, "protein_name": "Lengsin", "gene_name": "LGSN", "organism": "Human", "refseq_name": "lengsin isoform b", "refseq_ac": [ { "id": "NP_001137412", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137412", "type": "external" } ], "gene_names_uniprotkb": "LGSN; GLULD1; LGS", "gene_names_refseq": "GLULD1; LGSN; LGS", "protein_names_uniprotkb": "Lengsin; Glutamate-ammonia ligase domain-containing protein 1; Lens glutamine synthase-like", "protein_names_refseq": "glutamate-ammonia ligase (glutamine synthase) domain containing 1; glutamate-ammonia ligase domain-containing protein 1; lengsin isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:51557)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12107413;17010935;17161372;19459848;21621269;29242379;35051231;35494241;36768214", "class_list": "", "function": "A potential chaperone-like role of Lengsin was investigated., [RefSeq, PubMed]; In major depressive disorder genome-wide association study, best male-specific SNP was rs9362774 within LGSN gene, [RefSeq, PubMed]; Lengsin belongs to the predominantly prokaryotic class 1 branch of glutamine synthetases but has lost enzyme activity, [RefSeq, PubMed]; Lengsin is major novel protein of the vertebrate eye lens. Publication Status: Online-Only, [RefSeq, PubMed]; May act as a component of the cytoskeleton or as a chaperone for the reorganization of intermediate filament proteins during terminal differentiation in the lens. Does not seem to have enzymatic activity (By similarity)., [UniProtKB]; Novel spliced form of a lens protein as a novel lung cancer antigen, Lengsin splicing variant 4, is reported., [RefSeq, PubMed]; This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L421;Q0PVN9;Q0PVP0;Q9NYJ0", "ec_number_list": [], "go_molecular_function": "GO:0003824 catalytic activity;GO:0004356 glutamine synthetase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006542 glutamine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q5TDP6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49641-3", "uniprot_id": [ { "id": "MA2A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P49641", "type": "external" } ], "mass": 130539.0, "length": 1150, "protein_name": "Alpha-mannosidase 2x", "gene_name": "MAN2A2", "organism": "Human", "refseq_name": "alpha-mannosidase 2x isoform 1", "refseq_ac": [ { "id": "NP_006113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006113", "type": "external" } ], "gene_names_uniprotkb": "MAN2A2; MANA2X", "gene_names_refseq": "MAN2A2; MANA2X; alpha-MIIx", "protein_names_uniprotkb": "Alpha-mannosidase 2x; 3.2.1.114; Alpha-mannosidase IIx; Man IIx; Mannosidase alpha class 2A member 2; Mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase", "protein_names_refseq": "MAN IIx; alpha-mannosidase 2x isoform 1; alpha-mannosidase 2x; alpha-mannosidase IIx; mannosidase, alpha type II-X; mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase; manosidase, alpha-, type II, isozyme X", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:4122); (R-HSA-6811438); (R-HSA-975578)", "pathway_count": 3, "publication_count": 98, "publication_id_list": "10.1101/2023.09.13.557529;10094192;10189370;10343104;10464296;10652308;10652516;10814706;10988300;11445554;11718716;11748249;12011112;12383348;12417412;12429822;14759258;15504911;15718469;15728195;15758030;16754854;17175120;17274799;17466984;18086915;18256213;18431515;18451304;19164740;19536132;19715559;20163571;20874812;21807881;22013193;22188167;23090970;23091056;23239882;23378023;23462996;23839779;23936529;23940353;24119662;24190977;24715725;25576301;25645385;25708460;25880248;27862975;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29314611;29317506;29351928;29393594;29557506;29632711;29786170;30315122;30459171;31020640;31217245;31611695;31844290;32350084;32357974;32387766;33141432;33392160;33981976;34357683;36284347;36357165;37074911;38665916;7635144;7650030;8524845;8636227;8808595;8945478;9244307;9476900;9478973;9510256;9653114;9707577;9915833;9949196", "class_list": "glycogene;glycosylhydrolase", "function": "Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway., [UniProtKB]; High glucose-ROS conditions enhance the progression in cholangiocarcinoma via upregulation of MAN2A2 and CHD8., [RefSeq, PubMed]; Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1359, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NH12;A8K1E8;Q13754", "ec_number_list": [ { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.113", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.113", "type": "external" }, { "id": "3.2.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.114", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0004559 alpha-mannosidase activity;GO:0016799 hydrolase activity, hydrolyzing N-glycosyl compounds;GO:0004572 mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0006491 N-glycan processing;GO:0006013 mannose metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "P49641-3", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010000.101.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15230-1", "uniprot_id": [ { "id": "LAMA5_HUMAN", "url": "https://www.uniprot.org/uniprot/O15230", "type": "external" } ], "mass": 399737.0, "length": 3695, "protein_name": "Laminin subunit alpha-5", "gene_name": "LAMA5", "organism": "Human", "refseq_name": "laminin subunit alpha-5 precursor", "refseq_ac": [ { "id": "NP_005551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005551", "type": "external" } ], "gene_names_uniprotkb": "LAMA5; KIAA0533; KIAA1907", "gene_names_refseq": "BBDS2; LAMA5; NPHS26", "protein_names_uniprotkb": "Laminin subunit alpha-5; Laminin-10 subunit alpha; Laminin-11 subunit alpha; Laminin-15 subunit alpha", "protein_names_refseq": "laminin alpha-5 chain; laminin alpha5-chain; laminin subunit alpha-5 precursor; laminin-10 subunit alpha; laminin-11 subunit alpha; laminin-15 subunit alpha", "tax_id": 9606, "disease": "bent bone dysplasia syndrome 2 (Disease Ontology:DOID:0060993); nephrotic syndrome type 26 (Disease Ontology:DOID:0061193); familial nephrotic syndrome (Disease Ontology:DOID:2590); cystic kidney disease (Disease Ontology:DOID:2975)", "pathway": " (hsa:3911); (R-HSA-1474228); (R-HSA-3000157); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-6785807); (R-HSA-8874081); (R-HSA-9638630); (R-HSA-9913351); (R-HSA-9925563)", "pathway_count": 10, "publication_count": 319, "publication_id_list": "10.1007/s00018-021-03863-1;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10022829;10023775;10189375;10219247;10229672;10339611;10369418;10386589;10441321;10510379;10521801;10545507;10586089;10673326;10706100;10809722;10867011;10893187;10932245;10942431;10964957;10986281;11054877;11058569;11084045;11084047;11104795;11120780;11237011;11259413;11278437;11278729;11352924;11356008;11375993;11404481;11430802;11463377;11495720;11739641;11821406;11847221;11872628;11960372;11964076;12189167;12223527;12225811;12237301;12242343;12600988;12727852;12832402;12843408;1319059;1376317;14634100;14712222;14715956;14973287;15075323;15116091;15175026;15234972;15261459;15296743;1544908;15584925;15591058;15805299;15869882;15950906;15958533;16007214;16048438;16107692;16133547;16205632;16236134;16293224;16397018;16413178;16451196;16493581;1649600;16510571;16524571;16540365;16581764;16606674;16631740;16782899;16806867;16825321;1698775;1707285;17332331;17354228;17427945;17458857;17572495;17574028;17588949;17608959;17905726;18243101;18353781;18434311;18447642;18644974;18658137;18764929;19010778;19124156;19159218;19185846;19346169;19397496;19571574;19657146;19714641;19946898;20044576;20068231;20142769;20493732;2059554;20802513;21030783;21102457;21252155;21297635;21441952;21642437;21670566;21689689;21730069;21784848;21789315;21864727;21937440;21994466;22046235;22134916;22159078;22159414;22205702;22223806;22383755;22493504;22693070;22851691;23035980;23086340;23090970;23124025;23172665;23271734;23455323;23481700;23555662;2364322;23845380;23967200;24097101;2412224;24190977;2420006;2430969;24480479;24715725;24743777;25234944;25576301;25813380;26992070;27397612;27846572;27862975;28657654;28834231;28855257;28879238;28904123;29242379;29331515;29393594;29534211;29557506;29632711;29741879;29786170;29789417;30429286;30459171;30484775;30524438;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32350084;32439764;32488085;32502341;3282674;32938616;33242826;33537174;33592498;33968037;33981976;34019948;34087483;34089345;34171305;34185709;34561969;35008625;35051231;35251023;35318648;35419533;35580925;35993299;36010968;36173685;36215666;36228153;36241641;36284347;37074911;37217939;37340703;37938771;38154529;39302247;39534244;3997977;6193777;6439184;7075587;7499434;7509446;7510216;7512451;7527058;7527495;7529288;7542669;7547873;7547961;7559467;7592992;7685013;7693733;7795521;7796300;7844150;7852349;7898939;7907877;7925941;8002934;8043271;8054685;8085155;8226919;8268918;8349731;8440685;8576247;8602263;8607994;8621622;8626565;8627307;8663118;8668165;8797861;8798547;8798654;8816495;8845841;8943283;9013879;9065415;9115292;9148753;9214383;9245798;9252349;9271224;9294172;9341124;9346959;9405466;9412493;9417118;9461298;9645947;9651359;9652404;9659899;9659900;9685393;9723655;9736340;9822675;9852107;9864373;9874564;9949188", "class_list": "", "function": "A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects. Publication Status: Online-Only, [RefSeq, PubMed]; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Plays a role in the regulation of skeletogenesis, through a mechanism that involves integrin-mediated signaling and PTK2B/PYK2 (PubMed:33242826)., [UniProtKB, PubMed]; Cancer-Associated Fibroblast Induces Acinar-to-Ductal Cell Transdifferentiation and Pancreatic Cancer Initiation Via LAMA5/ITGA4 Axis., [RefSeq, PubMed]; Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Laminin 511 and WNT signalling sustain prolonged expansion of hiPSC-derived hippocampal progenitors., [RefSeq, PubMed]; Regulation and Function of Laminin A5 during Mouse and Human Decidualization. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 8, "predicted_n_glycosites": 4, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 21, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 19, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 21, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 21, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 167, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 159, "disease_count": 4, "glyco_site_count": 41, "binding_glycan_count": 0, "secondary_ac_list": "Q5U4N9;Q8TDF8;Q8WZA7;Q9H1P1", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0048018 receptor ligand activity;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway;GO:0016477 cell migration;GO:0030155 regulation of cell adhesion;GO:0034446 substrate adhesion-dependent cell spreading", "synthesized_glycan_count": 0, "hit_score": 51.2, "record_id": "O15230-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11215-1", "uniprot_id": [ { "id": "ITAM_HUMAN", "url": "https://www.uniprot.org/uniprot/P11215", "type": "external" } ], "mass": 127179.0, "length": 1152, "protein_name": "Integrin alpha-M", "gene_name": "ITGAM", "organism": "Human", "refseq_name": "integrin alpha-M isoform 2 precursor", "refseq_ac": [ { "id": "NP_000623", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000623", "type": "external" } ], "gene_names_uniprotkb": "ITGAM; CD11B; CR3A", "gene_names_refseq": "CD11B; CR3A; HNA-4; ITGAM; MAC-1; MAC1A; MO1A; SLEB6", "protein_names_uniprotkb": "Integrin alpha-M; CD11 antigen-like family member B; CR-3 alpha chain; Cell surface glycoprotein MAC-1 subunit alpha; Leukocyte adhesion receptor MO1; Neutrophil adherence receptor", "protein_names_refseq": "CD11 antigen-like family member B; CR-3 alpha chain; antigen CD11b (p170); cell surface glycoprotein MAC-1 subunit alpha; human neutrophil antigen 4; integrin alpha-M isoform 2 precursor; integrin alpha-M; integrin, alpha M (complement component 3 receptor 3 subunit); leukocyte adhesion receptor MO1; macrophage antigen alpha polypeptide; macrophage-1 antigen alpha subunit; neutrophil adherence receptor alpha-M subunit", "tax_id": 9606, "disease": "limb ischemia (Disease Ontology:DOID:0050852); stroke (Disease Ontology:DOID:0051061); atrial fibrillation (Disease Ontology:DOID:0060224); thrombosis (Disease Ontology:DOID:0060903); lupus nephritis (Disease Ontology:DOID:0080162); pre-eclampsia (Disease Ontology:DOID:10591); familial hyperlipidemia (Disease Ontology:DOID:1168); diabetic angiopathy (Disease Ontology:DOID:11713); neutropenia (Disease Ontology:DOID:1227); persistent fetal circulation syndrome (Disease Ontology:DOID:13042); Behcet's disease (Disease Ontology:DOID:13241); atherosclerosis (Disease Ontology:DOID:1936); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); cerebral infarction (Disease Ontology:DOID:3526); hyperglycemia (Disease Ontology:DOID:4195); mesangial proliferative glomerulonephritis (Disease Ontology:DOID:4783); abdominal aortic aneurysm (Disease Ontology:DOID:7693); intermediate coronary syndrome (Disease Ontology:DOID:8805); diabetic retinopathy (Disease Ontology:DOID:8947); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute myocardial infarction (Disease Ontology:DOID:9408); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3684); (R-HSA-166016); (R-HSA-202733); (R-HSA-216083); (R-HSA-6785807); (R-HSA-6798695)", "pathway_count": 6, "publication_count": 310, "publication_id_list": "10.1101/2023.09.13.557529;10023775;10201950;10209034;10219247;10366422;10369418;10438935;10510379;10543983;10586089;10593924;10605720;10606205;10640428;10673366;10713152;10764623;10811134;10867011;10982388;11058569;11084045;11104795;11120780;11158588;11207550;11237011;11256994;11274165;11278437;11278729;11356008;11404481;11463377;11518510;11564780;11572855;11713259;11779189;11812992;11960372;11980922;12070135;12208882;12223527;12242343;12469115;12471095;12496264;12585966;12600988;12682293;12782713;12807887;12832402;1346576;14529530;14556004;14615387;14634100;14712222;15000751;15116091;15194813;15240572;15261459;15276183;15330449;15345499;15383545;15528364;15584925;15596121;15681301;15713743;15721307;15805299;15869882;1588291;15899827;1591491;15950906;16002701;16007214;16048438;16051604;16107692;16205632;16236134;16239428;16258728;16297198;16303959;16397018;16451196;16467847;16510571;16540365;16585556;16606674;16691243;16731529;16737840;16751103;16754661;16757566;16783819;1683702;16933105;17064312;17099249;17116209;17167768;17172599;17322099;17339034;17379836;17427945;17442946;17452516;17458857;17505016;17525755;17563375;17572495;17580308;17600130;17615384;17625065;17968485;18204446;18204448;18222170;18233961;18243101;18297073;18353781;18447642;18644974;18710925;18775695;19124156;19159218;19185846;19279206;19397496;19502598;19664994;1980124;20008295;20033473;2010551;20493732;20705068;21102457;21193407;21193412;21252155;21659548;21689689;21730069;21937440;21994466;22046235;22078883;22158869;22205702;22383755;22539938;22693070;22851691;22884367;23086340;23124025;23172665;23374253;23455323;23481700;23555662;23650620;23719902;23945545;23967200;24043627;24097101;24190977;2454931;2457584;2462607;24743777;24764293;2477488;25234944;2538457;25502872;2563162;25825441;25892735;27055590;27397612;27452731;27726376;27862975;2833753;28467828;28807980;28832583;28904123;29242379;29314611;29493099;29557506;29632046;29632711;29741879;29786170;29789417;30429286;30524438;31611695;31844290;32157095;32162841;32350084;32357974;32387766;32983136;33043033;33717175;33912179;33968037;34087483;34171305;34357683;34433824;34509645;34932366;35051231;35154160;35251023;3537192;3539202;35580925;36215666;37074911;38413872;38637126;38730209;38907234;39004752;468991;7505120;7509040;7510216;7512451;7521878;7525578;7529288;7541634;7542249;7559467;7592772;7685013;7795521;7796300;7867070;7898939;7907877;8085155;8118028;8163559;8166770;8314844;8344274;8419480;8560266;8602263;8621622;8639667;8663118;8668165;8692836;8747460;8797861;8798654;8816495;8838667;8910476;9013879;9052782;9169774;9242610;9251239;9295288;9382878;9443892;9558116;9560195;9565552;9651359;9665271;9687375;9693095;9723655;9736340;9763524;9822675;9858236;9874564", "class_list": "", "function": "CD11b maintains West Nile virus replication through modulation of immune response in human neuroblastoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; ITGAM is a critical gene in ischemic stroke., [RefSeq, PubMed]; ITGAM-mediated macrophages contribute to basement membrane damage in diabetic nephropathy and atherosclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Integrin ITGAM/ITGB2 is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles and pathogens (PubMed:20008295, PubMed:9558116). It is identical with CR-3, the receptor for the iC3b fragment of the third complement component. It probably recognizes the R-G-D peptide in C3b. Integrin ITGAM/ITGB2 is also a receptor for fibrinogen and factor X. It recognizes P1 and P2 peptides of fibrinogen gamma chain. Regulates neutrophil migration (PubMed:28807980). In association with beta subunit ITGB2/CD18, required for CD177-PRTN3-mediated activation of TNF primed neutrophils (PubMed:21193407). Integrin ITGAM/ITGB2 is also a receptor for ICAM1 ligand ensuring adhesion between stimulated neutrophils and stimulated endothelial cells (PubMed:1980124). May regulate phagocytosis-induced apoptosis in extravasated neutrophils (By similarity). May play a role in mast cell development (By similarity). Required with TYROBP/DAP12 in microglia to control production of microglial superoxide ions which promote the neuronal apoptosis that occurs during brain development (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Mechanisms underlying neutrophils adhesion to triple-negative breast cancer cells via CD11b-ICAM1 in promoting breast cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 15, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 10, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 15, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 15, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 66, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 40, "disease_count": 24, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "Q4VAK0;Q4VAK1;Q4VAK2", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0046872 metal ion binding;GO:0001540 amyloid-beta binding;GO:0031072 heat shock protein binding;GO:0001851 complement component C3b binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0035579 specific granule membrane;GO:0044853 plasma membrane raft", "go_biological_process": "GO:1904643 response to curcumin;GO:0002430 complement receptor mediated signaling pathway;GO:1904151 positive regulation of microglial cell mediated cytotoxicity;GO:0001774 microglial cell activation;GO:0002931 response to ischemia", "synthesized_glycan_count": 0, "hit_score": 36.6, "record_id": "P11215-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96T91-1", "uniprot_id": [ { "id": "GPHA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96T91", "type": "external" } ], "mass": 14163.0, "length": 129, "protein_name": "Glycoprotein hormone alpha-2", "gene_name": "GPHA2", "organism": "Human", "refseq_name": "glycoprotein hormone alpha-2 precursor", "refseq_ac": [ { "id": "NP_570125", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570125", "type": "external" } ], "gene_names_uniprotkb": "GPHA2; GPA2; ZSIG51", "gene_names_refseq": "A2; GPA2; GPHA2; ZSIG51", "protein_names_uniprotkb": "Glycoprotein hormone alpha-2; Putative secreted protein Zsig51; Thyrostimulin subunit alpha", "protein_names_refseq": "cysteine knot protein; glycoprotein alpha 2; glycoprotein hormone alpha 2; glycoprotein hormone alpha-2 precursor; putative secreted protein Zsig51; thyrostimulin subunit alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:170589); (R-HSA-375281); (R-HSA-418555)", "pathway_count": 3, "publication_count": 82, "publication_id_list": "10.1101/2023.09.13.557529;11007482;11237011;11707068;11726197;12036966;12039074;12045258;12058044;12089349;12106601;12180353;12860470;1333190;13549488;14671004;1517224;15765929;15769620;15890769;15951850;16313925;16376481;16687412;16923326;1709010;17095587;17168849;17363077;18044684;18433898;18577758;19006286;19105585;1922095;19876791;19929708;20381629;21036126;2163110;21657270;2244890;2417744;24687066;2491850;2553411;2553705;2558651;25811175;26018249;26398856;26417854;26774084;2871555;29443750;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;38194289;38246572;6085243;6090951;7649152;8188646;8340388;8514797;8672451;8702611;9263355;9300077;9417641;9419371;9651336", "class_list": "", "function": "Cloning and functional analysis of the promoter of the thyrostimulin A2 subunit, [RefSeq, PubMed]; Dual site-disrupted GPA2 and the GPB5 mutant were not expressed in either the conditioned medium or cell lysate., [RefSeq, PubMed]; Expressed in osteoblasts and osteoclasts Erratum:[Endocrinology. 2018 Apr 1;159(4):1762. doi: 10.1210/en.2018-00190. PMID: 29529189], [RefSeq, PubMed]; Functions as a heterodimeric glycoprotein hormone with GPHB5 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production (PubMed:12045258). Plays a central role in controlling thyroid cell metabolism (PubMed:12045258)., [UniProtKB, PubMed]; GPA2, and another beta-subunit, GPB5, in human, are capable of forming heterodimers to activate TSH receptors., [RefSeq, PubMed]; GPHA2 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008]., [RefSeq]; Glycoprotein hormone subunit alpha 2 (GPHA2): A pituitary stem cell-expressed gene associated with NOTCH2 signaling., [RefSeq, PubMed]; Identification and characterization of GPA2 genes, [RefSeq, PubMed]; Sudy illustrated that GPA2 is positively regulated by isl-1, suggesting that this protein associates with endocrine systems including the pituitary and pancreas., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q52LE2", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0005179 hormone activity;GO:0031531 thyrotropin-releasing hormone receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q96T91-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95460-1", "uniprot_id": [ { "id": "MATN4_HUMAN", "url": "https://www.uniprot.org/uniprot/O95460", "type": "external" } ], "mass": 68487.0, "length": 622, "protein_name": "Matrilin-4", "gene_name": "MATN4", "organism": "Human", "refseq_name": "matrilin-4 isoform 3 precursor", "refseq_ac": [ { "id": "NP_085095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085095", "type": "external" } ], "gene_names_uniprotkb": "MATN4", "gene_names_refseq": "MATN4", "protein_names_uniprotkb": "Matrilin-4", "protein_names_refseq": "matrilin-4 isoform 3 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:8785); (R-HSA-3000178)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "10022829;10339611;10673326;11084047;11237011;11259413;12225811;1376317;14715956;15075323;15296743;1544908;16293224;16493581;17588949;2059554;21642437;21789315;22134916;2364322;2412224;2420006;2430969;24715725;29741879;31844290;32488085;35051231;35251023;38889378;6193777;6439184;7499434;7527058;7542669;7559467;7685013;7693733;7852349;8002934;8440685;8798654;8943283;9252349;9294172;9341124;9346959;9685393;9827539;9949188", "class_list": "", "function": "MATN4 as a target gene of HIF-1alpha promotes the proliferation and metastasis of osteosarcoma., [RefSeq, PubMed]; Major component of the extracellular matrix of cartilage., [UniProtKB]; This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NH94;A6NKN5;Q5QPU2;Q5QPU3;Q5QPU4;Q8N2M5;Q8N2M7;Q9H1F8;Q9H1F9", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix", "go_biological_process": "GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "O95460-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62249-1", "uniprot_id": [ { "id": "RS16_HUMAN", "url": "https://www.uniprot.org/uniprot/P62249", "type": "external" } ], "mass": 16445.0, "length": 146, "protein_name": "Small ribosomal subunit protein uS9", "gene_name": "RPS16", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS9 isoform 1", "refseq_ac": [ { "id": "NP_001011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011", "type": "external" } ], "gene_names_uniprotkb": "RPS16", "gene_names_refseq": "RPS16; S16; uS9", "protein_names_uniprotkb": "Small ribosomal subunit protein uS9; 40S ribosomal protein S16", "protein_names_refseq": "40S ribosomal protein S16; small ribosomal subunit protein uS9 isoform 1; small ribosomal subunit protein uS9", "tax_id": 9606, "disease": "", "pathway": " (hsa:6217); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 293, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12939341;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17697703;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20112406;2016298;20305658;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22121020;22174690;22190735;22195017;22424782;22645359;22855488;22916032;23035226;23085078;23186163;23217742;23234702;23269699;23328677;23439679;23482395;23636399;23746841;2388630;24366607;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25432065;25502872;25525153;25576301;25810538;25880248;25969445;26024233;26154972;26237581;26992070;27397612;27526673;27600516;27846572;27862975;28063628;28065601;28132843;28685749;28904123;29351928;29393594;29413899;29437277;29493099;29557506;29632046;30293783;30315122;30410026;30429286;30484775;30804176;30833945;31020640;31217245;31844290;32099016;32157095;32350084;32357974;32387766;32488085;32502341;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33091337;33123756;33141586;33188728;33214551;33268501;33298915;33392160;33479166;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34154657;34171305;34211107;34315815;34373319;34509645;34516797;34561969;34624207;34725712;34932366;35051231;35083852;35138101;35251023;35318648;35561310;35580925;35873150;36010968;36215666;36241641;36284347;36302773;36610391;37217939;37938771;38665916;39534244;40596516;40914422;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7506728;7990965;8336711;8407925;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)., [UniProtKB, PubMed, PubMed]; MicroRNA let-7 Suppresses Influenza A Virus Infection by Targeting RPS16 and Enhancing Type I Interferon Response. Publication Status: Online-Only, [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S9P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; USP1-dependent RPS16 protein stability drives growth and metastasis of human hepatocellular carcinoma cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RDD5;P17008", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0006412 translation;GO:0006364 rRNA processing;GO:0002181 cytoplasmic translation;GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 29.8, "record_id": "P62249-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42704-1", "uniprot_id": [ { "id": "LPPRC_HUMAN", "url": "https://www.uniprot.org/uniprot/P42704", "type": "external" } ], "mass": 157905.0, "length": 1394, "protein_name": "Leucine-rich PPR motif-containing protein, mitochondrial", "gene_name": "LRPPRC", "organism": "Human", "refseq_name": "leucine-rich PPR motif-containing protein, mitochondrial precursor", "refseq_ac": [ { "id": "NP_573566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_573566", "type": "external" } ], "gene_names_uniprotkb": "LRPPRC; LRP130", "gene_names_refseq": "CLONE-23970; GP130; LRP130; LRPPRC; LSFC; MC4DN5", "protein_names_uniprotkb": "Leucine-rich PPR motif-containing protein, mitochondrial; 130 kDa leucine-rich protein; GP130; LRP 130", "protein_names_refseq": "130 kDa leucine-rich protein; LRP 130; leucine-rich PPR motif-containing protein, mitochondrial precursor; leucine-rich PPR motif-containing protein, mitochondrial; leucine-rich PPR-motif containing; mitochondrial leucine-rich PPR motif-containing protein", "tax_id": 9606, "disease": "French Canadian Leigh disease (Disease Ontology:DOID:0111180); Leigh disease (Disease Ontology:DOID:3652)", "pathway": " (hsa:10128); (R-HSA-9836573); (R-HSA-9937008)", "pathway_count": 3, "publication_count": 147, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11585913;11827465;12529507;12832482;15081402;15096047;15139850;15272088;15769737;15907802;17050673;17322306;18083837;19262567;19509288;19608861;19864255;20068231;20200222;21292163;22210891;22544926;22645359;22661577;23186163;23221631;23301498;23473033;23481700;23741365;23822101;24366607;24715725;25008111;25418920;25469497;25576301;25645385;25802875;25810538;25880248;26154972;26510951;26768311;26853435;26929215;26992070;27600516;27846572;27893789;27920218;27974379;28063628;28218747;28228285;28325843;28510447;28649982;28832583;28834231;28855257;28904123;29107537;29146908;29242379;29288125;29314611;29317506;29331515;29366917;29437277;29508533;29557506;29632046;29769354;29774024;29786170;29967381;30046113;30192525;30315122;30379171;30397120;30410026;30429286;30444036;30484775;30524438;30620550;31217245;31477916;31530632;31611695;31844290;31937766;32119511;32157095;32350084;32357974;32365187;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34725712;35051231;35083852;35318648;35481630;35580925;36010968;36215666;36241641;36328147;37063837;37217939;37700277;38372449;38665916;40596516;40914422;8012652", "class_list": "", "function": "Deubiquitylase PSMD14 inhibits autophagy to promote ovarian cancer progression via stabilization of LRPPRC., [RefSeq, PubMed]; GREM1, LRPPRC and SLC39A4 as potential biomarkers of intervertebral disc degeneration: a bioinformatics analysis based on multiple microarray and single-cell sequencing data. Publication Status: Online-Only, [RefSeq, PubMed]; LRPPRC facilitates tumor progression and immune evasion through upregulation of m[6]A modification of PD-L1 mRNA in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; LRPPRC promotes glycolysis by stabilising LDHA mRNA and its knockdown plus glutamine inhibitor induces synthetic lethality via m[6] A modification in triple-negative breast cancer., [RefSeq, PubMed]; May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. Positively modulates nuclear export of mRNAs containing the EIF4E sensitivity element (4ESE) by binding simultaneously to both EIF4E and the 4ESE and acting as a platform for assembly for the RNA export complex (PubMed:19262567, PubMed:28325843). Also binds to exportin XPO1/CRM1 to engage the nuclear pore and traffic the bound mRNAs to the cytoplasm (PubMed:28325843). May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain mitochondrially encoded genes and gluconeogenic genes and may regulate docking of PPARGC1A to transcription factors. Seems to be involved in the transcription regulation of the multidrug-related genes MDR1 and MVP. Part of a nuclear factor that binds to the invMED1 element of MDR1 and MVP gene promoters. Binds single-stranded DNA (By similarity). Required for maintaining mitochondrial potential (PubMed:23822101). Suppresses the initiation of basal levels of autophagy and mitophagy by sustaining BCL2 levels (PubMed:23822101)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Regulatory role of LRPPRC in integration of cytoskeletal networks with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling, and cytokinesis, [RefSeq, PubMed]; This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]., [RefSeq]; Using an integrative genomics approach, a single candidate gene, LRPPRC, was identified and shown to be the causative gene underlying Leigh syndrome, French-Canadian type (LSFC), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A0PJE3;A8K1V1;Q53PC0;Q53QN7;Q6ZUD8;Q7Z7A6;Q96D84", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008017 microtubule binding;GO:0031625 ubiquitin protein ligase binding;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0047497 mitochondrion transport along microtubule;GO:0006351 DNA-templated transcription;GO:0006914 autophagy;GO:0070129 regulation of mitochondrial translation;GO:0097222 mitochondrial mRNA polyadenylation", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "P42704-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q56UN5-1", "uniprot_id": [ { "id": "M3K19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q56UN5", "type": "external" } ], "mass": 150537.0, "length": 1328, "protein_name": "Mitogen-activated protein kinase kinase kinase 19", "gene_name": "MAP3K19", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 19 isoform 3", "refseq_ac": [ { "id": "NP_001018054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018054", "type": "external" } ], "gene_names_uniprotkb": "MAP3K19; RCK; YSK4", "gene_names_refseq": "MAP3K19; RCK; YSK4", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 19; 2.7.11.1; Regulated in COPD, protein kinase; SPS1/STE20-related protein kinase YSK4", "protein_names_refseq": "SPS1/STE20-related protein kinase YSK4; YSK4 Sps1/Ste20-related kinase homolog; mitogen-activated protein kinase kinase kinase 19 isoform 3; regulated in COPD kinase; regulated in COPD, protein kinase; yeast Sps1/Ste20-related kinase 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:80122)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;17344846;23481700;24715725;27935962;29557506;29789417;31092671;32358059;33141586;35051231;39894887", "class_list": "", "function": "Mitogen-activated protein kinase kinase kinase 19 (MAP3K19) is overexpressed in the lungs of chronic obstructive pulmonary disease (COPD) patients. Publication Status: Online-Only, [RefSeq, PubMed]; The protein kinase MAP3K19 phosphorylates MAP2Ks and thereby activates ERK and JNK kinases and increases viability of KRAS-mutant lung cancer cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RP57;B7ZMH9;E2QRE3;Q56UN1;Q56UN2;Q56UN3;Q56UN4;Q8N4E9;Q9H5T2", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "", "go_biological_process": "GO:0000165 MAPK cascade;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q56UN5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43462-1", "uniprot_id": [ { "id": "MBTP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43462", "type": "external" } ], "mass": 57444.0, "length": 519, "protein_name": "Membrane-bound transcription factor site-2 protease", "gene_name": "MBTPS2", "organism": "Human", "refseq_name": "membrane-bound transcription factor site-2 protease", "refseq_ac": [ { "id": "NP_056968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056968", "type": "external" } ], "gene_names_uniprotkb": "MBTPS2; S2P", "gene_names_refseq": "BRESEK; IFAP; KFSDX; KFSD; MBTPS2; OI19; OLMSX; S2P", "protein_names_uniprotkb": "Membrane-bound transcription factor site-2 protease; 3.4.24.85; Endopeptidase S2P; SREBPs intramembrane protease; Sterol regulatory element-binding proteins intramembrane protease", "protein_names_refseq": "SREBPs intramembrane protease; endopeptidase S2P; keratosis follicularis spinulosa decalvans; membrane-bound transcription factor protease, site 2; membrane-bound transcription factor site-2 protease; site-2 protease; sterol regulatory element-binding proteins intramembrane protease", "tax_id": 9606, "disease": "X-linked keratosis follicularis spinulosa decalvans (Disease Ontology:DOID:0080754); ichthyosis follicularis-alopecia-photophobia syndrome 1 (Disease Ontology:DOID:0111821); osteogenesis imperfecta type 19 (Disease Ontology:DOID:0111847); X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Disease Ontology:DOID:0112012)", "pathway": " (hsa:51360); (R-HSA-1655829); (R-HSA-381033); (R-HSA-8874177); (R-HSA-8874211); (R-HSA-8963889)", "pathway_count": 6, "publication_count": 154, "publication_id_list": "10.1101/2023.09.13.557529;10397761;10419520;10428864;10564271;10644685;10694306;10805775;10856300;10900462;11158310;11163209;11237011;11256944;11283257;11353085;11821395;11830526;12110171;12138176;1301939;14645851;14973138;15284087;15299016;15550381;15657421;15800215;16109723;16236796;16417584;16469704;16940180;17088546;17117415;17449569;17522056;17712038;17875199;17883852;17994020;17997385;18391022;19304573;19361614;19693772;19883396;20356926;20546900;20581395;20672378;21666694;21719679;21767813;21844202;22262056;22569073;22705851;22740495;22931912;23020258;23150577;23256041;23481700;24126059;24190977;24397894;24715725;24909692;24960069;25387803;25447309;25576301;25625847;25645385;25892735;25955804;26154972;26648175;26810754;26933753;26934567;26934667;26992070;27380894;27600516;27920218;28218747;28514659;28717930;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29769354;29951998;30294811;30315122;30410026;30429286;30484775;30524438;30589367;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31875875;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33091337;33141586;33298915;33743732;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34932366;35051231;35580925;36010968;36215666;36241641;37938771;7592670;8020465;8156598;8485124;8674110;9136889;9271389;9379936;9488713;9634703;9659902", "class_list": "", "function": "Assign the IFAP syndrome locus to the 5.4 Mb region between DXS989 and DXS8019 on Xp22.11-p22.13 and provide evidence that missense mutations of membrane-bound transcription factor protease, site 2 (MBTPS2) are associated with this phenotype, [RefSeq, PubMed]; MBTPS2 mutation is associated with Retinal venous tortuosity., [RefSeq, PubMed]; MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Study reports a novel missense mutation c.638C>T (p.Ser213Leu) in MBTPS2 in a large Chinese family with keratosis follicularis spinulosa decalvans., [RefSeq, PubMed]; Study reports a three-generation Chinese pedigree with a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome caused by a novel hemizygous missense mutation c.1494G>T (p.Leu498Phe) in exon 11 of MBTPS2., [RefSeq, PubMed]; This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]., [RefSeq]; This study identified a direct regulatory effect of MBTPS2 on TRPV3 which can partially contribute to the overlapping clinical features of IFAP and Olmsted syndromes under a common signaling pathway., [RefSeq, PubMed]; Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:10805775, PubMed:11163209). Catalyzes the second step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2: cleaves SREBPs within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached (PubMed:10805775, PubMed:27380894, PubMed:9659902). Mature N-terminal SREBP fragments shuttle to the nucleus and activate gene transcription (PubMed:10805775, PubMed:27380894, PubMed:9659902). Also mediates the second step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) (PubMed:11163209). Involved in intramembrane proteolysis during bone formation (PubMed:27380894). In astrocytes and osteoblasts, upon DNA damage and ER stress, mediates the second step of the regulated intramembrane proteolytic activation of the transcription factor CREB3L1, leading to the inhibition of cell-cycle progression (PubMed:16417584)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 9393, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9UM70;Q9UMD3", "ec_number_list": [ { "id": "3.4.24.85", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.85", "type": "external" }, { "id": "3.4.21.112", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.112", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0140537 transcription regulator activator activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0008203 cholesterol metabolic process;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045540 regulation of cholesterol biosynthetic process;GO:0045542 positive regulation of cholesterol biosynthetic process;GO:0031293 membrane protein intracellular domain proteolysis", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "O43462-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NTI7-1", "uniprot_id": [ { "id": "INKA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NTI7", "type": "external" } ], "mass": 32759.0, "length": 297, "protein_name": "PAK4-inhibitor INKA2", "gene_name": "INKA2", "organism": "Human", "refseq_name": "PAK4-inhibitor INKA2 isoform 2", "refseq_ac": [ { "id": "NP_945120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945120", "type": "external" } ], "gene_names_uniprotkb": "INKA2; C1orf183; FAM212B", "gene_names_refseq": "C1orf183; FAM212B; INKA2", "protein_names_uniprotkb": "PAK4-inhibitor INKA2; Inca-r; Induced in neural crest by AP2-alpha protein-related homolog; Inka-box actin regulator 2", "protein_names_refseq": "HInca-r; PAK4-inhibitor INKA2 isoform 2; PAK4-inhibitor INKA2; family with sequence similarity 212 member B; inca-r; induced in neural crest by AP2-alpha protein-related homolog; protein FAM212B", "tax_id": 9606, "disease": "", "pathway": " (hsa:55924)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;17314132;19047128;19851984;26607847;27846572;27920218;29557506;29632046;31844290;33188281;33936100;33981976;35580925", "class_list": "", "function": "Fra-2/AP-1 regulates melanoma cell metastasis by downregulating Fam212b., [RefSeq, PubMed]; Inhibitor of the serine/threonine-protein kinase PAK4. Acts by binding PAK4 in a substrate-like manner, inhibiting the protein kinase activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KP38;B4DF94;Q9NTI6", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0030291 protein serine/threonine kinase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9NTI7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12894-1", "uniprot_id": [ { "id": "IFRD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12894", "type": "external" } ], "mass": 48048.0, "length": 442, "protein_name": "Interferon-related developmental regulator 2", "gene_name": "IFRD2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IFRD2", "gene_names_refseq": "", "protein_names_uniprotkb": "Interferon-related developmental regulator 2; Protein SKMC15", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:7866)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;30355441;9050919", "class_list": "", "function": "Ribosome-binding protein that acts as an inhibitor of mRNA translation by promoting ribosome inactivation (PubMed:30355441). Associates with the P- and E-sites of the ribosome and inserts a C-terminal helix into the mRNA exit channel to preclude translation (By similarity)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0R4J2F6;Q9BVB4;Q9UJ88", "ec_number_list": [], "go_molecular_function": "GO:0030371 translation repressor activity;GO:0043022 ribosome binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0017148 negative regulation of translation", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q12894-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43148-1", "uniprot_id": [ { "id": "MCES_HUMAN", "url": "https://www.uniprot.org/uniprot/O43148", "type": "external" } ], "mass": 54844.0, "length": 476, "protein_name": "mRNA cap guanine-N(7) methyltransferase", "gene_name": "RNMT", "organism": "Human", "refseq_name": "mRNA cap guanine-N(7) methyltransferase isoform 1", "refseq_ac": [ { "id": "NP_001295192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295192", "type": "external" } ], "gene_names_uniprotkb": "RNMT; KIAA0398", "gene_names_refseq": "CMT1c; CMT1; N7-MTase; RG7MT1; RNMT; cm1p; hCMT1; hMet", "protein_names_uniprotkb": "mRNA cap guanine-N(7) methyltransferase; 2.1.1.56; RG7MT1; hCMT1; hMet; hcm1p; mRNA (guanine-N(7))-methyltransferase; mRNA cap methyltransferase", "protein_names_refseq": "RNA (guanine-7-) methyltransferase; hcm1p; mRNA (guanine-7-)methyltransferase; mRNA (guanine-N(7)-)-methyltransferase; mRNA cap guanine-N(7) methyltransferase isoform 1; mRNA cap guanine-N(7) methyltransferase; mRNA cap guanine-N7 methyltransferase; mRNA cap methyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:8731); (R-HSA-167160); (R-HSA-72086); (R-HSA-77075)", "pathway_count": 4, "publication_count": 85, "publication_id_list": "10347220;10589710;11114884;11237011;15767670;15989964;17499042;18157150;18446792;19729311;19941815;20068231;20305658;22099306;22424782;22898188;22982363;23301498;23481700;24354960;24715725;25576301;25645385;26154972;26768311;26942677;27422871;27600516;27791484;27846572;28228285;28297668;28832583;28904123;28981715;29242379;29493099;29508533;29557506;29632711;29786170;30315122;30429286;30484775;30524438;31154438;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33936100;33968037;33981976;34019948;34171305;34211107;34509645;34725712;35026230;35051231;35251023;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38402266;39302247;9512541;9705270;9790902", "class_list": "", "function": "Catalytic subunit of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs (PubMed:10347220, PubMed:11114884, PubMed:22099306, PubMed:27422871, PubMed:9705270, PubMed:9790902). Binds RNA containing 5'-terminal GpppC (PubMed:11114884)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Identification and Characterization of the Interaction Between the Methyl-7-Guanosine Cap Maturation Enzyme RNMT and the Cap-Binding Protein eIF4E., [RefSeq, PubMed]; Kinetic characterization of human mRNA guanine-N7 methyltransferase. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ90;D3DUJ5;O94996;Q9UIJ9", "ec_number_list": [ { "id": "2.1.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.56", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0004482 mRNA 5'-cap (guanine-N7-)-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0043235 receptor complex;GO:0001650 fibrillar center;GO:0031533 mRNA capping enzyme complex", "go_biological_process": "GO:0006370 7-methylguanosine mRNA capping", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "O43148-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12851-1", "uniprot_id": [ { "id": "M4K2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12851", "type": "external" } ], "mass": 91556.0, "length": 820, "protein_name": "Mitogen-activated protein kinase kinase kinase kinase 2", "gene_name": "MAP4K2", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase kinase 2 isoform 2", "refseq_ac": [ { "id": "NP_001294919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294919", "type": "external" } ], "gene_names_uniprotkb": "MAP4K2; GCK; RAB8IP", "gene_names_refseq": "BL44; GCK; MAP4K2; RAB8IP", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase kinase 2; 2.7.11.1; B lymphocyte serine/threonine-protein kinase; GC kinase; Germinal center kinase; MAPK/ERK kinase kinase kinase 2; MEK kinase kinase 2; MEKKK 2; Rab8-interacting protein", "protein_names_refseq": "B lymphocyte serine/threonine protein kinase; MAPK/ERK kinase kinase kinase 2; MEK kinase kinase 2; MEKKK 2; Rab8 interacting protein; germinal centre kinase (GC kinase); mitogen-activated protein kinase kinase kinase kinase 2 isoform 2", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:5871)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "10026130;11237011;11316611;11784851;15456887;17584736;18669648;19369195;19413330;19690332;23186163;24072714;24715725;25075558;25418920;25576301;25880248;26154972;26375851;26437443;26811146;26992070;27151888;27846572;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;30217450;30315122;30429286;31844290;32157095;32350084;32502341;32938616;33298915;33912179;33968037;33981976;35051231;35561310;35580925;36010968;37937799;7477268;7515885;9712898", "class_list": "", "function": "Data indicate 4-substituted 1H-pyrrolo[2,3-b]pyridines as potent inhibitors against TGFbeta-activated kinase 1 (TAK1) and mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2)., [RefSeq, PubMed]; Intermediates in the guanine nucleotide exchange reaction of Rab8 protein catalyzed by guanine nucleotide exchange factors Rabin8 and GRAB., [RefSeq, PubMed]; MAP4K2 connects the Hippo pathway to autophagy in response to energy stress., [RefSeq, PubMed]; MAP4K2 was up-regulated and its expression was inversely correlated with collagen expression in the osteoblasts from older donors., [RefSeq, PubMed]; Serine/threonine-protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Acts as a MAPK kinase kinase kinase (MAP4K) and is an upstream activator of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway and to a lesser extent of the p38 MAPKs signaling pathway. Required for the efficient activation of JNKs by TRAF6-dependent stimuli, including pathogen-associated molecular patterns (PAMPs) such as polyinosine-polycytidine (poly(IC)), lipopolysaccharides (LPS), lipid A, peptidoglycan (PGN), or bacterial flagellin. To a lesser degree, IL-1 and engagement of CD40 also stimulate MAP4K2-mediated JNKs activation. The requirement for MAP4K2/GCK is most pronounced for LPS signaling, and extends to LPS stimulation of c-Jun phosphorylation and induction of IL-8. Enhances MAP3K1 oligomerization, which may relieve N-terminal mediated MAP3K1 autoinhibition and lead to activation following autophosphorylation. Also mediates the SAP/JNK signaling pathway and the p38 MAPKs signaling pathway through activation of the MAP3Ks MAP3K10/MLK2 and MAP3K11/MLK3. May play a role in the regulation of vesicle targeting or fusion. regulation of vesicle targeting or fusion. Activator of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. MAP4Ks act in parallel to and are partially redundant with STK3/MST2 and STK4/MST2 in the phosphorylation and activation of LATS1/2, and establish MAP4Ks as components of the expanded Hippo pathway (PubMed:26437443)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [RefSeq]; These studies demonstrate, for the first time, that GCK is a molecular therapeutic target in DLBCL tumors and that inhibiting GCK may significantly extend DLBCL patient survival., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86VU3", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0031435 mitogen-activated protein kinase kinase kinase binding;GO:0008349 MAP kinase kinase kinase kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0006955 immune response;GO:0035556 intracellular signal transduction;GO:0045087 innate immune response;GO:0046330 positive regulation of JNK cascade", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q12851-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6I4-1", "uniprot_id": [ { "id": "LVX54_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6I4", "type": "external" } ], "mass": 12395.0, "length": 117, "protein_name": "Immunoglobulin lambda variable 10-54", "gene_name": "IGLV10-54", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLV10-54", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 10-54", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11872955;17576170;20176268;22158414;24600447;32502341", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 308, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A075B6I4-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZI5-1", "uniprot_id": [ { "id": "GRHL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZI5", "type": "external" } ], "mass": 70113.0, "length": 618, "protein_name": "Grainyhead-like protein 1 homolog", "gene_name": "GRHL1", "organism": "Human", "refseq_name": "grainyhead-like protein 1 homolog", "refseq_ac": [ { "id": "NP_937825", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937825", "type": "external" } ], "gene_names_uniprotkb": "GRHL1; LBP32; MGR; TFCP2L2", "gene_names_refseq": "GRHL1; LBP32; MGR; NH32; TFCP2L2", "protein_names_uniprotkb": "Grainyhead-like protein 1 homolog; Mammalian grainyhead; NH32; Transcription factor CP2-like 2; Transcription factor LBP-32", "protein_names_refseq": "LBP protein 32; grainyhead-like 1; grainyhead-like protein 1 homolog; mammalian grainyhead; transcription factor CP2-like 2; transcription factor LBP-32", "tax_id": 9606, "disease": "", "pathway": " (hsa:29841); (R-HSA-1989781)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10644752;10777541;11237011;11267664;12118000;12175488;12177166;12393799;12505311;12549979;12582161;15067378;15130092;15635043;16380219;16972786;18004979;18288204;18540824;18719978;18848529;19088433;19710929;19934321;20110263;23186163;24196956;25576301;26992070;27543614;29309642;29493099;29786170;30779550;33931584;33981976;35013237;35051231;35254053;38049725;39063155;39531497;7685352;7892212;8647822;9012850;9748239", "class_list": "", "function": "Discovery of a non-canonical GRHL1 binding site using deep convolutional and recurrent neural networks. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a transcription activator., [UniProtKB, PubMed, PubMed]; Grainyhead 1 acts as a drug-inducible conserved transcriptional regulator linked to insulin signaling and lifespan. Publication Status: Online-Only, [RefSeq, PubMed]; Includes a comparison to TFCP2L2, the GRHL1 protein., [RefSeq, PubMed]; LBP-1b and LBP-9 both stimulate LBP-32/MGR promoter activity., [RefSeq, PubMed]; May function as a repressor in tissues where both isoform 1 and isoform 2 are expressed., [UniProtKB, PubMed]; Structural basis of DNA target-site recognition by grainyhead-like 1., [RefSeq, PubMed]; This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq, Jun 2009]., [RefSeq]; Transcription factor involved in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' (PubMed:12175488, PubMed:18288204, PubMed:29309642). Important regulator of DSG1 in the context of hair anchorage and epidermal differentiation, participates in the maintenance of the skin barrier. There is no genetic interaction with GRHL3, nor functional cooperativity due to diverse target gene selectivity during epithelia development (By similarity). May play a role in regulating glucose homeostasis and insulin signaling., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Vitamin D Receptor Regulates the Expression of the Grainyhead-Like 1 Gene. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NLA4;B2R7E4;B5MEC2;Q53T93;Q6NWN7;Q6NWN8;Q6NWN9;Q8NI33", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0008544 epidermis development", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9NZI5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWB7-1", "uniprot_id": [ { "id": "GLMP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWB7", "type": "external" } ], "mass": 43864.0, "length": 406, "protein_name": "Glycosylated lysosomal membrane protein", "gene_name": "GLMP", "organism": "Human", "refseq_name": "glycosylated lysosomal membrane protein isoform 5", "refseq_ac": [ { "id": "NP_001243538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243538", "type": "external" } ], "gene_names_uniprotkb": "GLMP; C1orf85; PRO6182; PSEC0030", "gene_names_refseq": "C1orf85; GLMP; NCU-G1; lnc-UCID", "protein_names_uniprotkb": "Glycosylated lysosomal membrane protein; Lysosomal protein NCU-G1", "protein_names_refseq": "glycosylated lysosomal membrane protein isoform 5; kidney lysosomal membrane protein; kidney predominant protein NCU-G1; lncRNA up-regulating CDK6 by interacting with DHX9; lysosomal protein NCU-G1", "tax_id": 9606, "disease": "", "pathway": " (hsa:112770)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;16303743;17897319;18021396;19556463;23090970;23345538;24190977;25645385;26992070;27862975;28832583;28904123;29242379;29741879;29786170;30833945;31154438;31844290;31848261;32157095;32350084;32387766;32488085;32938616;32983136;33214551;33392160;33592498;33968037;33981976;34171305;34357683;35051231;35251023;35318648;35580925;36010968;36241641;36284347;37074911;37914704", "class_list": "", "function": "N4-acetylcytidine-dependent GLMP mRNA stabilization by NAT10 promotes head and neck squamous cell carcinoma metastasis and remodels tumor microenvironment through MAPK/ERK signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; NCU-G1 is a dual-function protein capable of functioning as a transcription factor as well as a nuclear receptor co-activator. Publication Status: Online-Only, [RefSeq, PubMed]; Required to protect lysosomal transporter MFSD1 from lysosomal proteolysis and for MFSD1 lysosomal localization., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A6NH16;B4DJN4;Q5SZX4;Q6UX96;Q8IV07;Q96F65", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016020 membrane;GO:0005764 lysosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0050821 protein stabilization;GO:0061462 protein localization to lysosome", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q8WWB7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CH1-1", "uniprot_id": [ { "id": "GP146_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CH1", "type": "external" } ], "mass": 36580.0, "length": 333, "protein_name": "G protein-coupled receptor 146", "gene_name": "GPR146", "organism": "Human", "refseq_name": "G-protein coupled receptor 146", "refseq_ac": [ { "id": "NP_001290402", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290402", "type": "external" } ], "gene_names_uniprotkb": "GPR146; PGR8", "gene_names_refseq": "GPR146; PGR8", "protein_names_uniprotkb": "G protein-coupled receptor 146; G protein-coupled receptor PGR8", "protein_names_refseq": "G-protein coupled receptor 146; G-protein coupled receptor PGR8; probable G-protein coupled receptor 146", "tax_id": 9606, "disease": "", "pathway": " (hsa:115330)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;12679517;22544926;23481700;23980258;26992070;28834231;29557506;29789417;30524438;31154438;31778654;31998317;32938616;33592498;35580925;36047410;37926274;38465903;38503280", "class_list": "", "function": "G protein-coupled receptor 146: new insights from genetics and model systems. Review article, [RefSeq, PubMed]; G protein-coupled receptor required for the regulation of plasma cholesterol levels (PubMed:31778654, PubMed:38503280). Receptor for CHLSN, a gut derived hormone which mediates an inhibitory effect of intestinal cholesterol absorption on hepatic cholesterol synthesis. Cholesin-binding exerts an antagonistic effect by inhibiting PKA signaling and suppressing SREBF2-controlled cholesterol in the liver (PubMed:38503280)., [UniProtKB, PubMed, PubMed]; GPR146 regulates pulmonary vascular remodeling by promoting pulmonary artery smooth muscle cell proliferation through 5-lipoxygenase., [RefSeq, PubMed]; Knockdown of GPR146 blocked C-peptide-induced cFos expression in KATOIII cells., [RefSeq, PubMed]; Variants in the GPR146 Gene Are Associated With a Favorable Cardiometabolic Risk Profile., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86SP5", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0045540 regulation of cholesterol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q96CH1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZM3-1", "uniprot_id": [ { "id": "GSX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZM3", "type": "external" } ], "mass": 32031.0, "length": 304, "protein_name": "GS homeobox 2", "gene_name": "GSX2", "organism": "Human", "refseq_name": "GS homeobox 2", "refseq_ac": [ { "id": "NP_573574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_573574", "type": "external" } ], "gene_names_uniprotkb": "GSX2; GSH2", "gene_names_refseq": "DMJDS2; GSH2; GSX2", "protein_names_uniprotkb": "GS homeobox 2; Genetic-screened homeobox 2; Homeobox protein GSH-2", "protein_names_refseq": "GS homeobox 2; genetic-screened homeobox 2; homeobox protein GSH-2", "tax_id": 9606, "disease": "diencephalic-mesencephalic junction dysplasia syndrome 2 (MONDO:MONDO:0020762)", "pathway": " (hsa:170825)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;11861295;19709628;28137879;29794476;31412107;34623580;35051231", "class_list": "", "function": "Data show that GS Homeobox 2 (Gsx2) and Early B-cell factor 1 (Ebf1) combined overexpression in human embryonic stem (hES) cells achieves high yields of medium spiny neurons (MSNs)., [RefSeq, PubMed]; Ectopically expressed in myeloid leukemic cells with t(4;12)(q11-q12;p13), suggesting that expression of GSH2 was deregulated by the translocation, indicating a variant leukemogenic mechanism for translocations involving the 5' end of ETV6, [RefSeq, PubMed]; Gsx2 specifies striatal projection neuron and olfactory bulb interneuron identity at distinct time points during neurogenesis in transgenic mice., [RefSeq, PubMed]; Silencing GS Homeobox 2 Alleviates Gemcitabine Resistance in Pancreatic Cancer Cells by Activating SHH/GLI1 Signaling Pathway., [RefSeq, PubMed]; This study identified and validated a three-gene (EMP3, GSX2 and EMILIN3) prognostic signature in Lower-Grade Gliomas., [RefSeq, PubMed]; Transcription factor that binds 5'-CNAATTAG-3' DNA sequence and regulates the expression of numerous genes including genes important for brain development (PubMed:31412107). During telencephalic development, causes ventralization of pallial progenitors and, depending on the developmental stage, specifies different neuronal fates. At early stages, necessary and sufficient to correctly specify the ventral lateral ganglionic eminence (LGE) and its major derivatives, the striatal projection neurons. At later stages, may specify LGE progenitors toward dorsal LGE fates, including olfactory bulb interneurons (By similarity)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0048699 generation of neurons;GO:0021772 olfactory bulb development", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9BZM3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCN4-1", "uniprot_id": [ { "id": "GPN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCN4", "type": "external" } ], "mass": 41740.0, "length": 374, "protein_name": "GPN-loop GTPase 1", "gene_name": "GPN1", "organism": "Human", "refseq_name": "GPN-loop GTPase 1 isoform b", "refseq_ac": [ { "id": "NP_001138519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138519", "type": "external" } ], "gene_names_uniprotkb": "GPN1; HUSSY-23; MBDIN; RPAP4; XAB1", "gene_names_refseq": "ATPBD1A; GPN1; MBDIN; NTPBP; RPAP4; XAB1", "protein_names_uniprotkb": "GPN-loop GTPase 1; 3.6.5.-; MBD2-interacting protein; MBDin; RNAPII-associated protein 4; XPA-binding protein 1", "protein_names_refseq": "ATP(GTP)-binding protein; GPN-loop GTPase 1 isoform b; MBD2-interacting protein; RNA polymerase II associated protein 4; RNAPII-associated protein 4; XPA binding protein 1, GTPase", "tax_id": 9606, "disease": "", "pathway": " (hsa:11321)", "pathway_count": 1, "publication_count": 98, "publication_id_list": "11058119;11124703;11237011;12588985;17643375;18220336;18669648;18691976;19748539;20068231;20855544;20864038;21406692;21768307;21844196;22223895;22424782;22898188;23186163;23481700;24275569;24397554;24715725;25241168;25418920;25576301;25645385;26154972;26811146;26929215;26992070;27600516;27846572;27920218;28063628;28153773;28228285;28832583;28834231;28904123;29242379;29314611;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30484775;30524438;30779550;30833945;31020640;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35154160;35580925;36010968;36215666;36241641;36581221;37938771;40914422", "class_list": "", "function": "Data show that GPN1/GPN3 define a new family of small GTPases that are specialized for the transport of RNA polymerase II into the nucleus., [RefSeq, PubMed]; RPAP4/GPN1 is a member of a newly discovered GTPase family that contains a highly conserved GPN loop motif that is essential, along with its GTP-binding motifs, for nuclear localization of POLR2A/RPB1 in a process that also requires microtubule assembly, [RefSeq, PubMed]; Relieves MBD2-mediated transcriptional repression and reactivates transcription from methylated promoters, [RefSeq, PubMed]; Small GTPase involved in the correct assembly of RNA polymerase II (RNAPII) complex, ensuring proper nuclear import of RNAPII. In vitro, exhibits a chaperone-like activity and a chaperone substrate protein can stimulate its GTPase activity. It is proposed to bind exposed hydrophobic peptide regions of newly synthesized RNAP II subunit, triggering the opening of a hydrophobic pocket in its GDP-bound state. This interaction likely traps exposed hydrophobic regions, preventing misassembly and providing a time window for association with the cognate RNAP II subunit. Peptide binding promotes GDP release, and increasing GTP affinity to facilitate GTP rebinding. Subsequent GTP hydrolysis would then lead to the release of the bound RNAP II subunit to enable association with cognate subunits and RNAP II assembly., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DQJ5;B4DQM4;B4DXU4;B5MBZ5;O76004", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0000993 RNA polymerase II complex binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9HCN4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14966-1", "uniprot_id": [ { "id": "RAB7L_HUMAN", "url": "https://www.uniprot.org/uniprot/O14966", "type": "external" } ], "mass": 23155.0, "length": 203, "protein_name": "Ras-related protein Rab-29", "gene_name": "RAB29", "organism": "Human", "refseq_name": "ras-related protein Rab-29 isoform 1", "refseq_ac": [ { "id": "NP_001129134", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129134", "type": "external" } ], "gene_names_uniprotkb": "RAB29; RAB7L1", "gene_names_refseq": "RAB29; RAB7L1; RAB7L", "protein_names_uniprotkb": "Ras-related protein Rab-29; 3.6.5.2; Rab-7-like protein 1; Ras-related protein Rab-7L1", "protein_names_refseq": "RAB7, member RAS oncogene family-like 1; rab-7-like protein 1; ras-related protein Rab-29 isoform 1; ras-related protein Rab-29; ras-related protein Rab-7L1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8934); (R-HSA-8873719)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "11141079;11237011;11389151;11447212;11675392;16401880;1648736;17114793;17411337;18532927;18669648;19603039;20068231;22042847;22645359;22694141;24023390;24788816;25341920;25418920;25892735;26929215;26969162;26992070;27846572;27920218;28218747;28228285;28514659;28649982;28832583;28904123;29212815;29223392;29242379;29393594;29437277;29557506;29632046;29769354;30315122;30410026;30484775;31154438;31818509;31844290;31848261;32157095;32350084;32357974;32709066;32983136;33592498;33717175;33941558;33968037;34171305;34357683;35051231;35251023;35580925;36116551;36241641;36284347;36581221;38127736;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150;9284931", "class_list": "", "function": "Association of RIT2 and RAB7L1 with Parkinson's disease: a case-control study in a Taiwanese cohort and a meta-analysis in Asian populations., [RefSeq, PubMed]; Distinct Roles for RAB10 and RAB29 in Pathogenic LRRK2-Mediated Endolysosomal Trafficking Alterations. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of RAB7L1 in Patients with Pituitary Adenomas., [RefSeq, PubMed]; The atypical Rab GTPase associated with Parkinson's disease, Rab29, is localized to membranes., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:24788816). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). RAB29 is essential for maintaining the integrity of the endosome-trans-Golgi network structure (By similarity). Together with LRRK2, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner (PubMed:24788816). Recruits LRRK2 to the Golgi complex and stimulates LRRK2 kinase activity (PubMed:29212815, PubMed:38127736). Stimulates phosphorylation of RAB10 'Thr-73' by LRRK2 (PubMed:38127736). Regulates neuronal process morphology in the intact central nervous system (CNS) (By similarity). May play a role in the formation of typhoid toxin transport intermediates during Salmonella enterica serovar Typhi (S.typhi) epithelial cell infection (PubMed:22042847)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4E1K3;C9JE77", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0019209 kinase activator activity;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0097708 intracellular vesicle;GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005769 early endosome", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0030154 cell differentiation;GO:0090316 positive regulation of intracellular protein transport;GO:0042110 T cell activation;GO:0009617 response to bacterium", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "O14966-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZZ8-1", "uniprot_id": [ { "id": "LACRT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZZ8", "type": "external" } ], "mass": 14246.0, "length": 138, "protein_name": "Extracellular glycoprotein lacritin", "gene_name": "LACRT", "organism": "Human", "refseq_name": "extracellular glycoprotein lacritin precursor", "refseq_ac": [ { "id": "NP_150593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150593", "type": "external" } ], "gene_names_uniprotkb": "LACRT", "gene_names_refseq": "LACRT", "protein_names_uniprotkb": "Extracellular glycoprotein lacritin", "protein_names_refseq": "extracellular glycoprotein lacritin precursor; extracellular glycoprotein lacritin", "tax_id": 9606, "disease": "", "pathway": " (hsa:90070)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "40667337;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11237011;11419941;12613904;14574570;15851553;15952718;16740002;22661428;23584533;25813380;25946035;26375851;28419103;29557506;31092671;31154438;31611695;32274735;32983136;33187980", "class_list": "", "function": "Data show increased levels of lysozyme C (LYZ), lacritin (LACRT) and zinc-alpha-2 glycoprotein 1 (AZGP1) in pooled tear fluid sample from Graves' disease (GD) patients with moderate-to-severe Graves' orbitopathy (GO) compared with GD patients without clinical signs of GO. Publication Status: Online-Only, [RefSeq, PubMed]; Expressed in human breast tumors, breast cancer cell lines, and normal breast, [RefSeq, PubMed]; Lacritin gene maps near but not within triple A syndome region. Alacrimia in triple a syndrome not due to mutation in lacritin gene., [RefSeq, PubMed]; Lacritin is one of nine tear proteins downregulated in patients suffering from blepharitis, or inflammation of the eyelid often associated with dry eye., [RefSeq, PubMed]; Lacritin is the sixth most common transcript in the human lacrimal gland based on EST sequencing, and is one of twenty-nine 'lacrimal preferred' genes., [RefSeq, PubMed]; Lacritin proteoforms prevent tear film collapse and maintain epithelial homeostasis., [RefSeq, PubMed]; Modulates secretion by lacrimal acinar cells., [UniProtKB]; The Lacritin-Syndecan-1-Heparanase Axis in Dry Eye Disease Review article, [RefSeq, PubMed]; The protein encoded by this gene is highly expressed in the lacrimal glands and localized primarily to secretory granules and secretory fluid. It augments lacrimal acinar cell secretion, promotes ductal cell proliferation, and stimulates signaling through tyrosine phosphorylation and release of calcium. [provided by RefSeq, Jul 2008]., [RefSeq]; Tissue microarray of seventy-five different human tissues, including mammary gland, detected expression only in lacrimal acinar and salivary ductal cells. Thyroid immunostaining was equivocal. These data agree with Clonetech RNA dot blot analysis. GeneRIF: Lacritin is detected in human tears and promotes tear secretion in vitro when added to rat lacrimal acinar cells via a pathway apparently independent of the M3 receptor. It is mitogenic at low ng/ml levels for salivary ductal cells. GeneRIF: Lacritin binds several basment membrane components (collagen IV, nidogen, fibronectin, laminin-1). Also vitronectin, but not collagen I or heparin. Yet it is secreted apically and possibly may form non-covalent complexes with tear fibronectin., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 18, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 14, "disease_count": 0, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005518 collagen binding;GO:0008083 growth factor activity;GO:0043237 laminin-1 binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0019722 calcium-mediated signaling;GO:0043066 negative regulation of apoptotic process;GO:0050850 positive regulation of calcium-mediated signaling;GO:0051047 positive regulation of secretion", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9GZZ8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50914-1", "uniprot_id": [ { "id": "RL14_HUMAN", "url": "https://www.uniprot.org/uniprot/P50914", "type": "external" } ], "mass": 23432.0, "length": 215, "protein_name": "Large ribosomal subunit protein eL14", "gene_name": "RPL14", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL14", "refseq_ac": [ { "id": "NP_001030168", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001030168", "type": "external" } ], "gene_names_uniprotkb": "RPL14", "gene_names_refseq": "CAG-ISL-7; CTG-B33; L14; RL14; RPL14; eL14; hRL14", "protein_names_uniprotkb": "Large ribosomal subunit protein eL14; 60S ribosomal protein L14; CAG-ISL 7", "protein_names_refseq": "60S ribosomal protein L14; large ribosomal subunit protein eL14", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:9045); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 17, "publication_count": 286, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11401437;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12962325;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16565220;16601204;16622410;16630668;16738141;16989641;17053788;17081983;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;17924679;18065403;18066079;18166647;18212344;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18691976;18974281;18991276;19007248;19060897;19106111;19150429;19332556;19359157;19369195;19415658;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19664995;19690332;19691289;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21406692;21419344;22072790;22190735;22195017;22916032;23085078;23186163;23217742;23234702;23269699;23439679;23482395;23636399;23685075;23746841;23783831;2388630;24424021;24524803;24550520;24714562;24715725;25132172;25218447;25242263;25418920;25502872;25525153;25576301;25578875;25969445;26154972;26237581;26728094;26758079;26811146;26992070;27452731;27526673;27600516;27846572;27862975;27920218;28063628;28065601;28132843;28218747;28228285;28467828;28510447;28514659;28685749;28832583;28904123;29242379;29314611;29317506;29331515;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632312;29632711;29786170;29789417;30244831;30293783;30315122;30429286;30444036;30524438;30804176;31011209;31154438;31217245;31717259;31844290;31848261;31998317;32099016;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32579943;32669547;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33406423;33592498;33691108;33909987;33912179;33936100;33968037;34019948;34057029;34087483;34171305;34211107;34357683;35051231;35083852;35138101;35251023;35561310;35580925;36010968;36284347;36302773;37217939;37676773;37938771;38665916;39395807;40914422;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8549859;8890909;9211906;9431993;9480843;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed, PubMed]; Human/eukaryotic ribosomal protein L14 (RPL14/eL14) overexpression represses proliferation, migration, invasion and EMT process in nasopharyngeal carcinoma., [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5'-terminal exons exist but all encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q45RF0;Q53G20;Q8TBD5;Q8WUT0;Q92579;Q96GR0;Q9BSB8;Q9BW65;Q9BYF6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0045296 cadherin binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0014069 postsynaptic density;GO:0016020 membrane", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0042273 ribosomal large subunit biogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction", "synthesized_glycan_count": 0, "hit_score": 28.9, "record_id": "P50914-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26006-2", "uniprot_id": [ { "id": "ITA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P26006", "type": "external" } ], "mass": 116612.0, "length": 1051, "protein_name": "Integrin alpha-3", "gene_name": "ITGA3", "organism": "Human", "refseq_name": "integrin alpha-3 preproprotein", "refseq_ac": [ { "id": "NP_002195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002195", "type": "external" } ], "gene_names_uniprotkb": "ITGA3; MSK18", "gene_names_refseq": "CD49C; FRP-2; GAP-B3; GAPB3; ILNEB; ITGA3; JEB7; MSK18; VCA-2; VL3A; VLA3a", "protein_names_uniprotkb": "Integrin alpha-3; CD49 antigen-like family member C; FRP-2; GAPB3; Galactoprotein B3; VLA-3 subunit alpha", "protein_names_refseq": "CD49 antigen-like family member C; antigen identified by monoclonal antibody J143; galactoprotein B3; integrin alpha 3; integrin alpha-3 preproprotein; integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor); testicular tissue protein Li 96; testicular tissue protein Li 98; very late activation protein 3 receptor, alpha-3 subunit; very late activation receptor subunit alpha-3", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); epilepsy (Disease Ontology:DOID:1826); glomerulonephritis (Disease Ontology:DOID:2921); junctional epidermolysis bullosa (Disease Ontology:DOID:3209); myocardial infarction (Disease Ontology:DOID:5844); epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome (MONDO:MONDO:0013881)", "pathway": " (hsa:3675); (R-HSA-210991); (R-HSA-216083); (R-HSA-3000157); (R-HSA-8874081)", "pathway_count": 5, "publication_count": 175, "publication_id_list": "37268159;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10209034;10366422;10438935;10455171;10521801;10543983;10593924;10605720;10640428;10673366;10713152;10811134;10880960;10921872;10982388;11054877;11158588;11518510;11572855;11713259;11719518;11943775;11964076;11980922;12237301;12496264;12558975;12585966;12682293;12807887;14596610;14707126;15181153;15240572;15330449;15345499;15383545;15611341;15713743;1588291;15899827;15901826;15946952;16002701;16051604;16239428;16260747;16413178;1655803;16581764;16731529;16754661;16782899;16933105;1714443;17339034;17574028;17968485;17996943;18083107;18578522;18710925;18775695;19502598;20033473;2010551;20705068;20802513;21136679;22493504;22512483;22539938;22869377;22884367;23090970;23345538;23374253;24190977;24480479;25576301;25645385;25810266;25813380;25880248;26811146;26992070;27600516;27717396;27846572;27862975;28510447;28832583;28904123;29242379;29331515;29557506;29741879;29786170;3033641;30429286;30484775;30779550;30833945;31154438;31222486;31844290;31848261;32157095;32161166;32357974;32387766;32487760;32488085;32897882;32938616;32983136;33214551;33298915;33592498;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34405274;34509645;34725712;35051231;35289036;35318648;35580925;35970081;36010968;36215666;36241641;36284347;36843258;37074911;37831759;38253038;38665916;38755258;3997977;40596516;41018975;7505120;7509446;7525578;7541634;7542249;7559467;7685013;8054685;8118028;8187758;8344274;8560266;8798654;8838667;8910476;9111516;9245798;9251239;9360995;9417118;9443892;9565552;9645947;9858236", "class_list": "glycogene;glycosyltransferase", "function": "(Microbial infection) Integrin ITGA3:ITGB1 may act as a receptor for R.delemar CotH7 in alveolar epithelial cells, which may be an early step in pulmonary mucormycosis disease progression., [UniProtKB, PubMed]; Early-stage lung cancer is driven by a transitional cell state dependent on a KRAS-ITGA3-SRC axis., [RefSeq, PubMed]; Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration., [UniProtKB, PubMed, PubMed]; Integrin alpha3 Mediates Stemness and Invasion of Glioblastoma by Regulating POU3F2., [RefSeq, PubMed]; Integrin alpha3 promotes TH17 cell polarization and extravasation during autoimmune neuroinflammation., [RefSeq, PubMed]; The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015]., [RefSeq]; YY1/ITGA3 pathway may affect trophoblastic cells migration and invasion ability., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 12, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 12, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 12, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 12, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1173, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 98, "disease_count": 6, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "A7E246;B7ZM80;B9EGQ1;D3DTX4;D3DTX5", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface", "go_biological_process": "GO:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:0072006 nephron development;GO:0007229 integrin-mediated signaling pathway;GO:0030324 lung development;GO:0035640 exploration behavior", "synthesized_glycan_count": 0, "hit_score": 29.2, "record_id": "P26006-2", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08514-1", "uniprot_id": [ { "id": "ITA2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P08514", "type": "external" } ], "mass": 113377.0, "length": 1039, "protein_name": "Integrin alpha-IIb", "gene_name": "ITGA2B", "organism": "Human", "refseq_name": "integrin alpha-IIb preproprotein", "refseq_ac": [ { "id": "NP_000410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000410", "type": "external" } ], "gene_names_uniprotkb": "ITGA2B; GP2B; ITGAB", "gene_names_refseq": "BDPLT16; BDPLT2; CD41B; CD41; FMAIT2; GP2B; GPIIb; GT1; GTA; GT; HPA3; ITGA2B; PPP1R93", "protein_names_uniprotkb": "Integrin alpha-IIb; GPIIb; GPalpha IIb; Platelet membrane glycoprotein IIb", "protein_names_refseq": "GPalpha IIb; alphaIIb protein; integrin alpha-IIb preproprotein; integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41); platelet fibrinogen receptor, alpha subunit; platelet membrane glycoprotein IIb; platelet-specific antigen BAK; protein phosphatase 1, regulatory subunit 93", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); von Willebrand's disease 1 (Disease Ontology:DOID:0060573); von Willebrand's disease 2 (Disease Ontology:DOID:0060574); platelet-type bleeding disorder 16 (Disease Ontology:DOID:0060691); intellectual disability (Disease Ontology:DOID:1059); thrombocytopenia (Disease Ontology:DOID:1588); Glanzmann's thrombasthenia (Disease Ontology:DOID:2219); severe acute respiratory syndrome (Disease Ontology:DOID:2945); fetomaternal alloimmune thrombocytopenia 2 (MONDO:MONDO:0980724)", "pathway": " (hsa:3674); (R-HSA-114608); (R-HSA-216083); (R-HSA-3000178); (R-HSA-354192); (R-HSA-354194); (R-HSA-372708); (R-HSA-445144); (R-HSA-5674135); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-8936459); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9769733)", "pathway_count": 17, "publication_count": 360, "publication_id_list": "10022829;10209034;10209122;10212286;10339611;10366422;10391209;10409742;10438935;10446041;10477286;10543983;10593924;10605720;10607701;10611478;10617663;10640428;10673326;10673366;10713152;10725339;10777559;10811134;10818153;10891492;10896934;10964917;10982388;11084047;11158588;11237011;11259413;11325826;11476890;11518510;11572855;11713259;11798398;11802164;11802165;11940607;11980922;12005431;12068308;12083483;12181054;12225811;12424194;12456642;12473660;12477717;12479806;12483298;12496264;12506038;12576332;12585966;12640026;12682293;12807887;12832465;1376317;1435334;14516468;14630798;14636584;14715956;14718570;14754902;14970219;15035987;15075323;15099289;15118098;15157149;15219201;15239952;15240572;15260967;15296743;15297306;15330449;15334074;15345499;15378069;15383545;1544908;15469846;15520807;15543157;15547943;15569236;15597056;15630448;15713743;1588291;15899827;16002701;16005629;16040750;16051604;16076873;16115959;16135787;16239428;16293224;16335952;16364920;16493581;16508002;16581250;16628190;16702958;16731529;16754661;16757337;16879721;16919435;16933105;17018384;17018604;17145850;1716897;17178906;17218263;1722201;17253643;17339034;17496912;17563371;17588949;17603482;17603483;17624957;17968485;18222703;18287029;18316480;18331836;18434644;18555990;18559533;18562239;18710925;18775695;18974108;19091303;19111664;19114653;19219045;19242111;19279408;19467855;19502598;19509293;1953640;19821948;19933846;20020534;20033473;20052757;2010551;20130576;20141835;20179705;20339092;20526349;2059554;20705068;20818844;20858867;20876458;21107323;21129147;21252065;21388953;21424530;21454453;21514245;21639808;21642437;21725049;21779496;21784453;21789315;21993244;22043453;22113612;22134916;22177953;2226834;22283712;22292133;22356324;22395615;22510884;22539938;22569528;22589270;22730538;22745804;22777353;22779914;22826437;22884367;2295682;23090970;23171796;2322558;23288408;23305224;23352452;23374253;23453624;2345548;2350579;2351656;23583981;23614898;23640497;2364322;23667175;23680146;23875798;23929305;23934108;23954936;24121058;2412224;24135138;2420006;24202393;2430969;24345920;2439501;24651010;24746704;2476117;24937142;24957944;25195011;25204415;25313996;25435214;25907612;26010396;26154972;26214590;27227380;27363989;2742826;27543614;2775232;27862975;2845986;2866798;28832583;28939558;29314611;29467321;29493099;29557506;29632711;29769354;30034615;30459171;30794926;31611695;3287375;32897882;32983136;3422188;3479442;35051231;3534886;35494241;35580925;36284347;37210732;37938771;3801670;38579706;38951065;6193777;6439184;6457647;7197082;7356959;7499434;7505120;7508443;7513017;7525578;7527058;7541634;7542249;7542669;7559467;7565670;7565795;7620155;7685013;7688323;7693733;7706461;7731720;7852349;7878622;7929275;7935411;7997267;8002934;8051079;8118028;8157000;8282784;8344274;8388392;8440685;8467233;8509458;8560266;8592152;8620874;8621540;8631894;8649368;8704171;8755247;8798654;8838667;8910476;8943283;9020159;9030514;9111081;9215749;9251239;9252349;9294172;9341124;9346959;9351824;9396761;9443892;9473221;9565552;9566877;9685393;9722314;9733512;9734640;9763559;9809974;9834222;9858236;9858547;9920835;9949188", "class_list": "", "function": "Full-length alphaIIbbeta3 cryo-EM structure reveals intact integrin initiate-activation intrinsic architecture., [RefSeq, PubMed]; Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain (By similarity). Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen (PubMed:9111081). This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface (By similarity). Integrin ITGA2B:ITGB3 is also the receptor of erythrocyte-specific ICAM4 ligand involved in heterotypic cell-cell adhesion between erythrocytes and activated platelets (PubMed:12477717)., [UniProtKB, PubMed, UniProtKB, PubMed]; Molecular dynamics simulations corroborate recombinant expression studies carried out on three alphaIIb beta-propeller mutations reported in Indian Glanzmann thrombasthenia patients., [RefSeq, PubMed]; Studies indicate that Glanzmann thrombasthenia (GT) is caused by quantitative or qualitative deficiencies of alphaIIbbeta3, an integrin coded by the ITGA2B and ITGB3 genes. Review article, [RefSeq, PubMed]; This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]., [RefSeq]; [Pedigree Analysis and Molecular Mechanism Study of Hereditary Glanzmann Thrombasthenia Caused by Compound Heterozygous Mutation of the ITGA2B Gene]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 4, "disease_count": 9, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2RCY8;O95366;Q14443;Q17R67", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0050840 extracellular matrix binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0001525 angiogenesis;GO:0007229 integrin-mediated signaling pathway;GO:0007160 cell-matrix adhesion;GO:0033631 cell-cell adhesion mediated by integrin;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 37.1, "record_id": "P08514-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IQ22-1", "uniprot_id": [ { "id": "RAB12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IQ22", "type": "external" } ], "mass": 27248.0, "length": 244, "protein_name": "Ras-related protein Rab-12", "gene_name": "RAB12", "organism": "Human", "refseq_name": "ras-related protein Rab-12", "refseq_ac": [ { "id": "NP_001020471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020471", "type": "external" } ], "gene_names_uniprotkb": "RAB12", "gene_names_refseq": "RAB12", "protein_names_uniprotkb": "Ras-related protein Rab-12; 3.6.5.2", "protein_names_refseq": "putative Ras-related protein Rab-12; ras-related protein Rab-12", "tax_id": 9606, "disease": "Smith-McCort dysplasia (Disease Ontology:DOID:0060247); Dyggve-Melchior-Clausen disease (Disease Ontology:DOID:0111167)", "pathway": " (hsa:201475); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 241, "publication_id_list": "10818110;10990452;11038176;11141079;11179213;11237011;11389151;11447212;11516400;11675392;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16401880;16410077;1648736;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17114793;17132146;17189207;17208202;17239822;17287728;17411337;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18532927;18559336;18578522;18585354;18664496;18669648;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19413330;19490898;19603039;19620288;19656848;19664994;19664995;19725050;19729655;19745841;20008558;20058876;20068231;20154091;20159109;20159556;20166139;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21194374;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22223895;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22694141;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23645161;23678941;23684622;23713133;23839779;24023390;24296415;24644286;24694596;24703428;24714562;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25576301;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26824392;26925400;26936971;26969162;27041585;27044746;27103185;27246931;27329675;28228285;28249939;28860483;28904123;29125462;29242379;29352104;29557506;30315122;30410026;31844290;32157095;32983136;33592498;34171305;34357683;35051231;36284347;36739948;37207563;37874617;38920696;7688123;7911226;7957092;7991565;8144603;8164745;8349690;8375503;8408203;8513495;8522602;8631982;8662963;8836150;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "A novel signaling pathway identified whereby starvation-induced activation of ULK leads to phosphorylation of endogenous DENND3, with subsequent activation of Rab12 and initiation of membrane trafficking events required for autophagy, [RefSeq, PubMed]; DENND3 is the exchange factor for the small GTPase Rab12 regulated through an intramolecular interaction, [RefSeq, PubMed]; Findings demonstrate the functional importance of Rab12 for retrograde toxin trafficking, [RefSeq, PubMed]; LRRK2-mediated phosphorylation and thermal stability of Rab12 are regulated by bound nucleotides., [RefSeq, PubMed]; Rab12 is a regulator of LRRK2 and its activation by damaged lysosomes. Publication Status: Online-Only, [RefSeq, PubMed]; Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia. Publication Status: Online-Only, [RefSeq, PubMed]; Show that DENND3 binds actin through a surface of positively charged residues on the PHenn domain of Ran12, [RefSeq, PubMed]; The clathrin adaptor complex-1 and Rab12 regulate post-golgi trafficking of WT epidermal growth factor receptor (EGFR)., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). RAB12 may play a role in protein transport from recycling endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor. Involved in autophagy (By similarity)., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NEF5;Q4KMQ3", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005764 lysosome", "go_biological_process": "GO:0015031 protein transport;GO:0006914 autophagy;GO:0008333 endosome to lysosome transport;GO:0006887 exocytosis;GO:0030163 protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 24.2, "record_id": "Q6IQ22-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75663-1", "uniprot_id": [ { "id": "TIPRL_HUMAN", "url": "https://www.uniprot.org/uniprot/O75663", "type": "external" } ], "mass": 31444.0, "length": 272, "protein_name": "TIP41-like protein", "gene_name": "TIPRL", "organism": "Human", "refseq_name": "TIP41-like protein isoform 2", "refseq_ac": [ { "id": "NP_001026970", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026970", "type": "external" } ], "gene_names_uniprotkb": "TIPRL", "gene_names_refseq": "TIP41; TIPRL1; TIPRL; TIP", "protein_names_uniprotkb": "TIP41-like protein; Putative MAPK-activating protein PM10; TIP; Type 2A-interacting protein", "protein_names_refseq": "TIP41, TOR signaling pathway regulator-like; TIP41-like protein isoform 2; TIP41-like protein; putative MAPK-activating protein PM10; type 2A-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:261726)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "12761501;16085932;17384681;17944932;18083107;19064610;19608861;22424782;23186163;23301498;23481700;24715725;25418920;25576301;25880248;26154972;26717153;26992070;27489114;27600516;27846572;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29437277;29493099;29632046;29632711;30087317;30315122;30410026;30429286;30779550;31154438;31222486;31530632;31727942;31844290;31862913;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35132862;35154160;35251023;35580925;35705054;36010968;36215666;36241641;36284347;38665916;38888871;40914422", "class_list": "", "function": "MPC2 rs10489202 was genome-wide significantly associated with schizophrenia. The expression quantitative trait loci analysis in lymphoblastoid cell lines from East Asian donors revealed that MPC2 rs10489202 was specifically and significantly associated with the expression of TIPRL gene. Publication Status: Online-Only, [RefSeq, PubMed]; May be a allosteric regulator of serine/threonine-protein phosphatase 2A (PP2A). Isoform 1 inhibits catalytic activity of the PP2A(D) core complex in vitro. The PP2A(C):TIPRL complex does not show phosphatase activity. Acts as a negative regulator of serine/threonine-protein phosphatase 4 probably by inhibiting the formation of the active PPP4C:PPP4R2 complex; the function is proposed to implicate it in DNA damage response by promoting H2AX phosphorylated on Ser-140 (gamma-H2AX). May play a role in the regulation of ATM/ATR signaling pathway controlling DNA replication and repair., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TIPRL is an inhibitory regulator of protein phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 612725) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM, Nov 2010]., [RefSeq]; TIPRL potentiates survival of lung cancer by inducing autophagy through the eIF2alpha-ATF4 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; TIPRL, a Potential Double-edge Molecule to be Targeted and Re-targeted Toward Cancer. Review article, [RefSeq, PubMed]; The positive correlation of TIPRL with LC3 and CD133 contributes to cancer aggressiveness: potential biomarkers for early liver cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R8V3;Q5HYB2;Q8IZ86", "ec_number_list": [], "go_molecular_function": "GO:0004864 protein phosphatase inhibitor activity;GO:0072542 protein phosphatase activator activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0031929 TOR signaling;GO:0000077 DNA damage checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "O75663-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96L11-1", "uniprot_id": [ { "id": "LCFC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96L11", "type": "external" } ], "mass": 13527.0, "length": 122, "protein_name": "Sperm-egg fusion protein LLCFC1", "gene_name": "LLCFC1", "organism": "Human", "refseq_name": "sperm-egg fusion protein LLCFC1 precursor", "refseq_ac": [ { "id": "NP_001369425", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001369425", "type": "external" } ], "gene_names_uniprotkb": "LLCFC1; C7orf34; SOF1", "gene_names_refseq": "C7orf34; LLCFC1; SOF1; SOFU1; ctm-1", "protein_names_uniprotkb": "Sperm-egg fusion protein LLCFC1; LLLL and CFNLAS motif-containing protein 1; MSSP-binding protein CTM-1; Sperm-oocyte fusion required protein 1", "protein_names_refseq": "LLLL and CFNLAS motif containing 1; LLLL and CFNLAS motif-containing protein 1; MSSP-binding protein CTM-1; sperm-egg fusion protein LLCFC1 precursor; sperm-egg fusion protein LLCFC1; sperm-oocyte fusion required 1; sperm-oocyte fusion required protein 1; uncharacterized protein C7orf34", "tax_id": 9606, "disease": "", "pathway": " (hsa:135927)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;26871637;31154438;33091337", "class_list": "", "function": "Sperm protein required for fusion of sperm with the egg membrane during fertilization., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0G2JPS5;A0A0S2Z637;A4D2H8;C9JTW1;Q8TDV6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q96L11-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUV9-1", "uniprot_id": [ { "id": "GIMA4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUV9", "type": "external" } ], "mass": 37534.0, "length": 329, "protein_name": "GTPase IMAP family member 4", "gene_name": "GIMAP4", "organism": "Human", "refseq_name": "GTPase IMAP family member 4 isoform 1", "refseq_ac": [ { "id": "NP_060796", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060796", "type": "external" } ], "gene_names_uniprotkb": "GIMAP4; IAN1; IMAP4; MSTP062", "gene_names_refseq": "GIMAP4; IAN-1; IAN1; IMAP4; MSTP062", "protein_names_uniprotkb": "GTPase IMAP family member 4; IAN-1; Immunity-associated nucleotide 1 protein; Immunity-associated protein 4; hIAN1", "protein_names_refseq": "GTPase IMAP family member 4 isoform 1; human immune associated nucleotide 1; immune-associated nucleotide-binding protein 1; immunity associated protein 4; immunity-associated nucleotide 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55303)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;11964296;16509771;20237496;23041938;23454188;24715725;25287446;25576301;26154972;26992070;27846572;28228285;28832583;29242379;29493099;29557506;29632711;29786170;29789417;30315122;30429286;31154438;31844290;31848261;32157095;32983136;33298915;33912179;35051231;35580925;36246963;37938771;40914422", "class_list": "", "function": "During thymocyte development, may play a role in the regulation of apoptosis (By similarity). GTPase which exhibits a higher affinity for GDP than for GTP., [UniProtKB, UniProtKB]; GIMAP4 regulates secretion of cytokines in early differentiating human CD4(+) T helper lymphocytes and in particular the secretion of interferon-gamma also affecting its downstream targets., [RefSeq, PubMed]; Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease, [RefSeq, PubMed]; Molecular and genetic properties; expression in resting T- and B-cells and decreased expression during lymphocyte activation, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Prognostic Value of GIMAP4 and Its Role in Promoting Immune Cell Infiltration into Tumor Microenvironment of Lung Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9NUV9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43772-1", "uniprot_id": [ { "id": "MCAT_HUMAN", "url": "https://www.uniprot.org/uniprot/O43772", "type": "external" } ], "mass": 32944.0, "length": 301, "protein_name": "Mitochondrial carnitine/acylcarnitine carrier protein", "gene_name": "SLC25A20", "organism": "Human", "refseq_name": "mitochondrial carnitine/acylcarnitine carrier protein", "refseq_ac": [ { "id": "NP_000378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378", "type": "external" } ], "gene_names_uniprotkb": "SLC25A20; CACT; CAC", "gene_names_refseq": "CACT; CAC; SLC25A20", "protein_names_uniprotkb": "Mitochondrial carnitine/acylcarnitine carrier protein; CACT; CAC; Carnitine/acylcarnitine translocase; Solute carrier family 25 member 20", "protein_names_refseq": "mitochondrial carnitine/acylcarnitine carrier protein; solute carrier family 25 (carnitine/acylcarnitine translocase), member 20", "tax_id": 9606, "disease": "carnitine-acylcarnitine translocase deficiency (Disease Ontology:DOID:0111585); lipid metabolism disorder (Disease Ontology:DOID:3146)", "pathway": " (hsa:788); (R-HSA-200425)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10559218;10677481;11237011;11356169;11790793;12859414;12892634;14517221;14711372;15057979;15060529;15365988;17223360;18307102;18556348;20233797;20347717;20457939;20538056;22123817;22871568;24277613;25418920;26828774;28228285;28832583;29242379;29557506;30315122;31530632;31844290;32938616;33298915;33912179;34357683;34449152;34561969;34626609;34932366;37371573;38565514;40914422;7711730;9048718;9099716;9344464;9399886;9685390;9691089;9706223;9837782", "class_list": "", "function": "Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant., [RefSeq, PubMed]; Inhibition of the Mitochondrial Carnitine/Acylcarnitine Carrier by Itaconate through Irreversible Binding to Cysteine 136: Possible Pathophysiological Implications. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates the electroneutral exchange of acylcarnitines (O-acyl-(R)-carnitine or L-acylcarnitine) of different acyl chain lengths (ranging from O-acetyl-(R)-carnitine to long-chain O-acyl-(R)-carnitines) with free carnitine ((R)-carnitine or L-carnitine) across the mitochondrial inner membrane, via a ping-pong mechanism (Probable) (PubMed:12892634, PubMed:18307102). Key player in the mitochondrial oxidation pathway, it translocates the fatty acids in the form of acylcarnitines into the mitochondrial matrix, where the carnitine palmitoyltransferase 2 (CPT-2) activates them to undergo fatty acid beta-oxidation (Probable). Catalyzes the unidirectional transport (uniport) of carnitine at lower rates than the antiport (exchange) (PubMed:18307102)., [UniProtKB, PubMed, PubMed, PubMed]; Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia., [RefSeq, PubMed]; This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]., [RefSeq]; [Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7F4;Q9UIQ2", "ec_number_list": [], "go_molecular_function": "GO:0005476 carnitine:O-acyl-L-carnitine antiporter activity;GO:0015227 O-acyl-L-carnitine transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005740 mitochondrial envelope;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006839 mitochondrial transport;GO:0006853 carnitine shuttle;GO:1902603 carnitine transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O43772-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95140-1", "uniprot_id": [ { "id": "MFN2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95140", "type": "external" } ], "mass": 86402.0, "length": 757, "protein_name": "Mitofusin-2", "gene_name": "MFN2", "organism": "Human", "refseq_name": "mitofusin-2", "refseq_ac": [ { "id": "NP_001121132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121132", "type": "external" } ], "gene_names_uniprotkb": "MFN2; CPRP1; KIAA0214", "gene_names_refseq": "CMT2A2A; CMT2A2B; CMT2A2; CMT2A; CPRP1; HMSN6A; HSG; MARF; MFN2; MSL", "protein_names_uniprotkb": "Mitofusin-2; 3.6.5.-; Transmembrane GTPase MFN2", "protein_names_refseq": "hyperplasia suppressor; mitochondrial assembly regulatory factor; mitofusin-2; transmembrane GTPase MFN2", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 2 (Disease Ontology:DOID:0050539); Charcot-Marie-Tooth disease type 6 (Disease Ontology:DOID:0080068); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Charcot-Marie-Tooth disease type 2A2A (Disease Ontology:DOID:0110155); Charcot-Marie-Tooth disease type 2A2B (Disease Ontology:DOID:0111557); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); prediabetes syndrome (Disease Ontology:DOID:11716); carotid stenosis (Disease Ontology:DOID:13001); multiple symmetric lipomatosis (Disease Ontology:DOID:14116); primary pulmonary hypertension (Disease Ontology:DOID:14557); depressive disorder (Disease Ontology:DOID:1596); transient cerebral ischemia (Disease Ontology:DOID:224); pulmonary fibrosis (Disease Ontology:DOID:3770); myocardial infarction (Disease Ontology:DOID:5844); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9927); (R-HSA-5205685); (R-HSA-9013419); (R-HSA-983231)", "pathway_count": 4, "publication_count": 168, "publication_id_list": "11042108;11062261;11181170;11237011;11242053;11744692;11751636;11895428;11950885;12032298;12134158;12427746;12499352;12598526;12759376;15020713;15064763;15247287;15322553;15549395;15710388;16054028;16087932;1630448;16437557;16630562;16762064;16835246;17027967;17121834;17196961;18425620;18458227;18946002;19293402;19432818;19889647;20008656;20068231;20126261;20350294;20530532;20627800;20712405;21115803;21194381;21617041;21715711;218813;22206013;22706990;22748923;23481700;23620051;24604904;24627108;24660806;24714562;24715725;24751536;24784582;25008184;25418920;25474007;25527497;25576301;25645385;25802875;26085578;26116755;26154972;26214738;26316991;26365381;26728094;26845023;26929215;26955893;26992070;27035970;27247382;27600516;27846572;27920218;28114303;28218747;28228285;28414270;28514659;28832583;28834231;28904123;29242379;29393594;29394115;29437277;29508533;29557506;29632046;29676259;29694881;29769354;29786170;29995846;30111583;30217973;30315122;30410026;30429286;30513825;30524438;30779550;30887444;31020640;31092671;31217245;31479585;31664033;31844290;32157095;32265295;32296703;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;3409321;34171305;34193129;34211107;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37938771;38287189;38843396;38946424;38960059;8662638;8816476;9065479;9230307;9326583;9331217;9422515;9927674", "class_list": "", "function": "Drp1 and Mfn2, but not other proteins implicated in the regulation of mitochondrial morphology, colocalize with Bax in apoptotic foci, [RefSeq, PubMed]; MiR-373-3p promotes aerobic glycolysis in colon cancer cells by targeting MFN2., [RefSeq, PubMed]; Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, PubMed:19889647, PubMed:26214738, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:28114303). Overexpression induces the formation of mitochondrial networks (PubMed:28114303). Membrane clustering requires GTPase activity and may involve a major rearrangement of the coiled coil domains (Probable). Plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes (By similarity). Plays an important role in the regulation of vascular smooth muscle cell proliferation (By similarity). Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) (PubMed:23620051). Is required for PRKN recruitment to dysfunctional mitochondria (PubMed:23620051). Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress (By similarity). Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Results show that Fzo homologs mitofusin 1 and 2 are ubiquitous mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting., [RefSeq, PubMed]; The circular RNA circSLC16A10 alleviates diabetic retinopathy by improving mitochondrial function via the miR-761-5p/MFN2 axis., [RefSeq, PubMed]; This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 20, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K1B3;O95572;Q5JXC3;Q5JXC4;Q9H131;Q9NSX8", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:0046580 negative regulation of Ras protein signal transduction;GO:0006915 apoptotic process;GO:0006626 protein targeting to mitochondrion;GO:1904707 positive regulation of vascular associated smooth muscle cell proliferation;GO:0034497 protein localization to phagophore assembly site", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "O95140-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D126-1", "uniprot_id": [ { "id": "ISPD_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D126", "type": "external" } ], "mass": 49873.0, "length": 451, "protein_name": "D-ribitol-5-phosphate cytidylyltransferase", "gene_name": "CRPPA", "organism": "Human", "refseq_name": "D-ribitol-5-phosphate cytidylyltransferase isoform b", "refseq_ac": [ { "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887", "type": "external" } ], "gene_names_uniprotkb": "CRPPA; ISPD", "gene_names_refseq": "CRPPA; ISPD; LGMDR20; MDDGA7; MDDGC7; Nip; hISPD", "protein_names_uniprotkb": "D-ribitol-5-phosphate cytidylyltransferase; 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein; 2.7.7.40; Isoprenoid synthase domain-containing protein; hISPD", "protein_names_refseq": "2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein; 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog; D-ribitol-5-phosphate cytidylyltransferase isoform b; D-ribitol-5-phosphate cytidylyltransferase; isoprenoid synthase domain containing; notch1-induced protein; testicular tissue protein Li 97", "tax_id": 9606, "disease": "Walker-Warburg syndrome (Disease Ontology:DOID:0050560); autosomal recessive limb-girdle muscular dystrophy type 2U (Disease Ontology:DOID:0110295); congenital muscular dystrophy-dystroglycanopathy type A7 (Disease Ontology:DOID:0111234)", "pathway": " (hsa:729920); (R-HSA-9939291)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10545611;11237011;11592034;11709191;11741828;12966029;14627679;15121789;17030669;17034757;17044012;18195152;19587235;22223806;22522420;22522421;23125099;23217329;23288328;23359570;23390185;24120487;25279697;25279699;26687144;26923585;27130732;27194101;27234031;27493216;27600516;27601598;27733679;27909055;29477842;31909476;31949166;32149355;32157095;32488085;33290265;34015330;35051231;36010968", "class_list": "glycogene", "function": "A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients., [RefSeq, PubMed]; Cytidylyltransferase required for protein O-linked mannosylation (PubMed:22522420, PubMed:22522421, PubMed:26687144, PubMed:26923585, PubMed:27130732, PubMed:27601598). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate (PubMed:26687144, PubMed:26923585, PubMed:27130732). CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:26687144, PubMed:26923585, PubMed:27130732). Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved in dolichol production (PubMed:26687144)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Cytidylyltransferase required for protein O-linked mannosylation. Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate. CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively. Not involved in dolichol production., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Hsa_circ_0079480 promotes tumor progression in acute myeloid leukemia via miR-654-3p/HDGF axis., [RefSeq, PubMed]; ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan. Publication Status: Online-Only, [RefSeq, PubMed]; ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome., [RefSeq, PubMed]; Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan., [RefSeq, PubMed]; TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies., [RefSeq, PubMed]; This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 698, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MU35;H9KVB2", "ec_number_list": [ { "id": "2.7.7.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.40", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0047349 D-ribitol-5-phosphate cytidylyltransferase activity;GO:0070567 cytidylyltransferase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035269 protein O-linked glycosylation via mannose;GO:0008299 isoprenoid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "A4D126-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75113-1", "uniprot_id": [ { "id": "N4BP1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75113", "type": "external" } ], "mass": 100379.0, "length": 896, "protein_name": "NEDD4-binding protein 1", "gene_name": "N4BP1", "organism": "Human", "refseq_name": "NEDD4-binding protein 1", "refseq_ac": [ { "id": "NP_694574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694574", "type": "external" } ], "gene_names_uniprotkb": "N4BP1; KIAA0615", "gene_names_refseq": "N4BP1", "protein_names_uniprotkb": "NEDD4-binding protein 1; 3.1.-.-; N4BP1", "protein_names_refseq": "NEDD4-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9683); (R-HSA-9758274)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "11237011;15389287;17525332;18212344;18669648;19074885;19651622;19690332;20068231;20112406;20166139;20434986;21703539;23186163;23301498;23481700;24275569;24714562;25418920;25576301;26154972;26240016;26375851;26620909;26728094;26811146;26929215;26992070;27426725;27600516;27846572;27862975;27920218;28218747;28446606;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30059200;30315122;30379171;30429286;30620550;30779550;31133753;31319543;31492838;31826938;31844290;32157095;32265295;32350084;32357974;32502341;32574038;32897882;32938616;32971525;32983136;33298915;33392160;33592498;33654074;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34932366;35002536;35051231;35132862;35154160;35251023;35254053;35580925;36010968;36284347;37579928;39534244;40307207", "class_list": "", "function": "CircN4bp1 Facilitates Sepsis-Induced Acute Respiratory Distress Syndrome through Mediating Macrophage Polarization via the miR-138-5p/EZH2 Axis. Publication Status: Online-Only, [RefSeq, PubMed]; Integration of innate immune signalling by caspase-8 cleavage of N4BP1., [RefSeq, PubMed]; N4BP1 regulates keratinocytes development and plays protective role in burn- and adhesive-related skin injury via MMP9., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Potent suppressor of cytokine production that acts as a regulator of innate immune signaling and inflammation. Acts as a key negative regulator of select cytokine and chemokine responses elicited by TRIF-independent Toll-like receptors (TLRs), thereby limiting inflammatory cytokine responses to minor insults. In response to more threatening pathogens, cleaved by CASP8 downstream of TLR3 or TLR4, leading to its inactivation, thereby allowing production of inflammatory cytokines (By similarity). Acts as a restriction factor against some viruses, such as HIV-1: restricts HIV-1 replication by binding to HIV-1 mRNAs and mediating their degradation via its ribonuclease activity (PubMed:31133753). Also acts as an inhibitor of the E3 ubiquitin-protein ligase ITCH: acts by interacting with the second WW domain of ITCH, leading to compete with ITCH's substrates and impairing ubiquitination of substrates (By similarity)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A7MD49;Q2YDX1", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.4.22.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.61", "type": "external" } ], "go_molecular_function": "GO:0003729 mRNA binding;GO:0016787 hydrolase activity;GO:0004540 RNA nuclease activity;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0016605 PML body", "go_biological_process": "GO:0045087 innate immune response;GO:0045071 negative regulation of viral genome replication;GO:0031397 negative regulation of protein ubiquitination;GO:0034644 cellular response to UV;GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "O75113-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T2T1-1", "uniprot_id": [ { "id": "MPP7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T2T1", "type": "external" } ], "mass": 65524.0, "length": 576, "protein_name": "MAGUK p55 subfamily member 7", "gene_name": "MPP7", "organism": "Human", "refseq_name": "MAGUK p55 subfamily member 7", "refseq_ac": [ { "id": "NP_001305099", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305099", "type": "external" } ], "gene_names_uniprotkb": "MPP7", "gene_names_refseq": "MPP7", "protein_names_uniprotkb": "MAGUK p55 subfamily member 7", "protein_names_refseq": "MAGUK p55 subfamily member 7; membrane palmitoylated protein 7; membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)", "tax_id": 9606, "disease": "", "pathway": " (hsa:143098); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013406); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013423)", "pathway_count": 7, "publication_count": 312, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10652265;10699171;10699464;10847683;10873802;10958683;10967094;11007481;11058585;11085924;11145705;11149925;11185749;11237011;11373293;11396949;11431473;11432776;11584276;11672528;11689693;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11864571;11884391;11912491;11919634;11956649;11961559;11967128;12071859;12093360;12096337;12177196;12195014;12221096;12242347;12351724;12376551;12432077;12456725;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12877655;12923183;14512443;14514689;1464587;14675773;14718541;14719143;15023524;15033976;15064355;15107133;15133129;15147912;15169870;15302923;15304341;15339924;15342493;15485661;15507211;15542837;15546864;15579468;15601624;15611138;15710388;15728722;15814684;15850391;15858067;15897194;16002401;16081809;16112081;16116428;16184169;16243035;16243036;16339170;16473593;16492808;16507994;16519628;1660188;16636067;16678097;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17027967;17060455;17077126;17145773;17158234;17196961;17214551;17237226;17244649;17269730;17332497;17583407;17599059;17616219;17698854;17702745;17765681;17804252;17976533;18006505;18045877;18056264;18191593;18218625;18249095;18347018;18396277;18426980;18653540;18662984;18669648;18697831;18838382;19258391;19269969;19494238;19534724;19581409;19605563;19673492;19713215;19934221;20068231;20400958;20460433;20679435;20702775;20810653;21148482;21151158;21378159;21454492;21542010;21565175;21613211;21621533;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22734669;22970203;22971344;23029280;23209303;23255595;23288169;23434736;23481700;23572525;23707487;23718289;23757206;23870057;23940355;24086303;24259668;24297911;24335996;24352656;24355937;24623723;24659802;24715725;24859002;24933155;24960694;25024229;25211221;25428919;25576301;25678704;25704760;25721503;25795300;25862245;26016997;26129894;26154972;26299518;26481050;26529257;26628301;26887924;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;27862975;28114311;28196833;28356423;28832583;29089502;29351928;29358323;29382922;29493099;29557506;30379171;30429286;30779550;30853411;31389670;31844290;31871319;32157095;32203420;32302585;32938616;32983136;33592498;33968037;33981976;34087483;34211107;35051231;35580925;36215666;36241641;37194388;37938771;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9252344;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9705280;9792683;9822598;9822605;9843499;9857026;9988689", "class_list": "", "function": "A common variant SNP rs1937810 in the MPP7 gene contributes to the susceptibility of breast cancer in the Chinese Han population., [RefSeq, PubMed]; Acts as an important adapter that promotes epithelial cell polarity and tight junction formation via its interaction with DLG1. Involved in the assembly of protein complexes at sites of cell-cell contact., [UniProtKB, PubMed]; MPP7 is a PDZ protein that interacts with human papillomavirus-16 E6 and forms a tripartite complex with LIN7A or LIN7C and DLG1, regulating the stability and localization of DLG1 to cell junctions., [RefSeq, PubMed]; MPP7 targets to the lateral surface of epithelial cells via its L27N domain, through an interaction with Dlg1., [RefSeq, PubMed]; The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RCC9;B4DWL9;B5MDZ3;D3DRW3;Q5T2T0;Q8IY28", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019904 protein domain specific binding;GO:0045296 cadherin binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005912 adherens junction;GO:0005923 bicellular tight junction;GO:0005938 cell cortex", "go_biological_process": "GO:0031334 positive regulation of protein-containing complex assembly;GO:0070830 bicellular tight junction assembly;GO:0030010 establishment of cell polarity;GO:0071896 protein localization to adherens junction", "synthesized_glycan_count": 0, "hit_score": 31.5, "record_id": "Q5T2T1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41226-1", "uniprot_id": [ { "id": "UBA7_HUMAN", "url": "https://www.uniprot.org/uniprot/P41226", "type": "external" } ], "mass": 111694.0, "length": 1012, "protein_name": "Ubiquitin-like modifier-activating enzyme 7", "gene_name": "UBA7", "organism": "Human", "refseq_name": "ubiquitin-like modifier-activating enzyme 7", "refseq_ac": [ { "id": "NP_003326", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003326", "type": "external" } ], "gene_names_uniprotkb": "UBA7; UBE1L; UBE2", "gene_names_refseq": "D8; UBA1B; UBA7; UBE1L; UBE2; UBE7", "protein_names_uniprotkb": "Ubiquitin-like modifier-activating enzyme 7; 6.2.1.-; D8; Ubiquitin-activating enzyme 7; Ubiquitin-activating enzyme E1 homolog", "protein_names_refseq": "UBA1, ubiquitin-activating enzyme E1 homolog B; UBA7, ubiquitin-activating enzyme E1; ubiquitin-activating enzyme 7; ubiquitin-activating enzyme E1-related protein; ubiquitin-activating enzyme-2; ubiquitin-like modifier-activating enzyme 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:7318); (R-HSA-1169408); (R-HSA-168928); (R-HSA-5656169); (R-HSA-936440); (R-HSA-983168); (R-HSA-9909505); (R-HSA-9918485)", "pathway_count": 8, "publication_count": 198, "publication_id_list": "10801132;10856253;10984059;11006276;11062501;11095724;11112487;11157743;11337487;11350924;11788588;12444249;12525615;12582176;12646216;12665801;12682107;14734113;15098107;15131269;15199127;15208624;15224091;15224092;15485925;15507651;15571818;15702989;15838506;16009940;16112642;16122702;16125763;16127453;16139798;16153868;16254333;16352599;16394098;16407192;16428300;16595681;16699525;16715065;16775314;16815975;16849449;16872604;16914094;16954532;17043239;17289916;17376915;17392790;17600090;17991829;18057259;18160138;18200010;18266465;18287095;18305167;18307765;18583345;18591409;18662542;19017631;19028597;19073728;19125153;19153606;19270716;19352404;19452197;19484123;19489725;19531363;19851334;19874575;19881509;19893624;19940261;20133869;20219937;20304918;20308324;20385878;20403326;20434986;20628368;21143968;21628590;2261476;22693631;22700975;22859295;23000965;23084921;23143872;23481700;23593430;23658209;24074594;24275569;24449906;24755855;24768535;25418920;25505266;25576301;25645385;25892735;26056282;26101251;26154972;26212330;26375851;26468529;26811146;26992070;27545325;27564865;27832191;27846572;27862975;27920218;28035359;28218747;28228285;28397838;28514659;28832583;28834231;28855257;28904123;29056542;29242379;29393594;29437277;29493099;29557506;29610346;29632046;29742433;29743376;29769354;29786170;30169894;30224801;30315122;30429286;30524438;31217245;31428903;31434731;31455651;31720911;31844290;31974171;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33717175;33912179;33968037;34185709;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36284347;36581221;36793726;37722521;37938771;7559393;7734949;8327486;8658138;8751446;9380723;9525617;9668046;9931503", "class_list": "", "function": "E1-activating enzyme that catalyzes the covalent conjugation of the ubiquitin-like protein product of ISG15 to additional interferon stimulated proteins (ISGs) as well as other cellular proteins such as P53 in a process termed protein ISGylation (PubMed:27545325). Plays an essential role in antiviral immunity together with ISG15 by restricting the replication of many viruses including rabies virus, influenza virus, sindbis virus, rotavirus or human cytomegalovirus (PubMed:16254333, PubMed:19073728, PubMed:29056542, PubMed:29743376, PubMed:37722521). For example, ISG15 modification of influenza A protein NS1 disrupts the association of the NS1 with importin-alpha leading to NS1 nuclear import inhibition (PubMed:20133869). ISGylation of human cytomegalovirs protein UL26 regulates its stability and inhibits its activities to suppress NF-kappa-B signaling (PubMed:27564865)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TNF-alpha, similar to the response by IFN-beta, could directly induce expression of ISG15 and its conjugation machinery, UbE1L and UbcH8, in human lung carcinoma., [RefSeq, PubMed]; The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008]., [RefSeq]; Type I Interferon Regulates a Coordinated Gene Network to Enhance Cytotoxic T Cell-Mediated Tumor Killing., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BRB2", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "6.2.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.64", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004842 ubiquitin-protein transferase activity;GO:0019782 ISG15 activating enzyme activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045087 innate immune response;GO:0006974 DNA damage response;GO:0016567 protein ubiquitination;GO:0032020 ISG15-protein conjugation", "synthesized_glycan_count": 0, "hit_score": 19.9, "record_id": "P41226-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VH4-1", "uniprot_id": [ { "id": "LRRT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VH4", "type": "external" } ], "mass": 67217.0, "length": 590, "protein_name": "Leucine-rich repeat transmembrane neuronal protein 4", "gene_name": "LRRTM4", "organism": "Human", "refseq_name": "leucine-rich repeat transmembrane neuronal protein 4 isoform a precursor", "refseq_ac": [ { "id": "NP_001128217", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128217", "type": "external" } ], "gene_names_uniprotkb": "LRRTM4; PRO9907", "gene_names_refseq": "LRRTM4", "protein_names_uniprotkb": "Leucine-rich repeat transmembrane neuronal protein 4", "protein_names_refseq": "leucine-rich repeat transmembrane neuronal protein 4 isoform a precursor; leucine-rich repeat transmembrane neuronal protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:80059); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11604393;12676565;12975309;15540461;16242404;16624946;16846852;17897391;18812509;18829961;20064387;20064388;20519524;21282647;25378172;29557506;31844290;31854516;34357683;35052406;37217939;7695896;7736595;8576240;9069287;9808458;9927700", "class_list": "", "function": "LRRTM4 Terminal Exon Duplicated in Family with Tourette Syndrome, Autism and ADHD. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in the development and maintenance of the vertebrate nervous system. Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation (By similarity)., [UniProtKB]; Targeted sequencing of the LRRTM gene family in suicide attempters with bipolar disorder., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q4FZ98;Q6UXJ7", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0051965 positive regulation of synapse assembly", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q86VH4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXB1-1", "uniprot_id": [ { "id": "LGR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXB1", "type": "external" } ], "mass": 104475.0, "length": 951, "protein_name": "Leucine-rich repeat-containing G protein-coupled receptor 4", "gene_name": "LGR4", "organism": "Human", "refseq_name": "leucine-rich repeat-containing G-protein coupled receptor 4 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001333361", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333361", "type": "external" } ], "gene_names_uniprotkb": "LGR4; GPR48", "gene_names_refseq": "BNMD17; DPSL; GPR48; LGR4", "protein_names_uniprotkb": "Leucine-rich repeat-containing G protein-coupled receptor 4; G protein-coupled receptor 48", "protein_names_refseq": "G protein-coupled receptor 48; leucine-rich repeat-containing G-protein coupled receptor 4 isoform 2 precursor", "tax_id": 9606, "disease": "osteoporosis (Disease Ontology:DOID:11476); glaucoma (Disease Ontology:DOID:1686); delayed puberty, self-limited (MONDO:MONDO:0859205)", "pathway": " (hsa:55366); (R-HSA-4641263)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11401528;16109882;16357527;17178856;17400545;17804805;18452278;20495530;21693646;21727895;21909076;22575959;22815884;23444378;23644456;23756652;23847203;24190977;24275569;24715725;27090790;28467828;28904123;29242379;29393594;29557506;31844290;32157095;32350084;32488085;32493844;32938616;33298915;33392160;33592498;33912179;33936100;33968037;34357683;35051231;35154160;35251023;36215666;36241641;36538378;36791020;37074911;37437654;37473901;37986325", "class_list": "", "function": "GPR48 may play an important role in invasiveness and metastasis of carcinoma and might represent a potential prognostic marker or therapeutic target., [RefSeq, PubMed]; Identification of LGR4 as a prognostic biomarker in KRAS-mutant lung adenocarcinoma: Evidence from integrated bioinformatics analysis., [RefSeq, PubMed]; LGR4 promotes tumorigenesis by activating TGF-beta1/Smad signaling pathway in multiple myeloma., [RefSeq, PubMed]; LGR4: A New Receptor Member in Endocrine and Metabolic Diseases. Review article, [RefSeq, PubMed]; Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and is involved in the formation of various organs. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G protein-coupled receptors, does not activate heterotrimeric G proteins to transduce the signal. Its function as activator of the Wnt signaling pathway is required for the development of various organs, including liver, kidney, intestine, bone, reproductive tract and eye. May also act as a receptor for norrin (NDP), such results however require additional confirmation in vivo. Required during spermatogenesis to activate the Wnt signaling pathway in peritubular myoid cells. Required for the maintenance of intestinal stem cells and Paneth cell differentiation in postnatal intestinal crypts. Acts as a regulator of bone formation and remodeling. Involved in kidney development; required for maintaining the ureteric bud in an undifferentiated state. Involved in the development of the anterior segment of the eye. Required during erythropoiesis. Also acts as a negative regulator of innate immunity by inhibiting TLR2/TLR4 associated pattern-recognition and pro-inflammatory cytokine production. Plays an important role in regulating the circadian rhythms of plasma lipids, partially through regulating the rhythmic expression of MTTP (By similarity). Required for proper development of GnRH neurons (gonadotropin-releasing hormone expressing neurons) that control the release of reproductive hormones from the pituitary gland (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Rspo2-LGR4 exacerbates hepatocellular carcinoma progression via activation of Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 9737, "biomarker_type": "", "glycan_count": 5, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NCH3;G5E9B3;Q8N537;Q9NYD1", "ec_number_list": [], "go_molecular_function": "GO:0016500 protein-hormone receptor activity;GO:0004888 transmembrane signaling receptor activity;GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0045087 innate immune response;GO:0046849 bone remodeling;GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9BXB1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BT23-1", "uniprot_id": [ { "id": "LIMD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BT23", "type": "external" } ], "mass": 14070.0, "length": 127, "protein_name": "LIM domain-containing protein 2", "gene_name": "LIMD2", "organism": "Human", "refseq_name": "LIM domain-containing protein 2", "refseq_ac": [ { "id": "NP_085053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085053", "type": "external" } ], "gene_names_uniprotkb": "LIMD2; SB143", "gene_names_refseq": "LIMD2", "protein_names_uniprotkb": "LIM domain-containing protein 2", "protein_names_refseq": "LIM domain-containing protein 2; testicular tissue protein Li 106", "tax_id": 9606, "disease": "", "pathway": " (hsa:80774)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;23783831;24590809;24714562;24715725;25576301;25892735;26992070;27846572;27862975;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29493099;29557506;29560564;29632711;30221696;30315122;31217245;31844290;31848261;32157095;32357974;32897882;32983136;33592498;33633747;33717175;33912179;33936100;34724866;34932366;35154160;35580925;36284347;37936458;38665916", "class_list": "", "function": "Acts as an activator of the protein-kinase ILK, thereby regulating cell motility (PubMed:24590809)., [UniProtKB, PubMed]; LIM domain-containing 2 (LIMD2) promotes the progress of ovarian cancer via the focal adhesion signaling pathway., [RefSeq, PubMed]; LIMD2 is the Signature of Cell Aging-immune/Inflammation in Acute Myocardial Infarction., [RefSeq, PubMed]; Our data suggest that LIMD2 may play an important role in the metastatic process of papillary thyroid carcinoma, [RefSeq, PubMed]; The results of the present study revealed that LIMD2 promoted nonsmall cell lung cancer (NSCLC)progression and was regulated by miR34a., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DU16;Q96S91", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0051017 actin filament bundle assembly", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9BT23-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60663-1", "uniprot_id": [ { "id": "LMX1B_HUMAN", "url": "https://www.uniprot.org/uniprot/O60663", "type": "external" } ], "mass": 44917.0, "length": 402, "protein_name": "LIM homeobox transcription factor 1-beta", "gene_name": "LMX1B", "organism": "Human", "refseq_name": "LIM homeobox transcription factor 1-beta isoform 2", "refseq_ac": [ { "id": "NP_001167618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167618", "type": "external" } ], "gene_names_uniprotkb": "LMX1B", "gene_names_refseq": "FSGS10; LMX1.2; LMX1B; NPS1", "protein_names_uniprotkb": "LIM homeobox transcription factor 1-beta; LIM/homeobox protein 1.2; LIM/homeobox protein LMX1B; LMX-1.2", "protein_names_refseq": "LIM homeobox transcription factor 1-beta isoform 2; LIM/homeobox protein 1.2; LMX-1.2", "tax_id": 9606, "disease": "nail-patella syndrome (Disease Ontology:DOID:9467); nail-patella-like renal disease (MONDO:MONDO:0009724)", "pathway": " (hsa:4010)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10571942;11668639;23308148;23687361;24042019;26560070;28059119;32356190;32791958;37014324;37899549;39263770;9590287;9618165;9837817", "class_list": "", "function": "ATG8-dependent LMX1B-autophagy crosstalk shapes human midbrain dopaminergic neuronal resilience., [RefSeq, PubMed]; De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype., [RefSeq, PubMed]; Genetic polymorphisms of LMX1B and MLXIP are associated with hip osteoarthritis in the Chinese population., [RefSeq, PubMed]; This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]., [RefSeq]; Transcription factor involved in the regulation of podocyte-expressed genes (PubMed:24042019, PubMed:28059119). Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "F8W7W6;O75463;Q5JU95;Q6ISC9", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0046872 metal ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "O60663-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62906-1", "uniprot_id": [ { "id": "RL10A_HUMAN", "url": "https://www.uniprot.org/uniprot/P62906", "type": "external" } ], "mass": 24831.0, "length": 217, "protein_name": "Large ribosomal subunit protein uL1", "gene_name": "RPL10A", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL1", "refseq_ac": [ { "id": "NP_009035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009035", "type": "external" } ], "gene_names_uniprotkb": "RPL10A; NEDD6", "gene_names_refseq": "CSA19; Csa-19; L10A; NEDD6; RPL10A; uL1", "protein_names_uniprotkb": "Large ribosomal subunit protein uL1; 60S ribosomal protein L10a; CSA-19; NEDD-6; Neural precursor cell expressed developmentally down-regulated protein 6", "protein_names_refseq": "60S ribosomal protein L10a; NEDD-6; large ribosomal subunit protein uL1; neural precursor cell expressed developmentally down-regulated protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:4736); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 17, "publication_count": 306, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12962325;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15104674;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18160138;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19748539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21209280;21419344;22072790;22190735;22195017;22424782;22544926;22645359;22869377;22898188;22916032;23085078;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25114211;25132172;25242263;25418920;25469497;25525153;25576301;25578875;25645385;25802875;25810538;25892735;25969445;26154972;26237581;26375851;26728094;26768311;26811146;26992070;27397612;27452731;27526673;27543614;27600516;27726376;27846572;27862975;27920218;28063628;28065601;28132843;28218747;28228285;28510447;28514659;28649982;28685749;28832583;28834231;28860189;28904123;29242379;29314611;29331515;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632312;29632711;29786170;29789417;30192525;30244831;30293783;30315122;30410026;30429286;30484775;30524438;30779550;30784271;30804176;30833945;31011209;31154438;31217245;31222486;31611695;31844290;31848261;31937595;31998317;32099016;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32579943;32669547;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33406423;33537174;33592498;33633747;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35008409;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36302773;37217939;37676773;37938771;38383789;38665916;429297;592398;592399;641056;6568109;6901506;7609734;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L1P family of ribosomal proteins. It is located in the cytoplasm. The expression of this gene is downregulated in the thymus by cyclosporin-A (CsA), an immunosuppressive drug. Studies in mice have shown that the expression of the ribosomal protein L10a gene is downregulated in neural precursor cells during development. This gene previously was referred to as NEDD6 (neural precursor cell expressed, developmentally downregulated 6), but it has been renamed RPL10A (ribosomal protein 10a). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R801;P52859;P53025;Q5TZT6;Q8J013", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0045471 response to ethanol;GO:0006412 translation;GO:0006941 striated muscle contraction", "synthesized_glycan_count": 0, "hit_score": 30.9, "record_id": "P62906-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19532-1", "uniprot_id": [ { "id": "TFE3_HUMAN", "url": "https://www.uniprot.org/uniprot/P19532", "type": "external" } ], "mass": 61521.0, "length": 575, "protein_name": "Transcription factor E3", "gene_name": "TFE3", "organism": "Human", "refseq_name": "transcription factor E3 isoform 2", "refseq_ac": [ { "id": "NP_001269071", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269071", "type": "external" } ], "gene_names_uniprotkb": "TFE3; BHLHE33", "gene_names_refseq": "MRXSPF; RCCP2; RCCX1; TFE3; TFEA; bHLHe33", "protein_names_uniprotkb": "Transcription factor E3; Class E basic helix-loop-helix protein 33; bHLHe33", "protein_names_refseq": "class E basic helix-loop-helix protein 33; transcription factor E family, member A; transcription factor E3 isoform 2; transcription factor E3; transcription factor for IgH enhancer; transcription factor for immunoglobulin heavy-chain enhancer 3", "tax_id": 9606, "disease": "lysosomal storage disease (Disease Ontology:DOID:3211); renal cell carcinoma (Disease Ontology:DOID:4450); intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MONDO:MONDO:0859080)", "pathway": " (hsa:7030); (R-HSA-9856649)", "pathway_count": 2, "publication_count": 127, "publication_id_list": "10567402;10611221;10655586;10673502;11027551;11244503;11358836;11840323;11891324;11912130;11930005;14975237;15118077;15226305;15507434;16014379;16034366;16822840;1698554;17081983;1748288;17623675;18644867;19413330;19415658;19524539;19608861;19651622;20058876;20068231;20460180;21209915;21406692;21486943;21965087;22647378;22692423;23159739;23186163;23190890;23207919;2338243;24275569;24448649;25248477;25576301;25595898;26154972;26811146;27128622;27543614;27846572;27920218;28228285;28394346;28514659;28657654;28832583;28904123;29146937;29242379;29295999;29393594;29557506;29632046;30315122;30520728;30595499;30733432;30804224;30833945;30849994;31154438;31672913;31833172;31844290;31848261;32157095;32161166;32265295;32350084;32387766;32409512;32488085;32502341;32636443;32662822;32938616;32983136;33141586;33298915;33592498;33744299;33936100;33968037;34140478;34171305;34561969;34725712;34932366;35051231;35318648;35580925;36010968;36241641;36608670;37079666;37770430;38599381;39054068;39085357;39103264;40307207;40596516;5338216;7958932;8336698;8872474;8986805;9199364;9353119;9393982;9440696;9560246;9676189;9760192;9973413", "class_list": "", "function": "Comprehensive molecular characterization of TFE3-rearranged renal cell carcinoma., [RefSeq, PubMed]; TFEB/3 Govern Repair Schwann Cell Generation and Function Following Peripheral Nerve Injury. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]; Transcription factor that acts as a master regulator of lysosomal biogenesis and immune response (PubMed:2338243, PubMed:24448649, PubMed:29146937, PubMed:30733432, PubMed:31672913, PubMed:37079666). Specifically recognizes and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF (PubMed:24448649). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, TFE3 phosphorylation by MTOR promotes its inactivation (PubMed:24448649, PubMed:31672913, PubMed:36608670). Upon starvation or lysosomal stress, inhibition of MTOR induces TFE3 dephosphorylation, resulting in transcription factor activity (PubMed:24448649, PubMed:31672913, PubMed:36608670). Specifically recognizes and binds the CLEAR-box sequence (5'-GTCACGTGAC-3') present in the regulatory region of many lysosomal genes, leading to activate their expression, thereby playing a central role in expression of lysosomal genes (PubMed:24448649). Maintains the pluripotent state of embryonic stem cells by promoting the expression of genes such as ESRRB; mTOR-dependent TFE3 cytosolic retention and inactivation promotes exit from pluripotency (By similarity). Required to maintain the naive pluripotent state of hematopoietic stem cell; mTOR-dependent cytoplasmic retention of TFE3 promotes the exit of hematopoietic stem cell from pluripotency (PubMed:30733432). TFE3 activity is also involved in the inhibition of neuronal progenitor differentiation (By similarity). Acts as a positive regulator of browning of adipose tissue by promoting expression of target genes; mTOR-dependent phosphorylation promotes cytoplasmic retention of TFE3 and inhibits browning of adipose tissue (By similarity). In association with TFEB, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity (By similarity). Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer (PubMed:2338243). It also binds very well to a USF/MLTF site (PubMed:2338243). Promotes TGF-beta-induced transcription of COL1A2; via its interaction with TSC22D1 at E-boxes in the gene proximal promoter (By similarity). May regulate lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1 (PubMed:29146937)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; [TFE3-rearranged perivascular epithelioid cell tumors: a clinicopathological analysis of eight cases]., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8MZL6;Q5JU74;Q92757;Q92758;Q99964", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0046983 protein dimerization activity;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045785 positive regulation of cell adhesion;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "P19532-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPB8-1", "uniprot_id": [ { "id": "GPCP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPB8", "type": "external" } ], "mass": 76035.0, "length": 672, "protein_name": "Glycerophosphocholine phosphodiesterase GPCPD1", "gene_name": "GPCPD1", "organism": "Human", "refseq_name": "glycerophosphocholine phosphodiesterase GPCPD1", "refseq_ac": [ { "id": "NP_062539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_062539", "type": "external" } ], "gene_names_uniprotkb": "GPCPD1; GDE5; KIAA1434", "gene_names_refseq": "EDI3; GDE5; GDPD6; GPCPD1; PREI4", "protein_names_uniprotkb": "Glycerophosphocholine phosphodiesterase GPCPD1; 3.1.4.2; Glycerophosphodiester phosphodiesterase 5", "protein_names_refseq": "endometrial differential 3; glycerophosphocholine phosphodiesterase GDE1 homolog; glycerophosphocholine phosphodiesterase GPCPD1; preimplantation protein 4; putative glycerophosphocholine phosphodiesterase GPCPD1; putative glycerophosphodiester phosphodiesterase 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:56261); (R-HSA-1483115); (R-HSA-1483152)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "10092508;11237011;11790796;15944408;18510355;19019078;19501189;20705608;22343285;22570503;23186163;23481700;24714562;25482527;25576301;25880248;25892735;26811146;27231714;27862975;27920218;28218747;28228285;28446606;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;30315122;30429286;31217245;31844290;32157095;32502341;32897882;32938616;32983136;33298915;33630763;33912179;33936100;34211107;34932366;35051231;35580925;36010968;36284347;36670508;36803235;37938771;38238601;38816770;8083230;9525960", "class_list": "glycogene", "function": "Common genetic variants in GPCPD1 are associated with scaling of visual cortical surface area in humans, [RefSeq, PubMed]; EDI3 knockdown in ER-HER2+ breast cancer cells reduces tumor burden and improves survival in two mouse models of experimental metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; EDI3 links choline metabolism to integrin expression, cell adhesion and spreading, [RefSeq, PubMed]; Gpcpd1-GPC metabolic pathway is dysfunctional in aging and its deficiency severely perturbs glucose metabolism., [RefSeq, PubMed]; Hypoxia-induced GPCPD1 depalmitoylation triggers mitophagy via regulating PRKN-mediated ubiquitination of VDAC1., [RefSeq, PubMed]; Inhibiting the glycerophosphodiesterase EDI3 in ER-HER2+ breast cancer cells resistant to HER2-targeted therapy reduces viability and tumour growth. Publication Status: Online-Only, [RefSeq, PubMed]; Shows strong preference for glycerophosphocholine. Displays weak activity toward glycerophosphoethanolamine and no detectable activity toward glycerophosphoglycerol, glycerophosphoserine, or glycerophosphoinosito. May be involved in the negative regulation of skeletal muscle differentiation, independently of its glycerophosphocholine phosphodiesterase activity., [UniProtKB, UniProtKB]; We have identified EDI3, a key enzyme controlling GPC and choline metabolism; Because inhibition of it corrects the GPC/PC ratio and decreases the migration capacity of tumor cells, it represents a possible target for therapeutic intervention., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 619, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DW06;Q9BQL8;Q9NUX0", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.2", "type": "external" } ], "go_molecular_function": "GO:2001070 starch binding;GO:0047389 glycerophosphocholine phosphodiesterase activity;GO:0008081 phosphoric diester hydrolase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0046475 glycerophospholipid catabolic process;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9NPB8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TCX8-1", "uniprot_id": [ { "id": "M3K21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TCX8", "type": "external" } ], "mass": 113957.0, "length": 1036, "protein_name": "Mitogen-activated protein kinase kinase kinase 21", "gene_name": "MAP3K21", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 21", "refseq_ac": [ { "id": "NP_115811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115811", "type": "external" } ], "gene_names_uniprotkb": "MAP3K21; KIAA1804; MLK4", "gene_names_refseq": "MAP3K21; MLK4; dJ862P8.3", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 21; 2.7.11.25; Mitogen-activated protein kinase kinase kinase MLK4; Mixed lineage kinase 4", "protein_names_refseq": "mitogen-activated protein kinase kinase kinase 21; mitogen-activated protein kinase kinase kinase MLK4; mixed lineage kinase 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:84451)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "17344846;18669648;18691976;19369195;19413330;19664994;20068231;21602844;23186163;23319808;24715725;26992070;28904123;29557506;30315122;30429286;30833945;32157095;32161166;32897882;33912179;33936100;34211107;35051231;37217939;37594950", "class_list": "", "function": "In establishing the role of MLK4 in intracellular signaling, we show it directly phosphorylates MEK1 (MAP2K1) and that MEK/ERK (MAPK1) signaling is impaired in MLK4 knockout cells, [RefSeq, PubMed]; MLK4 as an immune marker and its correlation with immune infiltration in Cervical squamous cell carcinoma and endocervical adenocarcinoma(CESC). Publication Status: Online-Only, [RefSeq, PubMed]; MLK4 is a negative regulator of TLR4 signaling., [RefSeq, PubMed]; Negative regulator of TLR4 signaling. Does not activate JNK1/MAPK8 pathway, p38/MAPK14, nor ERK2/MAPK1 pathways., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A1W2PKR9;B2RN34;Q5TCX7;Q5TCX9;Q8WWN1;Q8WWN2;Q96JM1;X6R610", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0004706 JUN kinase kinase kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q5TCX8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQ67-1", "uniprot_id": [ { "id": "GRWD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQ67", "type": "external" } ], "mass": 49419.0, "length": 446, "protein_name": "Glutamate-rich WD repeat-containing protein 1", "gene_name": "GRWD1", "organism": "Human", "refseq_name": "glutamate-rich WD repeat-containing protein 1", "refseq_ac": [ { "id": "NP_113673", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113673", "type": "external" } ], "gene_names_uniprotkb": "GRWD1; GRWD; KIAA1942; WDR28", "gene_names_refseq": "CDW4; DIAR14; GRWD1; GRWD; RRB1; WDR28", "protein_names_uniprotkb": "Glutamate-rich WD repeat-containing protein 1", "protein_names_refseq": "CUL4- and DDB1-associated WDR protein 4; WD repeat domain 28; glutamate rich WD repeat protein GRWD; glutamate-rich WD repeat-containing protein 1; regulator of ribosome biogenesis 1 homolog", "tax_id": 9606, "disease": "congenital diarrhea (Disease Ontology:DOID:0060774); diarrhea 14, congenital (MONDO:MONDO:0976266)", "pathway": " (hsa:83743)", "pathway_count": 1, "publication_count": 88, "publication_id_list": "11237011;12429849;14990995;15885502;17041588;17081983;18220336;18452278;18669648;19413330;20068231;21406692;23186163;23301498;23349634;23481700;24714562;24715725;25418920;25576301;25990725;26154972;26375851;26992070;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31545368;31844290;31848261;31891681;31998317;32157095;32161166;32350084;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34171305;34211107;34616846;34932366;34933446;35051231;35580925;36241641;36284347;37938771;40174224;40914422", "class_list": "", "function": "Comprehensive Analysis of Glutamate-Rich WD Repeat-Containing Protein 1 and Its Potential Clinical Significance for Pancancer. Publication Status: Online-Only, [RefSeq, PubMed]; Findings suggest a novel oncogenic function of GRWD1 as a transcriptional regulator of p53 and that GRWD1 might be an attractive therapeutic target and prognostic marker in cancer therapy, [RefSeq, PubMed]; GRWD1 promotes cell proliferation and migration in non-small cell lung cancer by activating the Notch pathway., [RefSeq, PubMed]; GRWD1-WDR5-MLL2 Epigenetic Complex Mediates H3K4me3 Mark and Is Essential for Kaposi's Sarcoma-Associated Herpesvirus-Induced Cellular Transformation., [RefSeq, PubMed]; Histone binding protein that regulates chromatin dynamics and loading of minichromosome maintenance (MCM) complex at replication origins, possibly by promoting chromatin openness (PubMed:25990725). Plays a role in ribosomal biogenesis (PubMed:15885502)., [UniProtKB, PubMed, PubMed]; This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0MNN5;Q8TF59", "ec_number_list": [], "go_molecular_function": "GO:0003688 DNA replication origin binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005694 chromosome;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006260 DNA replication;GO:0042254 ribosome biogenesis;GO:0006334 nucleosome assembly;GO:0006337 nucleosome disassembly", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9BQ67-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0M6-1", "uniprot_id": [ { "id": "H2AW_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0M6", "type": "external" } ], "mass": 40058.0, "length": 372, "protein_name": "Core histone macro-H2A.2", "gene_name": "MACROH2A2", "organism": "Human", "refseq_name": "core histone macro-H2A.2", "refseq_ac": [ { "id": "NP_061119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061119", "type": "external" } ], "gene_names_uniprotkb": "MACROH2A2; H2AFY2", "gene_names_refseq": "H2AFY2; MACROH2A2", "protein_names_uniprotkb": "Core histone macro-H2A.2; Histone macroH2A2; mH2A2", "protein_names_refseq": "H2A histone family member Y2; core histone macro-H2A.2; core histone macroH2A2.2; mH2A2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55506)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;11262398;11331621;15621527;19413330;25645385;25755297;27920218;29242379;29508533;29557506;30379171;30429286;31154438;31844290;31848261;31998317;32387766;32938616;33141586;33298915;33936100;33968037;34019948;34223906;35051231;35072799;35561310;35580925;38251858", "class_list": "", "function": "Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0., [RefSeq, PubMed]; Breast cancer malignancy is governed by regulation of the macroH2A2/TM4SF1 axis, the AKT/NF-kappaB pathway, and elevated MMP13 expression., [RefSeq, PubMed]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and may participate in stable X chromosome inactivation. [provided by RefSeq, Oct 2015]., [RefSeq]; LSH catalyzes ATP-driven exchange of histone variants macroH2A1 and macroH2A2., [RefSeq, PubMed]; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in stable X chromosome inactivation., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5SQT2", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000976 transcription cis-regulatory region binding;GO:0031490 chromatin DNA binding;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0000785 chromatin;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007420 brain development;GO:0006334 nucleosome assembly;GO:0045814 negative regulation of gene expression, epigenetic;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9P0M6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6U8-1", "uniprot_id": [ { "id": "GP161_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6U8", "type": "external" } ], "mass": 58559.0, "length": 529, "protein_name": "G protein-coupled receptor 161", "gene_name": "GPR161", "organism": "Human", "refseq_name": "G-protein coupled receptor 161 isoform 1", "refseq_ac": [ { "id": "NP_001254538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254538", "type": "external" } ], "gene_names_uniprotkb": "GPR161", "gene_names_refseq": "GPR161; RE2", "protein_names_uniprotkb": "G protein-coupled receptor 161; G protein-coupled receptor RE2", "protein_names_refseq": "G-protein coupled receptor 161 isoform 1; G-protein coupled receptor RE2", "tax_id": 9606, "disease": "medulloblastoma (Disease Ontology:DOID:0050902)", "pathway": " (hsa:23432); (R-HSA-5610787); (R-HSA-5632684)", "pathway_count": 3, "publication_count": 128, "publication_id_list": "10.1101/2023.09.13.557529;10433824;10564661;10966113;11027307;11237011;11375483;11959142;11960000;12050670;12068298;12123571;12138125;12192414;12426310;12435627;14528312;14603322;14611647;15087129;15115751;15198976;15300262;15930098;16061793;16136078;16155214;16229832;16254602;16311594;16339192;16396903;16421275;16459297;16459298;16493421;16611981;16651542;16707575;16740475;16980583;17027958;17115028;17200122;17442700;17553904;17641202;17762891;17960137;18327258;18455992;18497258;18827223;18832070;19000668;19196978;19223390;19286674;19305393;19365551;19368795;19371734;19533801;19549984;19592253;19622347;19666503;19684112;19767740;19776033;19818708;19852954;19877275;19878745;19906846;19948480;19955409;19996169;20014402;20016067;20067783;20154143;20207148;20360384;20395968;20412786;20460306;20487519;20512148;20643644;20818436;20844016;20889716;20956384;2105456;21209331;21695114;21801010;21878643;22007132;22231273;22391300;22391301;22982193;23209152;23332756;23719536;23725801;23955340;24072710;24302888;24339784;24582806;24845016;24854174;24863049;24917297;24925320;24952464;26992070;29393594;30256984;31609649;38326651;40384633;9601642;9874371;9932290", "class_list": "", "function": "Authors describe a novel brain tumor predisposition syndrome that is caused by germline GPR161 mutations and characterized by MBSHH in infants., [RefSeq, PubMed]; False positive non-synonymous polymorphisms of G-protein coupled receptor genes., [RefSeq, PubMed]; G protein-coupled receptor that acts as a key inhibitor of the smoothened signaling pathway in primary cilia (PubMed:38326651). Inhibits the smoothened signaling pathway in absence of hedgehog (DHH, IHH or SHH) by promoting formation of the transcription repressor form of GLI2 and GLI3 transcription factors (PubMed:38326651). GPR161 activation triggers signaling via guanine nucleotide-binding protein G(s)/GNAS, mediating activation of adenylate cyclase activity and production of cAMP (PubMed:38326651). Increased cAMP levels activate PKA, promoting PKA-dependent processing of GLI2 and GLI3 transcription factors, leading to formation of transcription repressor GLI2R and GLI3R, which repress expression of target genes (PubMed:38326651). GPR161 also activates PKA by acting as a PKA-anchoring protein, which directly associates with type I PKA regulatory subunits (PRKAR1A and/or PRKAR1B), recruiting PKA followed by PKA-dependent processing of GLI2 and GLI3 transcription factors (PubMed:38326651). In presence of hedgehog, GPR161 is removed from primary cilia by smoothened (SMO), preventing its activity and allowing activation of the smoothened signaling (By similarity). In contrast to the majority of G protein-coupled receptors, it is not activated by a ligand and it either acts as a constitutively active receptor or as a mechanosensitive receptor (PubMed:38326651). Involved in regulation of the smoothened signaling pathway during early neural tube development, forelimb formation, skeletal development, embryonic cerebellar development and forebrain development (By similarity). Involved in the saltatory migration of neurons during brain development by acting as a mechanosensitive receptor that senses mechanical forces generated by fluid shear stress (By similarity)., [UniProtKB, PubMed, UniProtKB]; Key negative regulator of Shh signaling, which promotes the processing of GLI3 into GLI3R during neural tube development. Recruited by TULP3 and the IFT-A complex to primary cilia and acts as a regulator of the PKA-dependent basal repression machinery in Shh signaling by increasing cAMP levels, leading to promote the PKA-dependent processing of GLI3 into GLI3R and repress the Shh signaling. In presence of SHH, it is removed from primary cilia and is internalized into recycling endosomes, preventing its activity and allowing activation of the Shh signaling. Its ligand is unknown., [UniProtKB, UniProtKB]; Rare variants of GPR161 from Spina bifida infants and determination of their functional relevance in the Shh and Wnt signaling pathways, [RefSeq, PubMed]; The protein encoded by this gene is an orphan G protein-coupled receptor whose ligand is unknown. This gene is overexpressed in triple-negative breast cancer, and disruption of this gene slows the proliferation of basal breast cancer cells. Therefore, this gene is a potential drug target for triple-negative breast cancer. [provided by RefSeq, Mar 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KV34;B7Z5D7;B7Z5E8;B7Z5Z6;F5GXD6;F5H6J7;O75963;Q5TGK0;Q5TGK1;Q5TGK2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005929 cilium;GO:0055037 recycling endosome;GO:0030666 endocytic vesicle membrane;GO:0060170 ciliary membrane", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:1901621 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q8N6U8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8ND71-1", "uniprot_id": [ { "id": "GIMA8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8ND71", "type": "external" } ], "mass": 74890.0, "length": 665, "protein_name": "GTPase IMAP family member 8", "gene_name": "GIMAP8", "organism": "Human", "refseq_name": "GTPase IMAP family member 8", "refseq_ac": [ { "id": "NP_783161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_783161", "type": "external" } ], "gene_names_uniprotkb": "GIMAP8; IAN9; IANT", "gene_names_refseq": "GIMAP8; IAN-9; IAN6; IAN9; IANT", "protein_names_uniprotkb": "GTPase IMAP family member 8; IAN-9; Immune-associated nucleotide-binding protein 9; Protein IanT", "protein_names_refseq": "GTPase IMAP family member 8; human immune associated nucleotide 6; immune-associated nucleotide-binding protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:155038)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "15474311;16103028;23454188;26992070;27862975;27920218;28514659;28832583;28904123;29242379;29493099;29557506;29632046;29786170;30429286;31154438;31217245;31844290;31848261;32157095;32265295;32357974;32502341;32938616;32983136;33298915;34561969;34932366;35051231;35580925;36284347;37217939;37938771", "class_list": "", "function": "Exerts an anti-apoptotic effect in the immune system and is involved in responses to infections., [UniProtKB, UniProtKB]; This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A090N8H2", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q8ND71-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TD20-1", "uniprot_id": [ { "id": "GTR12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TD20", "type": "external" } ], "mass": 66966.0, "length": 617, "protein_name": "Solute carrier family 2, facilitated glucose transporter member 12", "gene_name": "SLC2A12", "organism": "Human", "refseq_name": "solute carrier family 2, facilitated glucose transporter member 12", "refseq_ac": [ { "id": "NP_660159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660159", "type": "external" } ], "gene_names_uniprotkb": "SLC2A12; GLUT12", "gene_names_refseq": "GLUT12; GLUT8; SLC2A12", "protein_names_uniprotkb": "Solute carrier family 2, facilitated glucose transporter member 12; GLUT-12; Glucose transporter type 12", "protein_names_refseq": "GLUT-12; glucose transporter type 12; solute carrier family 2 (facilitated glucose transporter), member 12; solute carrier family 2, facilitated glucose transporter member 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:154091); (R-HSA-189200)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10.1038/emboj.2013.79;10821868;10860667;10970791;10987651;11133510;11245466;11247674;11425315;11583593;11681785;11741323;11780755;11832379;11994746;12504846;12583599;12590146;12885248;12890477;12914765;1415574;14614622;14739288;14997204;15033637;15607332;15902306;16154905;16550171;17050778;1756912;17635959;18063724;18327257;1918382;20616166;21107422;21940664;22212718;22521588;23584533;24715725;25576301;25892735;2656669;26650681;29242379;29557506;29769354;30410026;30429286;31154438;31222486;31848261;32157095;32938616;32946964;33077497;33592498;33968037;34087483;34791627;35051231;35580925;36594084;37940066;8457197;9354798;9751501", "class_list": "glycogene", "function": "Alternative Splicing and Cleavage of GLUT8. Publication Status: Online-Only, [RefSeq, PubMed]; Embedded in microvillous (maternal-facing) and basal (fetal-facing) membranes of syncytiotrophoblast, main placental barrier layer. (review) Review article, [RefSeq, PubMed]; Epithelial mesenchymal transition regulator TWIST1 transcription factor stimulates glucose uptake through upregulation of GLUT1, GLUT3, and GLUT12 in vitro., [RefSeq, PubMed]; Expression in adipose tissue, [RefSeq, PubMed]; Glucose transport properties and hexose affinities of GLUT12., [RefSeq, PubMed]; Hypoxia promotes the growth and metastasis of ovarian cancer cells by suppressing ferroptosis via upregulating SLC2A12., [RefSeq, PubMed]; Inhibition of androgen receptor enhanced the anticancer effects of everolimus through targeting glucose transporter 12. Publication Status: Online-Only, [RefSeq, PubMed]; Insulin-independent facilitative glucose transporter., [UniProtKB, UniProtKB]; Let-7a-5p inhibits triple-negative breast tumor growth and metastasis through GLUT12-mediated warburg effect., [RefSeq, PubMed]; SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 701, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B3KV17;Q7Z6U3;Q96MR8", "ec_number_list": [], "go_molecular_function": "GO:0055056 D-glucose transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030054 cell junction;GO:0048471 perinuclear region of cytoplasm;GO:0012505 endomembrane system", "go_biological_process": "GO:0072359 circulatory system development;GO:1904659 D-glucose transmembrane transport;GO:0008645 hexose transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q8TD20-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDU6-1", "uniprot_id": [ { "id": "GPBAR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDU6", "type": "external" } ], "mass": 35248.0, "length": 330, "protein_name": "G protein-coupled bile acid receptor 1", "gene_name": "GPBAR1", "organism": "Human", "refseq_name": "G-protein coupled bile acid receptor 1", "refseq_ac": [ { "id": "NP_001070659", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070659", "type": "external" } ], "gene_names_uniprotkb": "GPBAR1; TGR5", "gene_names_refseq": "BG37; GPBAR1; GPCR19; GPR131; M-BAR; TGR5", "protein_names_uniprotkb": "G protein-coupled bile acid receptor 1; BG37; G protein-coupled receptor GPCR19; M-BAR; Membrane-type receptor for bile acids; hBG37; hGPCR19", "protein_names_refseq": "G-protein coupled bile acid receptor 1; G-protein coupled bile acid receptor BG37; G-protein coupled receptor GPCR19; membrane bile acid receptor; membrane-type receptor for bile acids", "tax_id": 9606, "disease": "polycystic kidney disease (Disease Ontology:DOID:0080322); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:151306); (R-HSA-373076); (R-HSA-418555)", "pathway_count": 3, "publication_count": 90, "publication_id_list": "11007482;12036966;12044878;12058044;12106601;12180353;12419312;12522134;12524422;12860470;12955148;13549488;14617636;14671004;15141213;1517224;15280385;15326175;15765929;15769620;15929991;15951850;16313925;16540462;1656963;16687412;16754668;16844083;16923326;17139494;17168849;17339491;17462861;17876302;18044684;18577758;18588883;19105585;19876791;19929708;20381629;21036126;2163110;21796212;2263478;2417744;24687066;2491850;2553411;2553705;26417854;26541439;2871555;29443750;29602314;30524438;30833991;31154438;3127824;31279028;31399091;31844290;31983287;32226383;32387766;32497535;32540603;32618402;32698187;32715661;32747649;33049737;34509645;35858343;38806072;38932276;38941459;39082696;6085243;7498464;7568007;7689702;7775459;7946354;8340388;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "Changes in the Bile Acid Pool and Timing of Female Puberty: Potential Novel Role of Hypothalamic TGR5., [RefSeq, PubMed]; Expression of BG37 was detected in various specific tissues, suggesting its physiological role., [RefSeq, PubMed]; G protein-coupled receptor for bile acid (PubMed:12419312, PubMed:12524422, PubMed:32698187, PubMed:32747649, PubMed:35858343). Bile acid-binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase (PubMed:12419312, PubMed:12524422, PubMed:32698187, PubMed:32747649, PubMed:35858343). GPBAR1 is coupled to G(s) G proteins and mediates activation of adenylate cyclase activity (PubMed:12419312, PubMed:12524422, PubMed:32698187, PubMed:32747649, PubMed:35858343). Activated by bile acids, such as lithocholate, deoxycholate, chenodeoxycholate and cholate, in descending order (PubMed:12524422, PubMed:32698187). Apart from their role in lipid dietary absorption and cholesterol catabolism, bile acids act as an important signaling molecule, involved in processes, such as energy expenditure or tissue inflammation (PubMed:26541439). GPBAR1-mediated signaling promotes energy expenditure and adiposity reduction in brown adipose tissue by activating adenylate cyclase, leading to DIO2 activation (By similarity). Involved in bile acid promoted GLP-1 secretion (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Gpbar-1/cAMP/PKA signaling mitigates macrophage-mediated acute cholestatic liver injury via antagonizing NLRP3-ASC inflammasome., [RefSeq, PubMed]; Modulatory Roles of AHR, FFAR2, FXR, and TGR5 Gene Expression in Metabolic-Associated Fatty Liver Disease and COVID-19 Outcomes. Publication Status: Online-Only, [RefSeq, PubMed]; TGR5 deficiency in excitatory neurons ameliorates Alzheimer's pathology by regulating APP processing., [RefSeq, PubMed]; TGR5 is implicated in the suppression of macrophage functions by bile acids, [RefSeq, PubMed]; This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KV35", "ec_number_list": [], "go_molecular_function": "GO:0038182 G protein-coupled bile acid receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0097009 energy homeostasis;GO:1904056 positive regulation of cholangiocyte proliferation;GO:2000810 regulation of bicellular tight junction assembly;GO:0038184 adenylate cyclase-activating G protein-coupled bile acid receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q8TDU6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99679-1", "uniprot_id": [ { "id": "GPR21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99679", "type": "external" } ], "mass": 39515.0, "length": 349, "protein_name": "Probable G protein-coupled receptor 21", "gene_name": "GPR21", "organism": "Human", "refseq_name": "probable G-protein coupled receptor 21", "refseq_ac": [ { "id": "NP_005285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005285", "type": "external" } ], "gene_names_uniprotkb": "GPR21", "gene_names_refseq": "GPR21", "protein_names_uniprotkb": "Probable G protein-coupled receptor 21", "protein_names_refseq": "probable G-protein coupled receptor 21", "tax_id": 9606, "disease": "renal fibrosis (Disease Ontology:DOID:0050855); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:2844)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "27243589;32161166;34782333;35537492;36639690;9073069", "class_list": "", "function": "Cryo-EM structures of orphan GPR21 signaling complexes. Publication Status: Online-Only, [RefSeq, PubMed]; Deletion of GPR21 improves glucose homeostasis and inhibits the CCL2-CCR2 axis by divergent mechanisms., [RefSeq, PubMed]; G protein-coupled receptor 21 in macrophages: An in vitro study., [RefSeq, PubMed]; GPR21 is up-regulated in type 2 diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Orphan receptor., [UniProtKB]; This gene encodes a member of the G-protein-coupled receptor 1 family. G-protein coupled receptors are membrane proteins which activate signaling cascades as a response to extracellular stress. The encoded protein activates a Gq signal transduction pathway which mobilizes calcium. [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R8W9;Q6NXU2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q99679-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BX51-1", "uniprot_id": [ { "id": "GGTL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BX51", "type": "external" } ], "mass": 24274.0, "length": 225, "protein_name": "Glutathione hydrolase light chain 1", "gene_name": "GGTLC1", "organism": "Human", "refseq_name": "glutathione hydrolase light chain 1", "refseq_ac": [ { "id": "NP_842563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_842563", "type": "external" } ], "gene_names_uniprotkb": "GGTLC1; GGTLA4", "gene_names_refseq": "GGTL6; GGTLA3; GGTLA4; GGTLC1; dJ831C21.1; dJ831C21.2", "protein_names_uniprotkb": "Glutathione hydrolase light chain 1; Gamma-glutamyltransferase light chain 1; Gamma-glutamyltransferase-like activity 4; Gamma-glutamyltransferase-like protein 6", "protein_names_refseq": "gamma-glutamyl transpeptidase; gamma-glutamyltransferase-like activity 3; gamma-glutamyltransferase-like activity 4; gamma-glutamyltransferase-like protein 6; glutathione hydrolase light chain 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:92086)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "18357469;24190977;25880248;29557506;29741879;30315122;31092671;32161166;35051231;7689219", "class_list": "", "function": "This gene encodes a member of the gamma-glutamyl transpeptidase (GGT) family, which are important in the metabolism of glutathione. The most ubiquitously expressed human GGT gene, GGT1, encodes a single transmembrane polypeptide that is post-translationally processed to form a heavy and a light chain. In contrast, the product of this gene only contains homology to the light chain region, and lacks a transmembrane domain. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 8851, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DW43;Q08246", "ec_number_list": [], "go_molecular_function": "GO:0036374 glutathione hydrolase activity", "go_cellular_component": "", "go_biological_process": "GO:0006751 glutathione catabolic process;GO:1901750 leukotriene D4 biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9BX51-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZJ6-1", "uniprot_id": [ { "id": "GPR63_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZJ6", "type": "external" } ], "mass": 47578.0, "length": 419, "protein_name": "Probable G protein-coupled receptor 63", "gene_name": "GPR63", "organism": "Human", "refseq_name": "probable G-protein coupled receptor 63", "refseq_ac": [ { "id": "NP_001137429", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137429", "type": "external" } ], "gene_names_uniprotkb": "GPR63; PSP24B", "gene_names_refseq": "GPR63; PSP24(beta); PSP24B", "protein_names_uniprotkb": "Probable G protein-coupled receptor 63; PSP24-2; PSP24-beta", "protein_names_refseq": "PSP24-2; PSP24-beta; brain expressed G-protein-coupled receptor PSP24 beta; probable G-protein coupled receptor 63", "tax_id": 9606, "disease": "", "pathway": " (hsa:81491)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11027574;11165367;28218747;29242379;29557506;29769354;30410026;31611695;31844290;35051231;36371997", "class_list": "", "function": "Endothelial cell-derived S1P promotes migration and stemness by binding with GPR63 in colorectal cancer., [RefSeq, PubMed]; Orphan receptor. May play a role in brain function., [UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q9UJH3", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9BZJ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4S2-1", "uniprot_id": [ { "id": "GSX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4S2", "type": "external" } ], "mass": 27883.0, "length": 264, "protein_name": "GS homeobox 1", "gene_name": "GSX1", "organism": "Human", "refseq_name": "GS homeobox 1", "refseq_ac": [ { "id": "NP_663632", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_663632", "type": "external" } ], "gene_names_uniprotkb": "GSX1; GSH1", "gene_names_refseq": "GSH1; GSX1; Gsh-1", "protein_names_uniprotkb": "GS homeobox 1; Homeobox protein GSH-1", "protein_names_refseq": "GS homeo box protein 1; GS homeobox 1; genomic screened homeo box 1; homeobox protein Gsh-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:219409)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11731616;19460469;24714562;28218747;29351928;29437277;33633747;35051231;7518789", "class_list": "", "function": "Probable transcription factor that binds to the DNA sequence 5'-GC[TA][AC]ATTA[GA]-3'. Activates the transcription of the GHRH gene. Plays an important role in pituitary development., [UniProtKB]; The study ruled out microdeletions on the critical region as a common cause of Moebius syndrome and excluded GSH1 gene, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9UD62", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007417 central nervous system development;GO:0007420 brain development;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9H4S2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAV7-1", "uniprot_id": [ { "id": "GRPE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAV7", "type": "external" } ], "mass": 24279.0, "length": 217, "protein_name": "GrpE protein homolog 1, mitochondrial", "gene_name": "GRPEL1", "organism": "Human", "refseq_name": "grpE protein homolog 1, mitochondrial precursor", "refseq_ac": [ { "id": "NP_079472", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079472", "type": "external" } ], "gene_names_uniprotkb": "GRPEL1; GREPEL1", "gene_names_refseq": "GRPEL1; GrpE; HMGE; mt-GrpE#1", "protein_names_uniprotkb": "GrpE protein homolog 1, mitochondrial; HMGE; Mt-GrpE#1", "protein_names_refseq": "GrpE-like protein cochaperone; grpE protein homolog 1, mitochondrial precursor; grpE protein homolog 1, mitochondrial", "tax_id": 9606, "disease": "middle cerebral artery infarction (Disease Ontology:DOID:3525)", "pathway": " (hsa:80273); (R-HSA-1268020); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 59, "publication_id_list": "11237011;11311562;11747608;12840016;14519844;14726512;14762106;15084397;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19608861;19767391;19962426;20068231;20593814;20877624;21750375;21911577;23041349;23481700;23597483;23811401;25315652;25892735;26092250;26375851;26697887;27108190;28228285;28510447;28832583;29242379;29902443;30599162;31217245;31636012;31844290;32161166;32387766;32897882;32938616;32983136;33141586;33177556;33298915;33968037;35051231;35215846;36010968;38665916;39445986", "class_list": "", "function": "Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner (By similarity). Seems to control the nucleotide-dependent binding of mitochondrial HSP70 to substrate proteins (PubMed:11311562)., [UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Preferential binding of ADP-bound mitochondrial HSP70 to the nucleotide exchange factor GRPEL1 over GRPEL2., [RefSeq, PubMed]; The low resolution structure of human GrpE presented suggests that GrpE is a symmetric dimer when not bound to DnaK, [RefSeq, PubMed]; These data demonstrate that LIV-1-GRPEL1 axis dually regulates mitotic exit as well as apoptosis by interacting with PP2A B55alpha and AIF., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R783;Q549M6", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0000774 adenyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0001405 PAM complex, Tim23 associated import motor", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006457 protein folding;GO:0030150 protein import into mitochondrial matrix", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9HAV7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXP7-1", "uniprot_id": [ { "id": "GIN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXP7", "type": "external" } ], "mass": 59842.0, "length": 522, "protein_name": "Gypsy retrotransposon integrase-like protein 1", "gene_name": "GIN1", "organism": "Human", "refseq_name": "gypsy retrotransposon integrase-like protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001304883", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304883", "type": "external" } ], "gene_names_uniprotkb": "GIN1; TGIN1; ZH2C2", "gene_names_refseq": "GIN-1; GIN1; TGIN1; ZH2C2", "protein_names_uniprotkb": "Gypsy retrotransposon integrase-like protein 1; GIN-1; Ty3/Gypsy integrase 1; Zinc finger H2C2 domain-containing protein", "protein_names_refseq": "Ty3/Gypsy integrase 1; gypsy retrotransposon integrase-like protein 1 isoform 2; gypsy retrotransposon integrase-like protein 1; zinc finger H2C2 domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:54826)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11470852;18452278;18507432;23186163;24715725;26992070;28218747;28228285;28832583;28904123;29437277;29557506;30192525;30315122;30484775;30524438;31844290;32897882;33912179;33968037;35051231;36215666;36241641", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RXF7;B4DIV4;Q6AI03;Q96BR2", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "", "go_biological_process": "GO:0015074 DNA integration", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9NXP7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGN9-1", "uniprot_id": [ { "id": "IGLO5_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGN9", "type": "external" } ], "mass": 36795.0, "length": 336, "protein_name": "IgLON family member 5", "gene_name": "IGLON5", "organism": "Human", "refseq_name": "igLON family member 5 precursor", "refseq_ac": [ { "id": "NP_001094842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094842", "type": "external" } ], "gene_names_uniprotkb": "IGLON5", "gene_names_refseq": "IGLON5", "protein_names_uniprotkb": "IgLON family member 5", "protein_names_refseq": "Ig-like domain-containing protein ENSP00000270642; hCG1651476; igLON family member 5 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:402665)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "24703753;29769354;30956130;32157095;33531378;35580925;38364528", "class_list": "", "function": "Anti-IgLON5 Disease: A New Bulbar-Onset Motor Neuron Mimic Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Findings report 89 unpublished cell-surface ligand-receptor pairs and describe structural models of trans interactions of cell adhesion molecules, neuronal (IgLON5), showing that their structures are compatible with a model of interaction across the synaptic cleft., [RefSeq, PubMed]; Papillitis associated with IgLON5 autoimmunity: A novel clinical phenotype., [RefSeq, PubMed]; The target antigen of patients with rapid-eye-movement parasomnia who produce antibodies (mainly IgG4) against IgLON5 is a neuronal cell adhesion molecule that suggests a tauopathy Erratum:[Lancet Neurol. 2015 Jan;14(1):28], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0051963 regulation of synapse assembly;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;GO:0008038 neuron recognition", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A6NGN9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B9A064-1", "uniprot_id": [ { "id": "IGLL5_HUMAN", "url": "https://www.uniprot.org/uniprot/B9A064", "type": "external" } ], "mass": 23063.0, "length": 214, "protein_name": "Immunoglobulin lambda-like polypeptide 5", "gene_name": "IGLL5", "organism": "Human", "refseq_name": "immunoglobulin lambda-like polypeptide 5 isoform 1", "refseq_ac": [ { "id": "NP_001171597", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171597", "type": "external" } ], "gene_names_uniprotkb": "IGLL5", "gene_names_refseq": "IGLL5; IGLV; VL-MAR", "protein_names_uniprotkb": "Immunoglobulin lambda-like polypeptide 5; G lambda-1; Germline immunoglobulin lambda 1", "protein_names_refseq": "G lambda-1; IGLV1-40*01, IGLJ1*01, IGLC1*02; IGLV2-14*03, IGLJ1*01, IGLC1*02; IGLV2-23*01, IGLJ1*01, IGLC1*02; Immunoglobulin light chain full-length; anti HBs antibody light-chain Fab fragment; anti-SARS-CoV-2 immunoglobulin light chain; germline immunoglobulin lambda 1; immunoglobin anti-granzymeB light chain variable region; immunoglobulin lambda 1 light chain; immunoglobulin lambda 2 light chain; immunoglobulin lambda 3 light chain; immunoglobulin lambda chain; immunoglobulin lambda light chain variable region; immunoglobulin lambda-3 surrogate light chain; immunoglobulin lambda-like polypeptide 5 isoform 1; immunoglobulin light chain variable region EM1-PPS-4-L1-1; omega light chain protein 14.1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100423062)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;1703205;18477386;1900243;24714562;26374642;31844290;32350084;33449444;34357683;38665916", "class_list": "", "function": "IGLL5 is correlated with tumor-infiltrating immune cells in clear cell renal cell carcinoma., [RefSeq, PubMed]; This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0071735 IgG immunoglobulin complex;GO:0005576 extracellular region", "go_biological_process": "GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "B9A064-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9JVW0-1", "uniprot_id": [ { "id": "INAM1_HUMAN", "url": "https://www.uniprot.org/uniprot/C9JVW0", "type": "external" } ], "mass": 14668.0, "length": 142, "protein_name": "Putative transmembrane protein INAFM1", "gene_name": "INAFM1", "organism": "Human", "refseq_name": "putative transmembrane protein INAFM1", "refseq_ac": [ { "id": "NP_848606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848606", "type": "external" } ], "gene_names_uniprotkb": "INAFM1; PRR24", "gene_names_refseq": "INAFM1; PRR24", "protein_names_uniprotkb": "Putative transmembrane protein INAFM1; InaF-motif-containing protein 1; Proline-rich protein 24", "protein_names_refseq": "inaF-motif-containing protein 1; proline rich 24; proline-rich protein 24; putative transmembrane protein INAFM1", "tax_id": 9606, "disease": "", "pathway": " (hsa:255783)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "31611695", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "C9JVW0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01860-2", "uniprot_id": [ { "id": "IGHG3_HUMAN", "url": "https://www.uniprot.org/uniprot/P01860", "type": "external" } ], "mass": 49093.0, "length": 446, "protein_name": "Immunoglobulin heavy constant gamma 3", "gene_name": "IGHG3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHG3", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy constant gamma 3; HDC; Heavy chain disease protein; Ig gamma-3 chain C region", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-977606)", "pathway_count": 8, "publication_count": 203, "publication_id_list": "10.1021/acs.analchem.6b02887;10219243;10224668;10496324;10531307;10559936;10574203;10579907;1067618;10724160;10781580;10861086;10878810;10925294;10995437;11157975;11231582;11276226;11278486;11329366;11340081;11340299;11406581;11425868;11500028;11553796;11694537;11747816;11749377;11804587;11829459;11854399;11939578;12055245;12055636;12105426;12117970;12189515;12213210;12235133;12396008;12417718;1249422;12652077;12660731;12743368;12869549;1314888;1372004;1386357;14280442;14676198;15040784;15161916;15199963;15294978;15452139;15536084;15572068;15657136;15809313;15879134;16079145;16192651;16262445;16335952;1639758;16497229;16546099;16641196;16678913;16702231;16880808;16921024;16999828;17182573;17188549;17202194;17308335;17505110;17576170;17590538;18070890;18391171;18818202;19159218;19741094;1979064;19955216;20176268;20357243;21037092;2138613;21419341;21609021;21788512;22158414;22802338;23382691;23487775;2363690;23675550;23865566;2420889;2465906;2466593;24680513;2474607;2481448;25004930;2529342;25505266;25685702;25759508;26536155;28035807;28566370;29242379;293688;293746;29445378;29485866;2956252;29671580;2971659;29741879;301546;30459171;3081877;3567160;37217939;37421619;38253038;3848661;39983994;402363;4098172;6019133;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6774747;6808505;6811139;6906228;702059;70787;7391570;7391573;7512959;7516890;7517665;7521687;7522622;7530449;7540366;7542572;760802;761607;7690834;7691959;7718892;7848918;814163;8226994;8228618;823945;8327478;8340414;8345200;8495193;8538770;8541526;8611682;8657103;8786315;8809042;8862523;8870235;8943402;8986718;9000504;9038722;9042338;9050880;9126488;9162098;9314552;9600938;9705280;978134;9799231;9843499;9857068;9883880;9885284;9973503", "class_list": "", "function": "Constant region of immunoglobulin (Ig) heavy chains. Igs are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound Igs serve as receptors, which upon binding to a specific antigen trigger the clonal expansion and differentiation of B lymphocytes into Ig-secreting plasma cells. Secreted Igs known as antibodies mediate the effector phase of humoral immunity by blocking the interaction of infectious antigens with cellular receptors (via the antigen-binding region) and eliciting effector mechanisms that lead to pathogen neutralization (via the constant region) (PubMed:17576170, PubMed:20176268, PubMed:22158414). The antigen-binding region is formed by the variable domain of one heavy chain paired with the variable domain of its associated light chain. Each Ig molecule has two antigen-binding sites with remarkable affinity for a particular antigen due to V-(D)-J rearrangement, somatic hypermutations and affinity maturation of the variable domains upon antigen exposure (PubMed:17576170, PubMed:20176268, PubMed:22158414). The constant region defines the Ig isotype that perform distinct sets of effector functions. B cells diversify and rearrange their Ig constant regions through class-switch recombination, a process by which the constant region is switched from one Ig isotype to another, namely from IgM and IgD to IgG, IgA and IgE (PubMed:17576170, PubMed:20176268, PubMed:22158414). The constant region of Ig gamma-3 (IgG3) isotype interacts (via the fragment crystallizable, Fc) with receptors on innate immune cells and the complement system to mediate humoral effector functions, including antibody-dependent cellular cytotoxicity or phagocytosis, complement-dependent cytotoxicity and inflammatory responses., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 32, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 128, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A0A075B6N8;A0A286YES1;A0A4W9A917;A2NU35", "ec_number_list": [], "go_molecular_function": "GO:0034987 immunoglobulin receptor binding;GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0002250 adaptive immune response;GO:0050853 B cell receptor signaling pathway;GO:0006958 complement activation, classical pathway", "synthesized_glycan_count": 0, "hit_score": 34.4, "record_id": "P01860-2", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01861-2", "uniprot_id": [ { "id": "IGHG4_HUMAN", "url": "https://www.uniprot.org/uniprot/P01861", "type": "external" } ], "mass": 43832.0, "length": 396, "protein_name": "Immunoglobulin heavy constant gamma 4", "gene_name": "IGHG4", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHG4", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy constant gamma 4; Ig gamma-4 chain C region", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-6785807); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-977606)", "pathway_count": 9, "publication_count": 296, "publication_id_list": "10.1101/2023.09.13.557529;10023775;10219243;10219247;10224668;10369418;10496324;10510379;10531307;10559936;10574203;10579907;10586089;1067618;10724160;10781580;10861086;10867011;10878810;10925294;10995437;11058569;11084045;11104795;11120780;11157975;11231582;11276226;11278437;11278486;11278729;11329366;11340081;11340299;11356008;11404481;11406581;11425868;11463377;11553796;11694537;11747816;11749377;11804587;11829459;11854399;11939578;11960372;12055245;12055636;12105426;12117970;12189515;12213210;12223527;12235133;12242343;12396008;12417718;1249422;12600988;12652077;12660731;12743368;12832402;12869549;1314888;1372004;1386357;14280442;14634100;14676198;14712222;15040784;15116091;15161916;15199963;15261459;15294978;15452139;15536084;15572068;15584925;15657136;15805299;15809313;15869882;15879134;15950906;16007214;16048438;16079145;16107692;16192651;16205632;16219319;16236134;16262445;16397018;1639758;16451196;16497229;16510571;16540365;16546099;16606674;16641196;16678913;16702231;16880808;16921024;16999828;17182573;17188549;17202194;17308335;17427945;17458857;17505110;17572495;17576170;17590538;18070890;18243101;18353781;18391171;18447642;18514042;18644974;18818202;19124156;19139490;19159218;19185846;19397496;19741094;19955216;20176268;20357243;20493732;21037092;21102457;21252155;2138613;21419341;21689689;21730069;21788512;21937440;21994466;22046235;22158414;22184099;22205702;22383755;22693070;22802338;22851691;23086340;23124025;23172665;23382691;23455323;23487775;23555662;2363690;23675550;23865566;23967200;24097101;24190977;2420889;24530628;2465906;2466593;24680513;24743777;2474607;24766575;2481448;24841998;25004930;25234944;2529342;25685702;25733881;28566370;29133956;29314611;293688;293746;29391424;29393594;2956252;29632046;29671580;2971659;29741879;29786170;29992770;301546;30192525;30429286;30659065;33563762;34725484;3567160;37095254;37217939;37421619;38253038;3848661;39983994;4098172;4192699;6019133;6214588;6219696;6222381;6230668;6238120;6299662;6334079;6454142;6607952;670886;6906228;702059;70787;7391570;7391573;7510216;7512451;7512959;7516890;7517665;7521687;7522622;7529288;7530449;7540366;7542572;760802;761607;7690834;7691959;7718892;7795521;7796300;7848918;7898939;7907877;8085155;814163;8226994;8228618;8327478;8340414;8345200;8495193;8538770;8541526;8602263;8611682;8621622;8657103;8663118;8668165;8786315;8797861;8809042;8816495;8862523;8870235;8986718;9000504;9013879;9038722;9042338;9050880;9162098;9314552;9600938;9651359;9705280;9723655;9736340;978134;9799231;9822675;9843499;9857068;9874564;9883880;9885284;9973503", "class_list": "", "function": "Constant region of immunoglobulin (Ig) heavy chains. Igs are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound Igs serve as receptors, which upon binding to a specific antigen trigger the clonal expansion and differentiation of B lymphocytes into Ig-secreting plasma cells. Secreted Igs known as antibodies mediate the effector phase of humoral immunity by blocking the interaction of infectious antigens with cellular receptors (via the antigen-binding region) and eliciting effector mechanisms that lead to pathogen neutralization (via the constant region) (PubMed:17576170, PubMed:20176268, PubMed:22158414). The antigen-binding region is formed by the variable domain of one heavy chain paired with the variable domain of its associated light chain. Each Ig molecule has two antigen-binding sites with remarkable affinity for a particular antigen due to V-(D)-J rearrangement, somatic hypermutations and affinity maturation of the variable domains upon antigen exposure (PubMed:17576170, PubMed:20176268, PubMed:22158414). The constant region defines the Ig isotype that perform distinct sets of effector functions. B cells diversify and rearrange their Ig constant regions through class-switch recombination, a process by which the constant region is switched from one Ig isotype to another, namely from IgM and IgD to IgG, IgA and IgE (PubMed:17576170, PubMed:20176268, PubMed:22158414). The constant region interacts (via the fragment crystallizable, Fc) with the Fc receptors on innate immune cells to mediate humoral effector functions. Ig gamma-4 (IgG4) isotype does not elicit antibody-dependent cellular cytotoxicity (ADDC) or complement-dependent cytotoxicity (CDC). Instead it is likely involved in immune tolerance mechanisms to allergens and parasites either by blocking IgE-antigen complex formation or by directly inhibiting mast cell degranulation through Fc receptor signaling. In the context of tumorigenesis, it may participate in immunosuppressive mechanisms., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 29, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 151, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0A286YFJ8", "ec_number_list": [], "go_molecular_function": "GO:0034987 immunoglobulin receptor binding;GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0002250 adaptive immune response;GO:0050853 B cell receptor signaling pathway;GO:0006958 complement activation, classical pathway", "synthesized_glycan_count": 0, "hit_score": 45.5, "record_id": "P01861-2", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01876-2", "uniprot_id": [ { "id": "IGHA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P01876", "type": "external" } ], "mass": 42849.0, "length": 398, "protein_name": "Immunoglobulin heavy constant alpha 1", "gene_name": "IGHA1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHA1", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy constant alpha 1; Ig alpha-1 chain C region BUR; Ig alpha-1 chain C region TRO; Ig alpha-1 chain C region", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-202733); (R-HSA-2168880)", "pathway_count": 2, "publication_count": 155, "publication_id_list": "40667337;10.1021/acs.analchem.6b02887;1008494;10211705;10381560;10606205;107164;10764623;11196644;11207550;11256994;11290337;11340299;11564780;11779189;11812992;11877257;12070135;12208882;12469115;1252417;12782713;1280920;13342742;13472068;14529530;14615387;15000751;15084671;15448162;15528364;15542058;15681301;15697213;15721307;1591491;15947085;16046400;16189277;16258728;16297198;1646599;16585556;16691243;16737840;16778136;16783819;17008602;17050773;17064312;17099249;17102136;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17576170;17580308;17600130;17615384;17625065;17845074;18556779;19139490;19279206;19324878;19650691;1979064;19838169;20030399;20176268;20430887;20823119;20920479;21193412;21659548;22067045;22158414;22171320;2241915;22492620;22922649;23945545;24043627;24764293;24766575;24841998;2538457;2628063;26510530;26853435;2737211;28035807;2806549;2833500;28679431;28832583;29671580;29741879;29992770;30192525;30397120;30429286;30459171;30570353;30659065;31959827;32029686;32125861;33608772;34725484;36677706;38665916;3891754;393607;4074707;4172099;4327491;4373463;4436308;468991;496916;5135507;6421489;6480598;6811139;6849882;7215351;7263686;7287740;7378053;7506257;7509040;7521878;809331;8163559;8166770;8314844;8424694;8855948;9052782;9169774;9242610;9295288;9382878;9442070;9693095;971416;9763524", "class_list": "", "function": "Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). Ig alpha is the major immunoglobulin class in body secretions (PubMed:2241915)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 1, "mined_o_glycosites": 2, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 9, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 41, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 151, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A0A286YEY1", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0006955 immune response;GO:0019731 antibacterial humoral response;GO:0002250 adaptive immune response;GO:0050853 B cell receptor signaling pathway;GO:0003094 glomerular filtration", "synthesized_glycan_count": 0, "hit_score": 32.1, "record_id": "P01876-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100110000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01880-2", "uniprot_id": [ { "id": "IGHD_HUMAN", "url": "https://www.uniprot.org/uniprot/P01880", "type": "external" } ], "mass": 47500.0, "length": 430, "protein_name": "Immunoglobulin heavy constant delta", "gene_name": "IGHD", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHD", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy constant delta; Ig delta chain C region NIG-65; Ig delta chain C region WAH; Ig delta chain C region", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-5690714); (R-HSA-9679191); (R-HSA-983695)", "pathway_count": 3, "publication_count": 137, "publication_id_list": "10051622;10087012;10432293;10498607;10556826;10648173;10702483;10706702;10770799;1081164;10880360;10983984;11042164;11071869;11226282;11282392;11340299;11449366;11606584;11901194;11909947;11994425;12181444;12453414;12456653;12573241;1372019;1374290;1375264;1376928;15161916;15187135;1550550;15509800;15557177;1599430;16115318;16335952;16408005;16522641;16849466;16895553;16906149;1702903;1705565;17224452;17452328;17486119;17576170;17662961;18006696;18025150;18052078;18187424;18326500;18420269;18596693;18818202;18843204;18995841;19159218;19206206;19249086;19372136;2011584;20176268;20192804;20223979;21408196;21469132;21822214;22158414;22180443;22210847;22401777;22552008;22814904;2303036;2304550;23641311;23836650;24190977;24272870;24584101;2518659;25801024;26002965;27452731;28425720;28446606;28832583;28834231;29242379;29391424;29632711;29945920;30201761;30459171;31048504;3500860;3922054;4589993;6335036;6619128;6785754;6787589;6947220;7008791;7092891;7524079;7528218;7538118;7561031;7592958;7618087;7687428;7687539;7688784;7691807;7706301;7927516;803528;8163536;8306975;8475064;8774350;8947047;9235916;9326643;9341187;9382888;9480991;9547345;9601638;9697839;9705962;9890995", "class_list": "", "function": "Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). IgD is the major antigen receptor isotype on the surface of most peripheral B-cells, where it is coexpressed with IgM. The membrane-bound IgD (mIgD) induces the phosphorylation of CD79A and CD79B by the Src family of protein tyrosine kinases. Soluble IgD (sIgD) concentration in serum below those of IgG, IgA, and IgM but much higher than that of IgE. IgM and IgD molecules present on B cells have identical V regions and antigen-binding sites. After the antigen binds to the B-cell receptor, the secreted form sIgD is shut off. IgD is a potent inducer of TNF, IL1B, and IL1RN. IgD also induces release of IL6, IL10, and LIF from peripheral blood mononuclear cells. Monocytes seem to be the main producers of cytokines in vitro in the presence of IgD (PubMed:10702483, PubMed:11282392, PubMed:8774350)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 7, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 9, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 57, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WUS7;Q6P4I8;Q8WU38", "ec_number_list": [], "go_molecular_function": "GO:0034987 immunoglobulin receptor binding;GO:0003823 antigen binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0072562 blood microparticle;GO:0042571 immunoglobulin complex, circulating", "go_biological_process": "GO:0006955 immune response;GO:0019731 antibacterial humoral response;GO:0002250 adaptive immune response;GO:0050853 B cell receptor signaling pathway;GO:0032732 positive regulation of interleukin-1 production", "synthesized_glycan_count": 0, "hit_score": 20.8, "record_id": "P01880-2", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09912-1", "uniprot_id": [ { "id": "IFI6_HUMAN", "url": "https://www.uniprot.org/uniprot/P09912", "type": "external" } ], "mass": 12927.0, "length": 130, "protein_name": "Interferon alpha-inducible protein 6", "gene_name": "IFI6", "organism": "Human", "refseq_name": "interferon alpha-inducible protein 6 isoform a precursor", "refseq_ac": [ { "id": "NP_002029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002029", "type": "external" } ], "gene_names_uniprotkb": "IFI6; G1P3", "gene_names_refseq": "6-16; FAM14C; G1P3; IFI-6-16; IFI616; IFI6", "protein_names_uniprotkb": "Interferon alpha-inducible protein 6; Ifi-6-16; Interferon-induced protein 6-16", "protein_names_refseq": "interferon alpha-inducible protein 6 isoform a precursor; interferon, alpha-inducible protein clone IFI-6-16; interferon-induced protein 6-16", "tax_id": 9606, "disease": "", "pathway": " (hsa:2537); (R-HSA-909733); (R-HSA-9909505)", "pathway_count": 3, "publication_count": 160, "publication_id_list": "10.1074/mcp.M114.046862;10395669;10542297;10982844;11092454;11337497;11377645;11404376;11585831;12029096;12507814;12766484;12842042;14728724;14769151;15047845;15312780;15449939;15685448;15778442;16009940;16171819;16987978;17251292;1730654;17351669;17823654;17969444;18035202;18057259;18575461;20112406;20130243;20363976;20643137;2211721;22869377;23061660;23121362;23481700;24417533;24714562;24715725;25371710;25418920;25469497;25576301;25645385;25757571;25813380;25892735;26101251;26154972;26244642;26375851;26728094;26811146;26929215;26992070;27543614;27600516;27673746;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28904123;29242379;29331515;29393594;29437277;29557506;29632046;29632711;29769354;29786170;29789417;29899394;30169894;3017706;30224801;30315122;30410026;30429286;30485383;30833945;31142663;31154438;31217245;31434731;31455651;31844290;31848261;32032529;32113509;32157095;32161166;32265295;32387766;32488085;32502341;32511913;32574262;32661006;32758689;32862111;32938616;32983136;33043033;33117408;33123756;33189161;33193462;33396578;33592498;33717175;33868257;33936100;33968037;34087483;34171305;34509645;34932366;35051231;35318648;35580925;35883685;36010968;36241641;36284347;36581221;36793726;37067145;37661181;37670388;37938771;38253038;6162102;6548414;688397;7510216;7526154;7537377;7540766;7596809;8197134;8232552;8605876;8621447;8702790;9096384;9121453;9242679;9334213;9660177;9847332;9861020", "class_list": "", "function": "BM-MSCs display altered gene expression profiles in B-cell acute lymphoblastic leukemia niches and exert pro-proliferative effects via overexpression of IFI6. Publication Status: Online-Only, [RefSeq, PubMed]; IDO1, FAT10, IFI6, and GILT Are Involved in the Antiretroviral Activity of gamma-Interferon and IDO1 Restricts Retrovirus Infection by Autophagy Enhancement. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon alpha inducible protein 6 is a negative regulator of innate immune responses by modulating RIG-I activation. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon-stimulated protein that plays an important role in innate immune response against a wide variety of viruses (PubMed:31142663). Inhibits flavivirus replication by preventing the formation of virus-induced endoplasmic reticulum membrane invaginations, which are double-membrane vesicles that flaviviruses use for their replication (PubMed:30224801). Has an antiviral activity towards hepatitis C virus/HCV by inhibiting the EGFR signaling pathway, whose activation is required for entry of the virus into cells (PubMed:25757571). Within the nucleus, restricts hepatitis B virus/HBV promoter activity leading to substantial reduction of viral replication and gene expression (PubMed:33868257). Plays a role in apoptosis, negatively regulating the intrinsinc apoptotic signaling pathway and TNFSF10-induced apoptosis (PubMed:15685448, PubMed:17823654, PubMed:26244642). However, it has also been shown to have a pro-apoptotic activity (PubMed:27673746). Modulates innate immune response mediated by RIGI by preventing its activation (PubMed:36793726)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Role of interferon alpha-inducible protein 6 in modulating the proliferation, apoptosis and senescence of oesophageal squamous cell carcinoma cells., [RefSeq, PubMed]; The role of glucose-dependent insulinotropic polypeptide 3 (G1P-3) and nucleolar phosphoprotein-1 (NPM1) in pathogenesis of psoriasis., [RefSeq, PubMed]; This gene was first identified as one of the many genes induced by interferon. The encoded protein may play a critical role in the regulation of apoptosis. A minisatellite that consists of 26 repeats of a 12 nucleotide repeating element resembling the mammalian splice donor consensus sequence begins near the end of the second exon. Alternatively spliced transcript variants that encode different isoforms by using the two downstream repeat units as splice donor sites have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q13141;Q13142;Q5VVR2;Q5VVR3;Q6IE95;Q969M8", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006955 immune response;GO:0043066 negative regulation of apoptotic process;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 16.4, "record_id": "P09912-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CF74-1", "uniprot_id": [ { "id": "IGLC6_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CF74", "type": "external" } ], "mass": 11277.0, "length": 106, "protein_name": "Immunoglobulin lambda constant 6", "gene_name": "IGLC6", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLC6", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda constant 6; Ig lambda-6 chain C region", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-198933); (R-HSA-202733); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2168880); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, "publication_count": 547, "publication_id_list": 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"class_list": "immunoglobin", "function": "Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0071735 IgG immunoglobulin complex", "go_biological_process": "GO:0002250 adaptive immune response;GO:0050853 B cell receptor signaling pathway;GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 54.8, "record_id": "P0CF74-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13478-1", "uniprot_id": [ { "id": "IL18R_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13478", "type": "external" } ], "mass": 62304.0, "length": 541, "protein_name": "Interleukin-18 receptor 1", "gene_name": "IL18R1", "organism": "Human", "refseq_name": "interleukin-18 receptor 1 isoform 2", "refseq_ac": [ { "id": "NP_001269328", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269328", "type": "external" } ], "gene_names_uniprotkb": "IL18R1; IL1RRP", "gene_names_refseq": "CD218a; CDw218a; IL-18R-alpha; IL-18Ralpha; IL-18R; IL-1Rrp; IL18R1; IL18RA; IL18Ralpha2; IL1RRP", "protein_names_uniprotkb": "Interleukin-18 receptor 1; 3.2.2.6; CD218 antigen-like family member A; CDw218a; IL-18R-1; IL-18R-alpha; IL-18R1; IL-18Ralpha; IL-1Rrp; IL1 receptor-related protein; IL1R-rp; Interleukin-18 receptor alpha", "protein_names_refseq": "CD218 antigen-like family member A; IL1 receptor-related protein; cytokine receptor; interleukin-18 receptor 1 isoform 2; interleukin-18 receptor alpha", "tax_id": 9606, "disease": "pulmonary sarcoidosis (Disease Ontology:DOID:13406); asthma (Disease Ontology:DOID:2841); pulmonary fibrosis (Disease Ontology:DOID:3770); hepatocellular carcinoma (Disease Ontology:DOID:684); lung disease (Disease Ontology:DOID:850)", "pathway": " (hsa:8809); (R-HSA-9008059); (R-HSA-9012546)", "pathway_count": 3, "publication_count": 48, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10023777;10653850;10925275;11046021;11145836;11839743;12096920;12381835;12809600;14528293;15527767;18390730;18991276;20935647;23584533;24190977;24481253;25261253;25500532;25502872;25729923;27060871;28092676;28904123;29557506;31844290;32157095;32350084;32502341;32938616;33141586;33298915;33522333;33912179;34357683;35051231;35154160;35251023;36010968;36544782;37074911;37993714;39292786;8626725;9325300;9792649", "class_list": "", "function": "ACSL6-activated IL-18R1-NF-kappaB promotes IL-18-mediated tumor immune evasion and tumor progression., [RefSeq, PubMed]; Downregulation of T-cell cytotoxic marker IL18R1 promotes cancer proliferation and migration and is associated with dismal prognosis and immunity in lung squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; IL18-family Genes Polymorphism Is Associated with the Risk of Myocardial Infarction and IL18 Concentration in Patients with Coronary Artery Disease., [RefSeq, PubMed]; The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]., [RefSeq]; Within the IL18 receptor complex, responsible for the binding of the pro-inflammatory cytokine IL18, but not IL1A nor IL1B (PubMed:14528293, PubMed:25261253, PubMed:25500532, PubMed:37993714, PubMed:8626725). Involved in IL18-mediated IFNG synthesis from T-helper 1 (Th1) cells (PubMed:10653850). Contributes to IL18-induced cytokine production, either independently of SLC12A3, or as a complex with SLC12A3 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 5, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 5, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B2R9Y5;Q52LC9", "ec_number_list": [ { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.4.99.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.20", "type": "external" }, { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0004908 interleukin-1 receptor activity;GO:0042007 interleukin-18 binding;GO:0061809 NAD+ nucleosidase activity, cyclic ADP-ribose generating;GO:0038023 signaling receptor activity;GO:0042008 interleukin-18 receptor activity", "go_cellular_component": "GO:0045092 interleukin-18 receptor complex;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0045063 T-helper 1 cell differentiation;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007165 signal transduction;GO:0050830 defense response to Gram-positive bacterium", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q13478-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53TQ3-1", "uniprot_id": [ { "id": "IN80D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53TQ3", "type": "external" } ], "mass": 113202.0, "length": 1027, "protein_name": "INO80 complex subunit D", "gene_name": "INO80D", "organism": "Human", "refseq_name": "INO80 complex subunit D", "refseq_ac": [ { "id": "NP_060229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060229", "type": "external" } ], "gene_names_uniprotkb": "INO80D", "gene_names_refseq": "INO80D", "protein_names_uniprotkb": "INO80 complex subunit D", "protein_names_refseq": "INO80 complex subunit D", "tax_id": 9606, "disease": "", "pathway": " (hsa:54891); (R-HSA-5689603); (R-HSA-5696394)", "pathway_count": 3, "publication_count": 57, "publication_id_list": "10391953;11237011;11279143;12732143;12815074;12944386;14742321;15811629;15882621;15964821;16223728;16230350;16473935;16678110;16906146;17139257;17882165;18497827;18922472;19109893;19188440;19609301;19815555;20068231;20436459;20805357;20855601;21135142;21303910;21388382;22118460;23045548;23186163;23319653;23481700;25122053;2530630;28218747;28832583;29750421;31844290;32157095;32387766;32502341;32897882;32938616;32983136;33912179;33968037;34509645;34932366;35051231;35580925;38665916;8168482;9528852;9790970", "class_list": "", "function": "Expression levels of CR933609 and INO80D were decreased in CR933609-knockdown NSCLC cells, but only expression levels of INO80D decreased in INO80D knockdown cells. It was shown that there are independent promoters in CR933609 and INO80D, [RefSeq, PubMed]; INO80D is a subunit of the human INO80 chromatin remodeling complex; its Ser818Cys mutation has a role in accelerated arterial aging, [RefSeq, PubMed]; Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KU68;B9EG77;Q6PJC6;Q6PJU1;Q6PKA1;Q9NXD5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0060382 regulation of DNA strand elongation;GO:0033044 regulation of chromosome organization;GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q53TQ3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6U949-1", "uniprot_id": [ { "id": "IG2AS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6U949", "type": "external" } ], "mass": 18035.0, "length": 168, "protein_name": "Putative insulin-like growth factor 2 antisense gene protein", "gene_name": "IGF2-AS", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGF2-AS; IGF2-AS1; IGF2AS", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative insulin-like growth factor 2 antisense gene protein; IGF2 antisense RNA 1; IGF2 antisense gene protein 1; IGF2-AS1; PEG8/IGF2AS protein; Putative insulin-like growth factor 2 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "10731720;12702581;36241641", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A5PKV8;A6NNQ2;Q7Z712;Q9P2W0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q6U949-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UW32-1", "uniprot_id": [ { "id": "IGFL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UW32", "type": "external" } ], "mass": 12363.0, "length": 110, "protein_name": "Insulin growth factor-like family member 1", "gene_name": "IGFL1", "organism": "Human", "refseq_name": "insulin growth factor-like family member 1 precursor", "refseq_ac": [ { "id": "NP_940943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940943", "type": "external" } ], "gene_names_uniprotkb": "IGFL1; PRO1274", "gene_names_refseq": "APRG644; IGFL1; UNQ644", "protein_names_uniprotkb": "Insulin growth factor-like family member 1", "protein_names_refseq": "insulin growth factor-like family member 1 precursor; insulin growth factor-like family member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:374918)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12975309;15340161;16890402;19147602;21454693;23090970;24190977;34052325", "class_list": "", "function": "KLF5-induced lncRNA IGFL2-AS1 promotes basal-like breast cancer cell growth and survival by upregulating the expression of IGFL1., [RefSeq, PubMed]; Murine insulin growth factor-like (IGFL) and human IGFL1 proteins are induced in inflammatory skin conditions and bind to a novel tumor necrosis factor receptor family member, IGFLR1., [RefSeq, PubMed]; Probable ligand of the IGFLR1 cell membrane receptor., [UniProtKB, PubMed]; The -1245 A-allele of the IGF1 promoter single nucleotide polymorphism is associated with a small head size and less brain sparing in small for gestational age born subjects, [RefSeq, PubMed]; The protein encoded by this gene is a member of the insulin-like growth factor family of signaling molecules. The encoded protein is synthesized as a precursor protein and is proteolytically cleaved to form a secreted mature peptide. The mature peptide binds to a receptor, which in mouse was found on the cell surface of T cells. Increased expression of this gene may be linked to psoriasis. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6UW32-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDY8-1", "uniprot_id": [ { "id": "IGDC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDY8", "type": "external" } ], "mass": 134210.0, "length": 1250, "protein_name": "Immunoglobulin superfamily DCC subclass member 4", "gene_name": "IGDCC4", "organism": "Human", "refseq_name": "immunoglobulin superfamily DCC subclass member 4 precursor", "refseq_ac": [ { "id": "NP_066013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066013", "type": "external" } ], "gene_names_uniprotkb": "IGDCC4; DDM36; KIAA1628; NOPE", "gene_names_refseq": "DDM36; IGDCC4; NOPE", "protein_names_uniprotkb": "Immunoglobulin superfamily DCC subclass member 4; Neighbor of punc e11; Protein DDM36; hDDM36", "protein_names_refseq": "immunoglobulin superfamily DCC subclass member 4 precursor; likely ortholog of mouse neighbor of Punc E11", "tax_id": 9606, "disease": "", "pathway": " (hsa:57722)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10.1101/2023.09.13.557529;18669648;20658536;25645385;29391424;29557506;29671580;31217245;32350084;32938616;32983136;32986656;35051231;35246597;35251023;36010968", "class_list": "", "function": "Expression of Neighbor of Punc E11 (NOPE) in early stage esophageal adenocarcinoma is associated with reduced survival. Publication Status: Online-Only, [RefSeq, PubMed]; First evaluation of Neighbor of Punc E11 (NOPE) as a novel marker in human hepatocellular carcinoma., [RefSeq, PubMed]; Identified Nope as a novel oncofetal surface marker for murine and human HCC. Nope is specifically expressed by epithelial tumor cells but not in preneoplastic stages and is a promising marker, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 15, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q9HCE4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0098609 cell-cell adhesion;GO:0050768 negative regulation of neurogenesis", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8TDY8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BY32-1", "uniprot_id": [ { "id": "ITPA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BY32", "type": "external" } ], "mass": 21446.0, "length": 194, "protein_name": "Inosine triphosphate pyrophosphatase", "gene_name": "ITPA", "organism": "Human", "refseq_name": "inosine triphosphate pyrophosphatase isoform c", "refseq_ac": [ { "id": "NP_001254552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254552", "type": "external" } ], "gene_names_uniprotkb": "ITPA; C20orf37; My049; SW-cl.9", "gene_names_refseq": "C20orf37; DEE35; HLC14-06-P; ITPA; ITPase; My049; NTPase; dJ794I6.3", "protein_names_uniprotkb": "Inosine triphosphate pyrophosphatase; 3.6.1.66; ITPase; Inosine triphosphatase; NTPase; Non-canonical purine NTP pyrophosphatase; Non-standard purine NTP pyrophosphatase; Nucleoside-triphosphate diphosphatase; Nucleoside-triphosphate pyrophosphatase; Putative oncogene protein hlc14-06-p; XTP/dITP diphosphatase", "protein_names_refseq": "XTP/dITP diphosphatase; epididymis secretory sperm binding protein; inosine triphosphatase (nucleoside triphosphate pyrophosphatase); inosine triphosphate pyrophosphatase isoform c; inosine triphosphate pyrophosphohydrolase; non-canonical purine NTP pyrophosphatase; non-standard purine NTP pyrophosphatase; nucleoside-triphosphate diphosphatase; putative oncogene protein HLC14-06-P", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 35 (Disease Ontology:DOID:0080458); thrombocytopenia (Disease Ontology:DOID:1588); hepatitis C (Disease Ontology:DOID:1883); anemia (Disease Ontology:DOID:2355); hemolytic anemia (Disease Ontology:DOID:583); rheumatoid arthritis (Disease Ontology:DOID:7148); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); inosine triphosphatase deficiency (MONDO:MONDO:0013461)", "pathway": " (hsa:3704); (R-HSA-74259); (R-HSA-9755088)", "pathway_count": 3, "publication_count": 114, "publication_id_list": "10075721;10364222;10681516;10766785;11083867;11133996;11278832;11690631;12384777;12436200;12499231;12606760;12750059;12947102;15240697;15861032;15917509;16265592;1637327;16446384;17077483;17090528;17138556;17234634;17301077;17405878;17412768;18635603;19164483;19470646;20081199;20096989;20173735;20486858;20504255;2104852;2129526;21396942;2157703;2159925;23203137;23301498;2344353;24107682;24260472;24714562;24957263;25108359;25576301;25645385;26224535;26375851;26728094;26992070;2737800;27452731;27846572;27920218;280136;28218747;28446606;28467828;2848805;28832583;28834231;29242379;29331515;29437277;29557506;29580856;30045981;3029074;3036115;30429286;30573663;30716294;30779550;31154438;31520644;31530632;31844290;31848261;32157095;32161166;32350084;32387766;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34229054;34509645;34932366;35051231;35154160;35561310;35580925;36241641;36718008;37698399;38097396;38906864;6771276;8626464;8670112;9605565;9647364", "class_list": "", "function": "Association of ITPA 94C>A genetic polymorphisms with azathioprine induced adverse effects in the South Indian population. Publication Status: Online-Only, [RefSeq, PubMed]; Investigation of the Association Between ITPA Gene 94C>A Sequence Variant and Kidney Transplant Rejection in Iranian Kidney Transplant Recipients., [RefSeq, PubMed]; Investigation of the Association Between the ITPA Gene 94C>A Gene Sequence Variant and Liver Transplant Rejection in Iranian Liver Transplant Recipients., [RefSeq, PubMed]; Predictive role of ITPA genetic variants in thiopurine-related myelotoxicity in Crohn's disease patients. Publication Status: Online-Only, [RefSeq, PubMed]; Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triphosphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions., [UniProtKB, HAMAP, PubMed, PubMed]; Sequencing of the genomic DNA from a subject with complete ITP-ase deficiency revealed homozygosity for missense mutation 198C>A. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2A2N2;A4UIM5;B2BCH7;O14878;Q5JWH4;Q9BYN1;Q9BYX0;Q9H3H8", "ec_number_list": [ { "id": "3.6.1.66", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.66", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0000166 nucleotide binding;GO:0047429 nucleoside triphosphate diphosphatase activity;GO:0035870 dITP diphosphatase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0009117 nucleotide metabolic process;GO:0009143 nucleoside triphosphate catabolic process;GO:0009204 deoxyribonucleoside triphosphate catabolic process", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q9BY32-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZP8-1", "uniprot_id": [ { "id": "IMUP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZP8", "type": "external" } ], "mass": 10897.0, "length": 106, "protein_name": "Immortalization up-regulated protein", "gene_name": "IMUP", "organism": "Human", "refseq_name": "immortalization up-regulated protein isoform IMUP-2", "refseq_ac": [ { "id": "NP_001304730", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304730", "type": "external" } ], "gene_names_uniprotkb": "IMUP; C19orf33", "gene_names_refseq": "C19orf33; H2RSP; IMUP-1; IMUP-2; IMUP", "protein_names_uniprotkb": "Immortalization up-regulated protein; H2RSP; HAI-2-related small protein; Hepatocyte growth factor activator inhibitor type 2-related small protein", "protein_names_refseq": "HAI-2 related small protein; hepatocyte growth factor activator inhibitor type 2-related small protein; immortalization up-regulated protein isoform IMUP-2; immortalization up-regulated protein; immortalization-upregulated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64073)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11080599;11606055;14981917;16189703;17081983;18212344;18507030;19651622;20068231;20432246;22886722;23186163;25576301;30429286;35142956;37217939;38071887", "class_list": "", "function": "H2RSP and H2RSP/HAI-2 chimeric peptides might function as a transcriptional regulatory peptide at the nucleus., [RefSeq, PubMed]; Hypoxia-induced down-regulation of XIAP mediates apoptosis in trophoblasts through interaction with increased IMUP-2; this mechanism underlies the pathogenesis of pre-eclampsia., [RefSeq, PubMed]; Immortalization-upregulated protein promotes pancreatic cancer progression by regulating NPM1/FHL1-mediated cell-cycle-checkpoint protein activity., [RefSeq, PubMed]; Nuclear translocation of H2RSP may be related to a signaling involved in the transition from cellular proliferation to differentiation in experimental murine colitis., [RefSeq, PubMed]; Results showed the up-regulation of IMUP-1 and IMUP-2 in human ovarian epithelial tumors and suggested that the altered mRNA level of these molecules is possibly associated with ovarian tumorigenesis, [RefSeq, PubMed]; Results suggest that IMUP-2 expression is specifically elevated in preterm pre-eclampsia and under hypoxic conditions, and that IMUP-2 induces apoptosis of the trophoblast, [RefSeq, PubMed]; The protein encoded by this gene has been shown to be upregulated in SV40-immortalized fibroblasts as well as in endometrial carcinoma cells. The encoded protein is found primarily in the nucleus. This protein may play a role in placental development and diseases such as pre-eclampsia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]; These findings demonstrate the up-regulation of imup-1 and imup-2 in human endometrial carcinomas and indicate that these molecules play a role in endometrial carcinogenesis in both Korean and Japanese patients., [RefSeq, PubMed]; Unraveling dedifferentiation and metastasis traces in pancreatic ductal adenocarcinoma ductal cells: Insights from single-cell RNA sequencing analysis of ITGB4 and C19orf33., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0P6G2;Q96H58;Q9HCR4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9GZP8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPH9-1", "uniprot_id": [ { "id": "IL26_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPH9", "type": "external" } ], "mass": 19843.0, "length": 171, "protein_name": "Interleukin-26", "gene_name": "IL26", "organism": "Human", "refseq_name": "interleukin-26 precursor", "refseq_ac": [ { "id": "NP_060872", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060872", "type": "external" } ], "gene_names_uniprotkb": "IL26; AK155", "gene_names_refseq": "AK155; IL-26; IL26", "protein_names_uniprotkb": "Interleukin-26; IL-26; Protein AK155", "protein_names_refseq": "interleukin-26 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:55801); (R-HSA-8854691)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10729163;10875937;11163236;11196675;11390453;11390454;11481447;11564763;11706020;12087100;12351624;12469119;14558082;14580208;14764663;15120653;15166220;15178681;15919823;1662392;16750817;16982608;17878297;18483078;18599299;18669613;18830264;18941194;19457860;19535621;20462497;20671117;20966397;21098725;22802649;22962576;25004819;27133025;28458652;29242379;35580925;36311716;37155188;38622712;38799447;39003443;7512451;7543512;8830676", "class_list": "", "function": "Common polymorphisms in the IFNgamma/IL-26 gene region may contribute to sex bias in susceptibility to rheumatoid arthritis, by distorting the propensity of female carriers versus male carriers to contract this disease., [RefSeq, PubMed]; IL-26 modulates T cell function in autoimmune hepatitis., [RefSeq, PubMed]; Increased interleukin-26 in the peripheral joints of patients with axial spondyloarthritis and psoriatic arthritis, co-localizing with CD68-positive synoviocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Interleukin-26-DNA complexes promote inflammation and dermal-epidermal separation in a modified human cryosection model of bullous pemphigoid. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in local mechanisms of mucosal immunity and seems to have a pro-inflammatory function. May play a role in inflammatory bowel disease. Activates STAT1 and STAT3, MAPK1/3 (ERK1/2), JUN and AKT. Induces expression of SOCS3, TNF and IL-8, secretion of IL-8 and IL-10 and surface expression of ICAM1. Decreases proliferation of intestinal epithelial cells. Is inhibited by heparin., [UniProtKB, PubMed, PubMed, PubMed]; Sensitivity to recombinant interleukin-26(IL-26) of various cell lines strictly correlated with the expression of IL-20 receptor 1 and blocking antibodies against either IL-10 receptor 2 or IL-20 receptor 1 inhibited IL-26-dependent signal transduction, [RefSeq, PubMed]; Systemic IL-26 correlates with improved asthma control in children sensitized to dog allergen. Publication Status: Online-Only, [RefSeq, PubMed]; The active receptor complex for IL-26 is a heterodimer composed of two receptor proteins: IL-20 receptor 1 and IL-10 receptor 2. Signaling through the IL-26 receptor results in activation of STAT1 and STAT3., [RefSeq, PubMed]; The evolving landscape of IL-10, IL-22 and IL-26 in pleurisy especially in tuberculous pleurisy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene was identified by its overexpression specifically in herpesvirus samimiri-transformed T cells. The encoded protein is a member of the IL10 family of cytokines. It is a secreted protein and may function as a homodimer. This protein is thought to contribute to the transformed phenotype of T cells after infection by herpesvirus samimiri. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol", "go_biological_process": "GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007267 cell-cell signaling;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9NPH9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P38570-1", "uniprot_id": [ { "id": "ITAE_HUMAN", "url": "https://www.uniprot.org/uniprot/P38570", "type": "external" } ], "mass": 130159.0, "length": 1179, "protein_name": "Integrin alpha-E", "gene_name": "ITGAE", "organism": "Human", "refseq_name": "integrin alpha-E isoform 1 precursor", "refseq_ac": [ { "id": "NP_002199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002199", "type": "external" } ], "gene_names_uniprotkb": "ITGAE", "gene_names_refseq": "CD103; HUMINAE; ITGAE", "protein_names_uniprotkb": "Integrin alpha-E; HML-1 antigen; Integrin alpha-IEL; Mucosal lymphocyte 1 antigen", "protein_names_refseq": "HML-1 antigen; alpha polypeptide); alpha polypeptide; antigen CD103, human mucosal lymphocyte antigen 1; human mucosal lymphocyte antigen 1, alpha polypeptide; integrin alpha-E isoform 1 precursor; integrin alpha-E; integrin alpha-IEL; integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; mucosal lymphocyte 1 antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:3682); (R-HSA-216083)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "10209034;10366422;10438935;10543983;10593924;10605720;10640428;10673275;10673366;10713152;10811134;10837471;10982388;11158588;11237011;11518510;11572855;11713259;11980922;12496264;12585966;12682293;12807887;15240572;15330449;15345499;15383545;1542691;15713743;1588291;15899827;16002701;16051604;16239428;16731529;16754661;16933105;17339034;17968485;18710925;18775695;19502598;20033473;2010551;20705068;22539938;22884367;23374253;23481700;24190977;28832583;29786170;32983136;34087483;35051231;35494241;35580925;35776160;36010968;36036450;36792124;37074911;38561495;38781659;7505120;7525578;7541634;7542249;7559467;7685013;8118028;8119947;8344274;8560266;8798654;8838667;8910476;9251239;9443892;9565552;9858236", "class_list": "", "function": "CD103 and CD39 coexpression identifies neoantigen-specific cytotoxic T cells in colorectal cancers with low mutation burden., [RefSeq, PubMed]; Cryo-EM structure of I domain-containing integrin alphaEbeta7., [RefSeq, PubMed]; Integrin ITGAE/ITGB7 (alpha-E/beta-7) is a receptor for E-cadherin. It mediates adhesion of intra-epithelial T-lymphocytes to epithelial cell monolayers., [UniProtKB]; Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008]., [RefSeq]; The multifunctional nature of CD103 (alphaEbeta7 integrin) signaling in tissue-resident lymphocytes. Review article, [RefSeq, PubMed]; The tissue-resident marker CD103 on peripheral blood T cells predicts responses to anti-PD-1 therapy in gastric cancer., [RefSeq, PubMed]; Unconventional human CD61 pairing with CD103 promotes TCR signaling and antigen-specific T cell cytotoxicity., [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 56, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q17RS6;Q9NZU9", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane;GO:0008305 integrin complex", "go_biological_process": "GO:0007229 integrin-mediated signaling pathway;GO:0007160 cell-matrix adhesion;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P38570-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75578-1", "uniprot_id": [ { "id": "ITA10_HUMAN", "url": "https://www.uniprot.org/uniprot/O75578", "type": "external" } ], "mass": 127602.0, "length": 1167, "protein_name": "Integrin alpha-10", "gene_name": "ITGA10", "organism": "Human", "refseq_name": "integrin alpha-10 isoform 2", "refseq_ac": [ { "id": "NP_001289969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289969", "type": "external" } ], "gene_names_uniprotkb": "ITGA10; PRO827", "gene_names_refseq": "ITGA10; PRO827", "protein_names_uniprotkb": "Integrin alpha-10", "protein_names_refseq": "integrin alpha-10 isoform 2; integrin alpha-10", "tax_id": 9606, "disease": "", "pathway": " (hsa:8515); (R-HSA-216083); (R-HSA-447041); (R-HSA-75892)", "pathway_count": 4, "publication_count": 88, "publication_id_list": "10209034;10366422;10438935;10543983;10593924;10605720;10640428;10673366;10702680;10713152;10811134;10982388;11158588;11518510;11572855;11713259;11731273;11943772;11980922;12496264;12585966;12682293;12807887;12975309;15240572;15330449;15345499;15383545;15713743;1588291;15899827;16002701;16051604;16102042;16239428;16684505;16731529;16754661;16933105;17339034;17968485;18710925;18775695;1939645;19413330;19502598;20033473;2010551;20705068;22539938;22706990;22884367;23374253;25892735;29242379;29557506;30429286;30524438;31439947;31742892;32157095;32387766;33592498;33968037;34706747;35051231;36010968;3872140;7505120;7525578;7541634;7542249;7559467;7685013;8118028;8344274;8560266;8639781;8798654;8838667;8910476;9251239;9280292;9331419;9443892;9565552;9685391;9858236", "class_list": "", "function": "Analyses of the functional regulatory domains of the integrin alpha 10 promoter suggest that AP-2epsilon and Ets-1 are involved in the transcriptional regulation of this gene in chondrocytes., [RefSeq, PubMed]; Integrin alpha-10/beta-1 is a receptor for collagen., [UniProtKB]; Integrins are integral transmembrane glycoproteins composed of noncovalently linked alpha and beta chains. They participate in cell adhesion as well as cell-surface mediated signalling. This gene encodes an integrin alpha chain and is expressed at high levels in chondrocytes, where it is transcriptionally regulated by AP-2epsilon and Ets-1. The protein encoded by this gene binds to collagen. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]; Mouse and human articular chondrocytes express extracellular splice variants of the alpha10 subunit, [RefSeq, PubMed]; Systematic screening identifies a 2-gene signature as a high-potential prognostic marker of undifferentiated pleomorphic sarcoma/myxofibrosarcoma., [RefSeq, PubMed]; ZIP10 drives osteosarcoma proliferation and chemoresistance through ITGA10-mediated activation of the PI3K/AKT pathway. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 11, "predicted_n_glycosites": 11, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B2RAM4;B2RTV5;Q6UXJ6;Q9UHZ8", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005518 collagen binding;GO:0038023 signaling receptor activity;GO:0098639 collagen binding involved in cell-matrix adhesion", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0008305 integrin complex;GO:0034680 integrin alpha10-beta1 complex", "go_biological_process": "GO:0007229 integrin-mediated signaling pathway;GO:0007160 cell-matrix adhesion;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "O75578-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05111-1", "uniprot_id": [ { "id": "INHA_HUMAN", "url": "https://www.uniprot.org/uniprot/P05111", "type": "external" } ], "mass": 39670.0, "length": 366, "protein_name": "Inhibin alpha chain", "gene_name": "INHA", "organism": "Human", "refseq_name": "inhibin alpha chain preproprotein", "refseq_ac": [ { "id": "NP_002182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002182", "type": "external" } ], "gene_names_uniprotkb": "INHA", "gene_names_refseq": "INHA", "protein_names_uniprotkb": "Inhibin alpha chain", "protein_names_refseq": "A-inhibin subunit; inhibin alpha chain preproprotein; inhibin alpha chain; inhibin alpha subunit", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); Leydig cell tumor (Disease Ontology:DOID:2696); Sertoli-Leydig cell tumor (Disease Ontology:DOID:2997); invasive ductal carcinoma (Disease Ontology:DOID:3008); embryonal carcinoma (Disease Ontology:DOID:3308); seminoma (Disease Ontology:DOID:4440); dysgerminoma (Disease Ontology:DOID:4441)", "pathway": " (hsa:3623); (R-HSA-1502540); (R-HSA-201451); (R-HSA-209822); (R-HSA-9839406)", "pathway_count": 5, "publication_count": 63, "publication_id_list": "10458166;10587654;10712517;10746731;11016919;11098038;11117535;11121043;11158580;11278251;11509558;11571290;11714695;11779505;11786387;1191677;12151385;12519765;12592392;12821673;12857866;15087470;15123686;16123088;16140969;16527410;16672363;1688430;17029022;17068149;17311849;17356069;17906079;18166170;18951876;24302632;29557506;3016724;31844290;32990126;34910520;35051231;35235537;35853432;35909548;3754442;3758355;6774759;7215288;7644468;7791754;8119126;8196624;8622651;8653785;8721982;8885240;8893010;9032295;9136927;9436979;9459292;9506758", "class_list": "", "function": "Altered Endometrial Expression of alpha-Inhibin Subunit and Its Co-Receptor Betaglycan in Infertile Women with Endometriosis., [RefSeq, PubMed]; Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibin A is a dimer of alpha/INHA and beta-A/INHBA that functions as a feedback regulator in the hypothalamic-pituitary-gonadal (HPG) axis. Inhibits the secretion of FSH from the anterior pituitary gland by acting on pituitary gonadotrope cells. Antagonizes activin A by binding to the proteoglycan, betaglycan, and forming a stable complex with and, thereby, sequestering type II activin receptors while excluding type I receptor., [UniProtKB, UniProtKB]; Inhibin B is a dimer of alpha and beta-B that plays a crucial role in the regulation of the reproductive system by inhibiting the secretion of follicle-stimulating hormone (FSH) from the anterior pituitary gland. Thereby, maintains reproductive homeostasis in both males and females. Acts as a more potent suppressor of FSH release than inhibin A (By similarity). Functions as competitive receptor antagonist binding activin type II receptors with high affinity in the presence of the TGF-beta type III coreceptor/TGFBR3L (PubMed:34910520)., [UniProtKB, PubMed, PubMed, UniProtKB]; Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins., [UniProtKB]; PAPP-A2 and Inhibin A as Novel Predictors for Pregnancy Complications in Women With Suspected or Confirmed Preeclampsia., [RefSeq, PubMed]; Testicular Sertoli Cell Hormones in Differences in Sex Development. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate multiple peptide products, including the alpha subunit of the inhibin A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. Mutations in this gene may be associated with male infertility and premature ovarian failure in female human patients. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K8H5", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0044877 protein-containing complex binding;GO:0005125 cytokine activity;GO:0005179 hormone activity;GO:0034711 inhibin binding", "go_cellular_component": "GO:0043512 inhibin A complex;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0043025 neuronal cell body", "go_biological_process": "GO:0046882 negative regulation of follicle-stimulating hormone secretion;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "P05111-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06756-1", "uniprot_id": [ { "id": "ITAV_HUMAN", "url": "https://www.uniprot.org/uniprot/P06756", "type": "external" } ], "mass": 116038.0, "length": 1048, "protein_name": "Integrin alpha-V", "gene_name": "ITGAV", "organism": "Human", "refseq_name": "integrin alpha-V isoform 2 precursor", "refseq_ac": [ { "id": "NP_001138471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138471", "type": "external" } ], "gene_names_uniprotkb": "ITGAV; MSK8; VNRA; VTNR", "gene_names_refseq": "CD51; IDNDC; ITGAV; MSK8; VNRA; VTNR", "protein_names_uniprotkb": "Integrin alpha-V; Vitronectin receptor subunit alpha; Vitronectin receptor", "protein_names_refseq": "antigen identified by monoclonal antibody L230; integrin alpha-V isoform 2 precursor; integrin alpha-V; integrin alphaVbeta3; integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51); vitronectin receptor subunit alpha", "tax_id": 9606, "disease": "immune dysregulation, neurodevelopmental defects, and colitis (Disease Ontology:DOID:0070720); intellectual disability (Disease Ontology:DOID:1059); hypertension (Disease Ontology:DOID:10763); corneal neovascularization (Disease Ontology:DOID:11382); ischemia (Disease Ontology:DOID:326); hyperglycemia (Disease Ontology:DOID:4195); coronary stenosis (Disease Ontology:DOID:4248); abdominal aortic aneurysm (Disease Ontology:DOID:7693); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:3685); (R-HSA-1236973); (R-HSA-1566948); (R-HSA-210990); (R-HSA-2129379); (R-HSA-216083); (R-HSA-2173789); (R-HSA-3000157); (R-HSA-3000170); (R-HSA-3000178); (R-HSA-4420097); (R-HSA-445144); (R-HSA-6798695); (R-HSA-9856532); (R-HSA-9860927)", "pathway_count": 15, "publication_count": 386, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10025398;10037737;10075701;10198291;10207622;10209034;10339611;10350061;10358769;10366422;10395673;10397733;10424889;10425179;10438935;10543983;10544250;10593924;10605720;10611478;10640428;10646116;10673326;10673366;10677529;10692392;10713152;10744763;10749680;10811134;10818153;10858437;10930463;10936461;10965141;10982388;11007481;11054877;11084047;11100470;11141505;11158588;11160695;11237011;11259413;11278486;11390472;11481325;11518510;11546839;11572855;11695992;11696015;11713259;11964076;11970960;11980922;12134158;12214271;12215529;12225811;12237301;12358597;12391143;12415008;12429738;12456642;12464388;12482908;12496264;12585966;12660731;12682293;12695522;12750860;12754519;12807887;12810700;12820653;12975610;1333888;1376317;1400330;14596610;14681059;14701737;14715956;14718570;14724572;14976204;15026417;15075323;15184403;15194773;15240572;15247219;15296743;15304325;15308668;15330449;15345499;15350224;15383545;1544908;15479743;15564041;15597056;15688067;15695828;15713743;1588291;15899827;15962004;16002701;16051604;16239428;16293224;16336962;16413178;16493581;16581764;16731529;16754661;16760434;16906757;16933105;16945929;16966330;16982628;17030947;17081983;1708799;17158881;17199126;17237347;17253643;17293873;17314405;17324935;17339034;17351642;17483156;17588949;17686471;17925226;17968485;18045938;18222703;18268517;18280240;18331591;18339631;18441324;18469808;18555990;18635536;18669648;18682599;18710925;18775695;19141530;19159218;19217269;19230644;19267251;19349973;19502598;19578119;19704023;19720988;20033473;20068231;2010551;20171863;2059554;20615244;20625381;20658524;20682778;20705068;21445309;21642437;21646718;21789315;22134916;22177953;22278742;22327215;22493504;22539938;22689825;22884367;2295682;23090970;23125415;23216836;23290524;23374253;23479567;2364322;23650620;23658209;23695678;23954936;24011356;2412224;24190977;2420006;2430295;2430969;24367260;2443500;2467745;24942591;25398877;25418920;25502872;25576301;25645385;25880248;25892735;26154972;26375851;26992070;27797339;27846572;27862975;27993971;28117447;28302677;28873464;28904123;29030430;29437277;29493099;29557506;2963012;29741879;30315122;30410026;30429286;30484775;30779550;30833945;31154438;31217245;31222486;31331973;31408443;31530632;31611695;31844290;31848261;31998317;32037480;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32673515;32897882;32938616;32983136;33043033;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34357683;34405274;34509645;34725712;35051231;35154160;35251023;35289036;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37074911;37938771;38016540;38395907;38532364;38588407;38665916;39075581;39197621;39273058;39526957;3997977;40596516;6123066;6193777;6439184;7499434;7500359;7505120;7509446;7519807;7522056;7525578;7527058;7534784;7541634;7542249;7542669;7559467;7678924;7685013;7693660;7693733;7737999;7852349;8002934;8047140;8089108;8118028;8242743;8344274;8388392;8440685;8509458;8560266;8592152;8609172;8617235;8617364;8692836;8798654;8838667;8910476;8943283;8947046;8980228;8986718;9038151;9054388;9099726;9115237;9182576;9233797;9245798;9251239;9252349;9252369;9294172;9311995;9341124;9346959;9346966;9393975;9396761;9398617;9426447;9443892;9472046;9565552;9645947;9685393;9725916;9763615;9774457;9804763;9858236;9865696;9949188", "class_list": "", "function": "(Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Human parechovirus 1., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGAV:ITGB5 acts as a receptor for Adenovirus type C., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGAV:ITGB5 and ITGAV:ITGB3 act as receptors for Coxsackievirus A9 and B1., [UniProtKB, PubMed, PubMed, PubMed]; (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex 1/HHV-1., [UniProtKB, PubMed]; A decrease in integrin alpha5beta1/FAK is associated with increased apoptosis of aortic smooth muscle cells in acute type a aortic dissection. Publication Status: Online-Only, [RefSeq, PubMed]; IGF1R signaling induces epithelial-mesenchymal plasticity via ITGAV in cutaneous carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Integrin alphavbeta3 Upregulation in Response to Nutrient Stress Promotes Lung Cancer Cell Metabolic Plasticity., [RefSeq, PubMed]; Novel prognostic marker TGFBI affects the migration and invasion function of ovarian cancer cells and activates the integrin alphavbeta3-PI3K-Akt signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The Role of alphavbeta3 Integrin in Lamina Cribrosa Cell Mechanotransduction in Glaucoma. Publication Status: Online-Only, [RefSeq, PubMed]; The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 and ITGAV:ITGB6 act as receptors for fibrillin-1 (FBN1) and mediate R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). Integrin alpha-V/beta-6 or alpha-V/beta-8 (ITGAV:ITGB6 or ITGAV:ITGB8) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447). ITGAV:ITGB3 acts as a receptor for CD40LG (PubMed:31331973). ITGAV:ITGB3 acts as a receptor for IBSP and promotes cell adhesion and migration to IBSP (PubMed:10640428)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha V subunit. This subunit associates with beta 1, beta 3, beta 5, beta 6 and beta 8 subunits. The heterodimer consisting of alpha V and beta 3 subunits is also known as the vitronectin receptor. This integrin may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 13, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 11, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 13, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 13, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 17, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 114, "disease_count": 9, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A0AV67;B0LPF4;B7Z883;B7ZLX0;D3DPG8;E7EWZ6;Q53SK4;Q59EB7;Q6LD15", "ec_number_list": [], "go_molecular_function": "GO:1990430 extracellular matrix protein binding;GO:0002020 protease binding;GO:0005178 integrin binding;GO:0015026 coreceptor activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0035867 alphav-beta3 integrin-IGF-1-IGF1R complex;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0051057 positive regulation of small GTPase mediated signal transduction;GO:0010888 negative regulation of lipid storage;GO:0001525 angiogenesis;GO:0001570 vasculogenesis;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 51.5, "record_id": "P06756-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09529-1", "uniprot_id": [ { "id": "INHBB_HUMAN", "url": "https://www.uniprot.org/uniprot/P09529", "type": "external" } ], "mass": 45122.0, "length": 407, "protein_name": "Inhibin beta B chain", "gene_name": "INHBB", "organism": "Human", "refseq_name": "inhibin beta B chain preproprotein", "refseq_ac": [ { "id": "NP_002184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002184", "type": "external" } ], "gene_names_uniprotkb": "INHBB", "gene_names_refseq": "INHBB", "protein_names_uniprotkb": "Inhibin beta B chain; Activin beta-B chain", "protein_names_refseq": "Inhibin, beta-2; activin AB beta polypeptide; activin beta-B chain; inhibin beta B chain preproprotein; inhibin beta B chain; inhibin beta B subunit", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328)", "pathway": " (hsa:3625); (R-HSA-1502540); (R-HSA-209822); (R-HSA-2473224)", "pathway_count": 4, "publication_count": 53, "publication_id_list": "10.1101/2023.09.13.557529;11117535;11459787;1191677;11956142;12697670;15087470;15123686;15196700;1592877;16123088;16140969;16198295;16527410;1688430;17906079;18166170;18768470;18951876;19664995;22611157;23090970;2364091;24190977;24715725;2575216;26992070;2739657;28904123;30429286;30459171;31154438;31217245;31844290;31848261;33968037;35643319;36913138;37116368;3754442;37858201;37996919;38803096;39894887;6774759;7215288;7678220;8033815;8196624;8622651;8721982;9032295;9459292", "class_list": "", "function": "Activin B is a dimer of alpha and beta-B that plays a role in several essential biological processes including embryonic development, stem cell maintenance and differentiation, haematopoiesis, cell proliferation and wound healing (PubMed:22611157, PubMed:15196700). Signals through type I receptor ACVR1C, abundantly expressed in pancreatic beta cells, and type II receptors like ACVR2A or BMPR2 (PubMed:35643319). Upon ligand binding, these receptors phosphorylate intracellular signaling mediators SMAD2 and SMAD3, which form a complex with SMAD4, translocate to the nucleus, and regulate gene expression (PubMed:15196700). Plays a crucial role in the induction of hepcidin by inflammation through activation of ACVR1C and subsequent phosphorylation of SMAD1/5/8 (PubMed:22611157). Regulates adipocyte lipid metabolism by decreasing non-esterified fatty acids and glycerol release and increases intracellular triglyceride content (By similarity). Stimulates wound healing by promoting cell migration and hair follicle regeneration through the JNK and ERK signaling pathways downstream of RHOA (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Basal and FSH-stimulated Inhibin B in Precocious Puberty., [RefSeq, PubMed]; Dose inhibin B or anti-Mullerian hormone relate to precocious puberty in girls? result of a systematic review and meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulated INHBB in endometrial tissue of recurrent implantation failure patients impeded decidualization through the ADCY1/cAMP signalling pathway., [RefSeq, PubMed]; INHBB promotes tumor aggressiveness and stemness of glioblastoma via activating EGFR signaling., [RefSeq, PubMed]; Inhibin B is a dimer of alpha and beta-B that plays a crucial role in the regulation of the reproductive system by inhibiting the secretion of follicle-stimulating hormone (FSH) from the anterior pituitary gland. Thereby, maintains reproductive homeostasis in both males and females. Acts as a more potent suppressor of FSH release than inhibin A (By similarity). Functions as competitive receptor antagonist binding activin type II receptors with high affinity in the presence of the TGF-beta type III coreceptor/TGFBR3L (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins., [UniProtKB]; Paracrine activin B-NF-kappaB signaling shapes an inflammatory tumor microenvironment in gastric cancer via fibroblast reprogramming. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. Polymorphisms near this gene are associated with pre-eclampsia in female human patients. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q53T31;Q8N1D3", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0005125 cytokine activity;GO:0005179 hormone activity;GO:0008083 growth factor activity;GO:0046789 host cell surface receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0048471 perinuclear region of cytoplasm;GO:0071944 cell periphery", "go_biological_process": "GO:0046882 negative regulation of follicle-stimulating hormone secretion;GO:0060279 positive regulation of ovulation;GO:0006952 defense response;GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "P09529-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7L1-1", "uniprot_id": [ { "id": "ISK8_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7L1", "type": "external" } ], "mass": 10821.0, "length": 97, "protein_name": "Serine protease inhibitor Kazal-type 8", "gene_name": "SPINK8", "organism": "Human", "refseq_name": "serine protease inhibitor Kazal-type 8 precursor", "refseq_ac": [ { "id": "NP_001073994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073994", "type": "external" } ], "gene_names_uniprotkb": "SPINK8", "gene_names_refseq": "SPINK8", "protein_names_uniprotkb": "Serine protease inhibitor Kazal-type 8", "protein_names_refseq": "serine protease inhibitor Kazal-type 8 precursor; serine protease inhibitor Kazal-type 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:646424)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Probable serine protease inhibitor., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0C7L1-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53708-1", "uniprot_id": [ { "id": "ITA8_HUMAN", "url": "https://www.uniprot.org/uniprot/P53708", "type": "external" } ], "mass": 117474.0, "length": 1063, "protein_name": "Integrin alpha-8", "gene_name": "ITGA8", "organism": "Human", "refseq_name": "integrin alpha-8 isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_003629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003629", "type": "external" } ], "gene_names_uniprotkb": "ITGA8", "gene_names_refseq": "ITGA8", "protein_names_uniprotkb": "Integrin alpha-8", "protein_names_refseq": "integrin alpha-8 isoform 1 preproprotein; integrin, alpha 8", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059); renal agenesis (Disease Ontology:DOID:14766); ovarian cancer (Disease Ontology:DOID:2394); mesangial proliferative glomerulonephritis (Disease Ontology:DOID:4783); schizophrenia (Disease Ontology:DOID:5419); end stage renal disease (Disease Ontology:DOID:783); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:8516); (R-HSA-2129379); (R-HSA-216083); (R-HSA-2173789); (R-HSA-3000178); (R-HSA-9830674)", "pathway_count": 6, "publication_count": 160, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10025398;10209034;10339611;10366422;10424889;10438935;10504498;10543983;10544250;10593924;10605720;10640428;10646116;10673326;10673366;10713152;10811134;10930463;10982388;11084047;11100470;11141505;11158588;11259413;11390472;11518510;11572855;11713259;11970960;11980922;12225811;12358597;12415008;12429738;12482908;12496264;12585966;12682293;12807887;1333888;1376317;1400330;14701737;14715956;15075323;15240572;15296743;15330449;15345499;15350224;15383545;1544908;15564041;15579315;15713743;15721307;1588291;15899827;16002701;16051604;16239428;16293224;16493581;16731529;16754661;16933105;1708799;17324935;17339034;17588949;17968485;18339631;18469808;18710925;18775695;19502598;19720988;20033473;2010551;2059554;20625381;20705068;21642437;21646718;21789315;22134916;22539938;22884367;23290524;23374253;2364322;2412224;2420006;2430969;24439109;29242379;29351928;29557506;29786170;32157095;33141586;33392160;35051231;35318648;35580925;36089563;36215666;36911684;37074911;37119505;38755265;39064873;6193777;6439184;7499434;7500359;7505120;7525578;7527058;7534784;7541634;7542249;7542669;7559467;7685013;7693660;7693733;7737999;7768999;7852349;8002934;8047140;8118028;8242743;8344274;8440685;8560266;8798654;8838667;8910476;8943283;8947046;8980228;9233797;9251239;9252349;9294172;9311995;9341124;9346959;9346966;9443892;9565552;9685393;9725916;9858236;9865696;9949188", "class_list": "", "function": "Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology., [RefSeq, PubMed]; Expression Profiles of ITGA8 and VANGL2 Are Altered in Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). Publication Status: Online-Only, [RefSeq, PubMed]; Hypermethylated ITGA8 Facilitate Bladder Cancer Cell Proliferation and Metastasis., [RefSeq, PubMed]; Integrin alpha-8/beta-1 functions in the genesis of kidney and probably of other organs by regulating the recruitment of mesenchymal cells into epithelial structures. It recognizes the sequence R-G-D in a wide array of ligands including TNC, FN1, SPP1 TGFB1, TGFB3 and VTN. NPNT is probably its functional ligand in kidney genesis. Neuronal receptor for TNC it mediates cell-cell interactions and regulates neurite outgrowth of sensory and motor neurons., [UniProtKB, PubMed, PubMed]; Integrins are heterodimeric transmembrane receptor proteins that mediate numerous cellular processes including cell adhesion, cytoskeletal rearrangement, and activation of cell signaling pathways. Integrins are composed of alpha and beta subunits. This gene encodes the alpha 8 subunit of the heterodimeric integrin alpha8beta1 protein. The encoded protein is a single-pass type 1 membrane protein that contains multiple FG-GAP repeats. This repeat is predicted to fold into a beta propeller structure. This gene regulates the recruitment of mesenchymal cells into epithelial structures, mediates cell-cell interactions, and regulates neurite outgrowth of sensory and motor neurons. The integrin alpha8beta1 protein thus plays an important role in wound-healing and organogenesis. Mutations in this gene have been associated with renal hypodysplasia/aplasia-1 (RHDA1) and with several animal models of chronic kidney disease. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014]., [RefSeq]; LINC01798/miR-17-5p axis regulates ITGA8 and causes changes in tumor microenvironment and stemness in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; M2 macrophage-derived exosomal circTMCO3 acts through miR-515-5p and ITGA8 to enhance malignancy in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 10, "predicted_n_glycosites": 10, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 87, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 7, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ31;Q5VX94", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0045177 apical part of cell", "go_biological_process": "GO:0007229 integrin-mediated signaling pathway;GO:0007399 nervous system development;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0001822 kidney development;GO:0007160 cell-matrix adhesion", "synthesized_glycan_count": 0, "hit_score": 18.2, "record_id": "P53708-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13349-1", "uniprot_id": [ { "id": "ITAD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13349", "type": "external" } ], "mass": 126758.0, "length": 1161, "protein_name": "Integrin alpha-D", "gene_name": "ITGAD", "organism": "Human", "refseq_name": "integrin alpha-D isoform 1 precursor", "refseq_ac": [ { "id": "NP_001305114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305114", "type": "external" } ], "gene_names_uniprotkb": "ITGAD", "gene_names_refseq": "ADB2; CD11D; ITGAD", "protein_names_uniprotkb": "Integrin alpha-D; ADB2; CD11 antigen-like family member D; Leukointegrin alpha D", "protein_names_refseq": "CD11 antigen-like family member D; beta-2 integrin alphaD subunit; integrin alpha-D isoform 1 precursor; leukointegrin alpha D", "tax_id": 9606, "disease": "lung adenocarcinoma (Disease Ontology:DOID:3910)", "pathway": " (hsa:3681); (R-HSA-216083)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10209034;10366422;10438935;10543983;10593924;10605720;10640428;10673366;10713152;10722744;10811134;10982388;11158588;11518510;11572855;11713259;11980922;12496264;12585966;12682293;12807887;15240572;15330449;15345499;15383545;15713743;1588291;15899827;16002701;16051604;16239428;16731529;16754661;16933105;17339034;17968485;18710925;18775695;19502598;20033473;2010551;20705068;22539938;22884367;23374253;23719902;24190977;24714562;24715725;25415295;26992070;27862975;27881604;28500072;28832583;29242379;29557506;32387766;33298915;33912179;34171305;35038314;35051231;35580925;36010968;40914422;7505120;7525578;7541634;7542249;7559467;7685013;8118028;8344274;8560266;8666289;8777714;8798654;8838667;8910476;9251239;9443892;9565552;9841932;9858236", "class_list": "", "function": "Alpha(D)beta(2) is a major member of the integrin repertoire of both circulating and tissue myeloid leukocytes in humans Publication Status: Online-Only, [RefSeq, PubMed]; Findings suggest that CD11d/CD18 upregulation on proinflammatory macrophages may represent a common mechanism for macrophage retention at inflammatory sites, thereby promoting chronic inflammation and disease development., [RefSeq, PubMed]; Integrin alpha-D/beta-2 is a receptor for ICAM3 and VCAM1 (PubMed:10438935, PubMed:8777714, PubMed:9841932). May play a role in the atherosclerotic process such as clearing lipoproteins from plaques and in phagocytosis of blood-borne pathogens, particulate matter, and senescent erythrocytes from the blood (Probable)., [UniProtKB, PubMed, PubMed, PubMed]; LINC02190 inhibits the embryo-endometrial attachment by decreasing ITGAD expression. Publication Status: Online-Only, [RefSeq, PubMed]; These results expand the potential for CD11d to regulate lymphocyte migration and tissue retention, and illuminate the possibility of a previously unconsidered role for CD11d in leukocyte biology and disease., [RefSeq, PubMed]; This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 8, "predicted_n_glycosites": 8, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 84, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q15575;Q15576", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0008305 integrin complex;GO:0034690 integrin alphaD-beta2 complex", "go_biological_process": "GO:0006955 immune response;GO:0007229 integrin-mediated signaling pathway;GO:0033631 cell-cell adhesion mediated by integrin;GO:0098609 cell-cell adhesion;GO:0034113 heterotypic cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q13349-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H160-1", "uniprot_id": [ { "id": "ING2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H160", "type": "external" } ], "mass": 32808.0, "length": 280, "protein_name": "Inhibitor of growth protein 2", "gene_name": "ING2", "organism": "Human", "refseq_name": "inhibitor of growth protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001278888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278888", "type": "external" } ], "gene_names_uniprotkb": "ING2; ING1L", "gene_names_refseq": "ING1Lp; ING1L; ING2; p33ING2", "protein_names_uniprotkb": "Inhibitor of growth protein 2; ING1Lp; Inhibitor of growth 1-like protein; p32; p33ING2", "protein_names_refseq": "inhibitor of growth 1-like protein; inhibitor of growth protein 2 isoform 2; inhibitor of growth protein 2", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); carcinoma (Disease Ontology:DOID:305)", "pathway": " (hsa:3622); (R-HSA-3899300); (R-HSA-6811555)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10072587;10698683;11237011;11477070;11481424;11784859;11842083;12150977;12529333;12679040;12718889;12859901;15766567;15958389;15976810;16024799;16098147;16387653;16728974;16757475;16893883;16949365;17079232;17081986;17298944;17369852;17535915;17803295;17940011;17942393;18082607;18211901;18339323;18488044;18951897;19240082;19596686;19615980;19995069;20068231;20098713;20176810;20583997;20676127;21338522;21527249;22467880;22713328;23193159;23404503;23673342;25114211;25218447;25576301;25800734;28832583;31180538;31217245;31530632;31844290;31848261;32015217;32157095;32161166;32357974;32424454;32983136;33717175;33968037;34017078;34019948;36581221", "class_list": "", "function": "Findings provide evidence that ING2 is a direct target of miR92a., [RefSeq, PubMed]; ING2 tumor suppressive protein translocates into mitochondria and is involved in cellular metabolism homeostasis., [RefSeq, PubMed]; Inhibitor of growth 2 regulates the high glucose-induced cell cycle arrest and epithelial-to-mesenchymal transition in renal proximal tubular cells. Erratum:[J Physiol Biochem. 2020 Aug;76(3):483. doi: 10.1007/s13105-020-00752-2. PMID: 32562166], [RefSeq, PubMed]; Integrated analysis of DNA methylation and mRNA expression profiles to identify key genes involved in the regrowth of clinically non-functioning pituitary adenoma., [RefSeq, PubMed]; P33ING2/ING1L is a DNA damage-inducible gene that negatively regulates cell proliferation through activation of p53 by enhancing its acetylation., [RefSeq, PubMed]; Seems to be involved in p53/TP53 activation and p53/TP53-dependent apoptotic pathways, probably by enhancing acetylation of p53/TP53. Component of a mSin3A-like corepressor complex, which is probably involved in deacetylation of nucleosomal histones. ING2 activity seems to be modulated by binding to phosphoinositides (PtdInsPs)., [UniProtKB, PubMed, PubMed]; This gene is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B6ZDS1;O95698", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0044877 protein-containing complex binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0070822 Sin3-type complex;GO:0016602 CCAAT-binding factor complex", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:1902455 negative regulation of stem cell population maintenance;GO:0048133 male germ-line stem cell asymmetric division;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9H160-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP60-1", "uniprot_id": [ { "id": "IRPL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP60", "type": "external" } ], "mass": 78670.0, "length": 686, "protein_name": "X-linked interleukin-1 receptor accessory protein-like 2", "gene_name": "IL1RAPL2", "organism": "Human", "refseq_name": "X-linked interleukin-1 receptor accessory protein-like 2 precursor", "refseq_ac": [ { "id": "NP_059112", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059112", "type": "external" } ], "gene_names_uniprotkb": "IL1RAPL2; IL1R9", "gene_names_refseq": "IL-1R9; IL1R9; IL1RAPL-2; IL1RAPL2; TIGIRR-1", "protein_names_uniprotkb": "X-linked interleukin-1 receptor accessory protein-like 2; 3.2.2.6; IL-1 receptor accessory protein-like 2; IL-1-RAPL-2; IL-1R-9; IL-1R9; IL-1RAPL-2; IL1RAPL-2-related protein; IL1RAPL-2; Interleukin-1 receptor 9; TIGIRR-1; Three immunoglobulin domain-containing IL-1 receptor-related 1", "protein_names_refseq": "IL-1 receptor accessory protein-like 2; IL-1R-9; IL1RAPL-2-related protein; X-linked interleukin-1 receptor accessory protein-like 2 precursor; X-linked interleukin-1 receptor accessory protein-like 2; interleukin 1 receptor 9; three immunoglobulin domain-containing IL-1 receptor-related 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26280); (R-HSA-388844)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10757639;10882729;11031108;11587848;15750591;16596202;16959974;19252495;20139422;20230923;20237496;21262467;21384559;21940441;22286174;22357843;23345436;24715725;25385546;25892735;25908590;29557506;32387766;33968037;35038778;7796809;9624153", "class_list": "", "function": "A total of six novel and 11 known single nucleotide polymorphisms were identified. Further studies are warranted to analyze the candidate genes at Xq11.1-q21.33., [RefSeq, PubMed]; Crystal structure of the Toll/interleukin-1 receptor (TIR) domain of IL-1R10 provides structural insights into TIR domain signalling., [RefSeq, PubMed]; Increased circulating levels of IL-1 accessory protein is associated with Hepatitis C virus positive patients, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a member of the interleukin 1 receptor family. This protein is similar to the interleukin 1 accessory proteins, and is most closely related to interleukin 1 receptor accessory protein-like 1 (IL1RAPL1). This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-linked non-syndromic cognitive disability. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q2M3U3;Q9NZN0", "ec_number_list": [ { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.4.99.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.20", "type": "external" }, { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" } ], "go_molecular_function": "GO:0004908 interleukin-1 receptor activity;GO:0004910 interleukin-1, type II, blocking receptor activity;GO:0061809 NAD+ nucleosidase activity, cyclic ADP-ribose generating", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007417 central nervous system development;GO:1905606 regulation of presynapse assembly", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9NP60-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKX5-1", "uniprot_id": [ { "id": "ITA11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKX5", "type": "external" } ], "mass": 133470.0, "length": 1188, "protein_name": "Integrin alpha-11", "gene_name": "ITGA11", "organism": "Human", "refseq_name": "integrin alpha-11 precursor", "refseq_ac": [ { "id": "NP_001004439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004439", "type": "external" } ], "gene_names_uniprotkb": "ITGA11; MSTP018", "gene_names_refseq": "HsT18964; ITGA11", "protein_names_uniprotkb": "Integrin alpha-11", "protein_names_refseq": "integrin alpha-11 precursor; integrin alpha-11", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793)", "pathway": " (hsa:22801); (R-HSA-216083)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "37268159;10209034;10366422;10438935;10464311;10486209;10543983;10593924;10605720;10640428;10673366;10713152;10811134;10982388;11158588;11518510;11572855;11713259;11980922;12392762;12496264;12585966;12682293;12807887;15240572;15330449;15345499;15383545;15713743;1588291;15899827;16002701;16051604;16239428;16731529;16754661;16754960;16933105;17339034;17968485;18710925;18775695;19159218;19502598;20033473;2010551;20112406;20705068;22539938;22884367;23374253;23481700;25576301;25645385;27846572;27862975;29242379;29393594;29557506;29786170;29789417;30429286;31154438;31222486;31844290;31848261;32157095;32161166;32387766;32938616;33174014;33592498;33682233;33968037;34171305;34185709;34509645;34802381;35051231;35580925;36010968;36215666;36241641;37074911;38295227;38428409;38665916;7505120;7525578;7541634;7542249;7559467;7685013;8118028;8344274;8560266;8798654;8838667;8910476;9251239;9443892;9565552;9858236", "class_list": "", "function": "Cancer-associated fibroblast migration in non-small cell lung cancers is modulated by increased integrin alpha11 expression., [RefSeq, PubMed]; Inhibition of integrin subunit alpha 11 restrains gastric cancer progression through phosphatidylinositol 3-kinase/Akt pathway., [RefSeq, PubMed]; Integrin alpha-11/beta-1 is a receptor for collagen., [UniProtKB]; Long noncoding RNA FEZF1AS1 facilitates nonsmall cell lung cancer progression via the ITGA11/miR516b5p axis., [RefSeq, PubMed]; Major transcription start site mapped. A core promoter [nt (-)127-(+)25], a potential silencer region [nt (-)400-(-)127] and a potential enhancer region [nt (-)1519-(-)400] identified as important for alpha11 transcription in mesenchymal cells., [RefSeq, PubMed]; Osteosarcoma Cells Secrete CXCL14 That Activates Integrin alpha11beta1 on Fibroblasts to Form a Lung Metastatic Niche., [RefSeq, PubMed]; PDGFRalpha[+]ITGA11[+] fibroblasts foster early-stage cancer lymphovascular invasion and lymphatic metastasis via ITGA11-SELE interplay., [RefSeq, PubMed]; This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 11, "predicted_n_glycosites": 11, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 1, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "J3KQM2;Q8WYI8;Q9UKQ1", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005518 collagen binding;GO:0038023 signaling receptor activity;GO:0038064 collagen receptor activity;GO:0098639 collagen binding involved in cell-matrix adhesion", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0016020 membrane;GO:0008305 integrin complex", "go_biological_process": "GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway;GO:0007160 cell-matrix adhesion;GO:0033627 cell adhesion mediated by integrin;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "Q9UKX5-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01650-1", "uniprot_id": [ { "id": "LAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01650", "type": "external" } ], "mass": 55010.0, "length": 507, "protein_name": "Large neutral amino acids transporter small subunit 1", "gene_name": "SLC7A5", "organism": "Human", "refseq_name": "large neutral amino acids transporter small subunit 1", "refseq_ac": [ { "id": "NP_003477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003477", "type": "external" } ], "gene_names_uniprotkb": "SLC7A5; CD98LC; LAT1; MPE16", "gene_names_refseq": "4F2LC; CD98; D16S469E; E16; LAT1; MPE16; SLC7A5", "protein_names_uniprotkb": "Large neutral amino acids transporter small subunit 1; 4F2 LC; 4F2 light chain; 4F2LC; CD98 light chain; E16; Integral membrane protein E16; L-type amino acid transporter 1; Solute carrier family 7 member 5; hLAT1; y+ system cationic amino acid transporter", "protein_names_refseq": "4F2 light chain; CD98 light chain; L-type amino acid transporter 1; integral membrane protein E16; large neutral amino acids transporter small subunit 1; sodium-independent neutral amino acid transporter LAT1; solute carrier family 7 (amino acid transporter light chain, L system), member 5; solute carrier family 7 (cationic amino acid transporter, y+ system), member 5", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); large cell neuroendocrine carcinoma (Disease Ontology:DOID:0050872); autism spectrum disorder (Disease Ontology:DOID:0060041); adenoid cystic carcinoma (Disease Ontology:DOID:0080202); lung pleomorphic carcinoma (Disease Ontology:DOID:0080899); stomach cancer (Disease Ontology:DOID:10534); esophageal carcinoma (Disease Ontology:DOID:1107); esophagitis (Disease Ontology:DOID:11963); rectum adenocarcinoma (Disease Ontology:DOID:1996); colon cancer (Disease Ontology:DOID:219); transitional cell carcinoma (Disease Ontology:DOID:2671); glioblastoma (Disease Ontology:DOID:3068); malignant astrocytoma (Disease Ontology:DOID:3069); high grade glioma (Disease Ontology:DOID:3070); extrahepatic bile duct adenocarcinoma (Disease Ontology:DOID:3495); gastric adenocarcinoma (Disease Ontology:DOID:3717); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); bile duct adenocarcinoma (Disease Ontology:DOID:4896); bile duct carcinoma (Disease Ontology:DOID:4897); cholangiocarcinoma (Disease Ontology:DOID:4947); hepatocellular carcinoma (Disease Ontology:DOID:684); malignant pleural mesothelioma (Disease Ontology:DOID:7474); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:8140); (R-HSA-210991); (R-HSA-352230); (R-HSA-71240)", "pathway_count": 4, "publication_count": 168, "publication_id_list": "10049700;10072483;10358010;10391915;10485994;10574970;10672018;10698697;10823827;10863037;10880960;10891391;10903140;10921872;10930503;11237011;11243884;11278508;11318953;11342143;11389679;11417227;11557028;11564694;11591158;11719518;11742812;11827462;11943775;12007602;12117417;12140278;12202949;12225859;12527723;12558975;12809675;12824232;12930836;13069505;14707126;15151999;15302935;15364907;15659399;15769744;15880762;15901826;15918515;15946952;1597461;16027961;16260747;16376499;16477023;16496379;17671174;17996943;18056995;18195088;18262359;18369606;18452278;18620547;18669648;18691976;19338303;19369195;19651622;19664994;20068231;21097500;21406692;22898188;23186163;23478338;23481700;24652292;25502872;25576301;25645385;25998567;26154972;26305885;26992070;27600516;27920218;28218747;28228285;28467828;28514659;28832583;28871256;28904123;29242379;29314611;29393594;29437277;29557506;29769354;29789417;30341327;30444036;30484775;30573663;30626607;30779550;30833945;30867591;31154438;31217245;31611695;31844290;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32938616;32983136;33043033;33214551;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34725712;35051231;35154160;35251023;35561310;36215666;36241641;36581221;37938771;38661522;38665916;39179631;39234254;39270820;39304904;41018975;7514594;7589472;7883047;8010975;8101838;8294935;8340364;8666386;8702519;8910405;9174363;9180257;9360995;9751058;9878049", "class_list": "", "function": "(Microbial infection) In case of hepatitis C virus/HCV infection, the complex formed by SLC3A2 and SLC7A5/LAT1 plays a role in HCV propagation by facilitating viral entry into host cell and increasing L-leucine uptake-mediated mTORC1 signaling activation, thereby contributing to HCV-mediated pathogenesis., [UniProtKB, PubMed]; LAT1 expression in colorectal cancer cells is unresponsive to HIF-1/2alpha accumulation under experimental hypoxia. Publication Status: Online-Only, [RefSeq, PubMed]; LAT1 supports mitotic progression through Golgi unlinking in an amino acid transport activity-independent manner., [RefSeq, PubMed]; TP63 transcriptionally regulates SLC7A5 to suppress ferroptosis in head and neck squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM35 triggers cardiac remodeling by regulating SLC7A5-mediated amino acid transport and mTORC1 activation in fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; The heterodimer with SLC3A2 functions as a sodium-independent, high-affinity transporter that mediates uptake of large neutral amino acids such as phenylalanine, tyrosine, leucine, histidine, methionine, tryptophan, valine, isoleucine and alanine (PubMed:10049700, PubMed:10574970, PubMed:11557028, PubMed:11564694, PubMed:12117417, PubMed:12225859, PubMed:15769744, PubMed:18262359, PubMed:25998567, PubMed:30867591, PubMed:9751058, PubMed:26305885). The heterodimer with SLC3A2 mediates the uptake of L-DOPA (By similarity). Functions as an amino acid exchanger (PubMed:11557028, PubMed:12117417, PubMed:12225859, PubMed:30867591). May play a role in the transport of L-DOPA across the blood-brain barrier (By similarity). May act as the major transporter of tyrosine in fibroblasts (Probable). May mediate blood-to-retina L-leucine transport across the inner blood-retinal barrier (By similarity). Can mediate the transport of thyroid hormones diiodothyronine (T2), triiodothyronine (T3) and thyroxine (T4) across the cell membrane (PubMed:11564694, PubMed:26305885). When associated with LAPTM4B, the heterodimer formed by SLC3A2 and SLC7A5 is recruited to lysosomes to promote leucine uptake into these organelles, and thereby mediates mTORC1 activation (PubMed:25998567). Involved in the uptake of toxic methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes (PubMed:12117417). Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the membrane (PubMed:15769744). Mediates the uptake of 3-iodo-L-tyrosine (MIT) (PubMed:26305885). Mediates the uptake of 3,5-diiodo-L-tyrosine (DIT) (PubMed:38661522)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 28, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8IV97;Q9UBN8;Q9UP15;Q9UQC0", "ec_number_list": [], "go_molecular_function": "GO:0015179 L-amino acid transmembrane transporter activity;GO:0015196 L-tryptophan transmembrane transporter activity;GO:0042605 peptide antigen binding;GO:0015171 amino acid transmembrane transporter activity;GO:0015175 neutral L-amino acid transmembrane transporter activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0060252 positive regulation of glial cell proliferation;GO:0032740 positive regulation of interleukin-17 production;GO:0015820 L-leucine transport;GO:0015824 proline transport;GO:0032328 alanine transport", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "Q01650-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D1U4-1", "uniprot_id": [ { "id": "DEN11_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D1U4", "type": "external" } ], "mass": 51446.0, "length": 455, "protein_name": "DENN domain-containing protein 11", "gene_name": "DENND11", "organism": "Human", "refseq_name": "DENN domain-containing protein 11", "refseq_ac": [ { "id": "NP_001073861", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073861", "type": "external" } ], "gene_names_uniprotkb": "DENND11; KIAA1147; LCHN", "gene_names_refseq": "DENND11; KIAA1147; LCHN; PRO2561", "protein_names_uniprotkb": "DENN domain-containing protein 11; DENND11; Protein LCHN", "protein_names_refseq": "DENN domain-containing protein 11; predicted protein of HQ2561; protein LCHN", "tax_id": 9606, "disease": "", "pathway": " (hsa:57189)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;22424782;22544926;23481700;24129315;24715725;25489052;25576301;25880248;26154972;26375851;26992070;28218747;28228285;28467828;28832583;28834231;28904123;29242379;29437277;29786170;31844290;31937595;31998317;32157095;32350084;32357974;32502341;32938616;33141586;33298915;33592498;33717175;33968037;34211107;34357683;34433824;34932366;35154160;35580925;36010968;37938771", "class_list": "", "function": "Probable guanine nucleotide exchange factor (GEF). May promote the exchange of GDP to GTP, converting inactive GDP-bound small GTPases into their active GTP-bound form (Probable). May play a role in neuritogenesis, as well as in neuronal recovery and/or restructuring in the hippocampus following transient cerebral ischemia (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9ULS3", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "A4D1U4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62502-1", "uniprot_id": [ { "id": "LCN6_HUMAN", "url": "https://www.uniprot.org/uniprot/P62502", "type": "external" } ], "mass": 18045.0, "length": 163, "protein_name": "Epididymal-specific lipocalin-6", "gene_name": "LCN6", "organism": "Human", "refseq_name": "epididymal-specific lipocalin-6 precursor", "refseq_ac": [ { "id": "NP_945184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945184", "type": "external" } ], "gene_names_uniprotkb": "LCN6; LCN5; PRO1273", "gene_names_refseq": "LCN5; LCN6; UNQ643; hLcn5", "protein_names_uniprotkb": "Epididymal-specific lipocalin-6; Lipocalin-5", "protein_names_refseq": "epididymal-specific lipocalin LCN6; epididymal-specific lipocalin-6 precursor; epididymal-specific lipocalin-6; epididymis secretory sperm binding protein; lipocalin 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:158062)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;12975309;14617364;15363845;29053426;32502341;35580925", "class_list": "", "function": "Anti-hLCN6 Monoclonal Antibody., [RefSeq, PubMed]; May play a role in male fertility., [UniProtKB]; Predominant expression in the epididymis and location on sperm surface are consistent with a role for LCN6 in male fertility Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0QZ80;Q71SF6", "ec_number_list": [], "go_molecular_function": "GO:0036094 small molecule binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0007338 single fertilization", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P62502-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47929-1", "uniprot_id": [ { "id": "LEG7_HUMAN", "url": "https://www.uniprot.org/uniprot/P47929", "type": "external" } ], "mass": 15075.0, "length": 136, "protein_name": "Galectin-7", "gene_name": "LGALS7B; LGALS7", "organism": "Human", "refseq_name": "galectin-7", "refseq_ac": [ { "id": "NP_001035972", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035972", "type": "external" } ], "gene_names_uniprotkb": "LGALS7B; LGALS7; PIG1", "gene_names_refseq": "HKL-14; LGALS7B; PI7", "protein_names_uniprotkb": "Galectin-7; Gal-7; HKL-14; PI7; p53-induced gene 1 protein", "protein_names_refseq": "galectin-7; keratinocyte lectin 14; lectin, galactoside-binding, soluble, 7B; p53-induced gene 1 protein; p53-induced protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3963); (hsa:653499); (R-HSA-9725554)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "11237011;11706006;12067728;12624109;13679866;15140226;15234001;15489334;15556625;15675955;15780751;16297201;17330888;18315601;19199708;19924134;22059385;22735594;23283814;23629652;24534543;24794495;25367374;25945972;26340985;27416897;28218747;29437277;29557506;30397120;30833945;30905808;31154438;31399284;32296183;32809817;32915505;33409472;34078123;34171305;34673030;34795863;36293173;38665916;7534301;7729568;9760227", "class_list": "glycogene", "function": "An association was seen between the level of presence of galectins-1 and -7 and neoplastic progression of hypopharyngeal and laryngeal squamous cell carcinomas., [RefSeq, PubMed]; Could be involved in cell-cell and/or cell-matrix interactions necessary for normal growth control. Pro-apoptotic protein that functions intracellularly upstream of JNK activation and cytochrome c release., [UniProtKB, PubMed]; Serum concentration was significantly elevated in women (weeks 10-12 and 17-20) who subsequently developed pre-eclampsia, [RefSeq, PubMed]; The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridization studies indicate that this lectin is specifically expressed in keratinocytes and found mainly in stratified squamous epithelium. A duplicate copy of this gene (GeneID:3963) is found adjacent to, but on the opposite strand on chromosome 19. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 183, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6IB87", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006915 apoptotic process;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "P47929-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00292-1", "uniprot_id": [ { "id": "LFTY2_HUMAN", "url": "https://www.uniprot.org/uniprot/O00292", "type": "external" } ], "mass": 40920.0, "length": 366, "protein_name": "Left-right determination factor 2", "gene_name": "LEFTY2", "organism": "Human", "refseq_name": "left-right determination factor 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001165896", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165896", "type": "external" } ], "gene_names_uniprotkb": "LEFTY2; EBAF; LEFTA; LEFTYA; PSEC0024; TGFB4", "gene_names_refseq": "EBAF; LEFTA; LEFTY2; LEFTYA; TGFB4", "protein_names_uniprotkb": "Left-right determination factor 2; Endometrial bleeding-associated factor; Left-right determination factor A; Protein lefty-2; Protein lefty-A; TGF-beta-4; Transforming growth factor beta-4", "protein_names_refseq": "TGF-beta-4; endometrial bleeding-associated factor; left-right determination factor 2 isoform 2 precursor; left-right determination factor A; protein lefty-2; protein lefty-A; transforming growth factor beta-4", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); biliary tract benign neoplasm (Disease Ontology:DOID:0050625); obstructive sleep apnea (Disease Ontology:DOID:0050848); autosomal dominant tubulointerstitial kidney disease 2 (Disease Ontology:DOID:0061118); dry eye syndrome (Disease Ontology:DOID:10140); prostate cancer (Disease Ontology:DOID:10283); otitis media (Disease Ontology:DOID:10754); urinary bladder cancer (Disease Ontology:DOID:11054); allergic conjunctivitis (Disease Ontology:DOID:11204); pneumocystosis (Disease Ontology:DOID:11339); adult respiratory distress syndrome (Disease Ontology:DOID:11394); heart disease (Disease Ontology:DOID:114); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); pulmonary sarcoidosis (Disease Ontology:DOID:13406); bird fancier's lung (Disease Ontology:DOID:13891); cystic fibrosis (Disease Ontology:DOID:1485); breast cancer (Disease Ontology:DOID:1612); congenital heart disease (Disease Ontology:DOID:1682); pancreatic cancer (Disease Ontology:DOID:1793); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); mucinous adenocarcinoma (Disease Ontology:DOID:3030); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); breast adenocarcinoma (Disease Ontology:DOID:3458); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); lung adenocarcinoma (Disease Ontology:DOID:3910); systemic scleroderma (Disease Ontology:DOID:418); renal cell carcinoma (Disease Ontology:DOID:4450); allergic rhinitis (Disease Ontology:DOID:4481); common bile duct neoplasm (Disease Ontology:DOID:4608); cholangiocarcinoma (Disease Ontology:DOID:4947); pneumonia (Disease Ontology:DOID:552); lung disease (Disease Ontology:DOID:850); measles (Disease Ontology:DOID:8622)", "pathway": " (hsa:7044); (R-HSA-114608); (R-HSA-1181150); (R-HSA-1433617)", "pathway_count": 4, "publication_count": 51, "publication_id_list": "10053005;10067895;10473623;10822381;10934479;11024047;11294908;11389842;11485994;11779503;11779505;12063393;12592392;1435334;14630798;14978253;15062104;15150278;15297306;15350224;15485907;15531507;16260601;16303743;17272273;19114992;20694664;21356369;21383881;21532621;23640497;25603319;29557506;30575724;32236143;32350084;32745796;33111989;34185709;35251023;35494241;37097539;6457647;8467233;8878477;9153275;9230066;9288972;9311995;9670020;9702198", "class_list": "", "function": "Association of maternal hypertension and diabetes with variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital heart defects: a case-control study from Pakistani Population., [RefSeq, PubMed]; Findings show that the TGFB4 (ebaf) mRNA has distinct tumor specific expression Publication Status: Online-Only, [RefSeq, PubMed]; In a reaction-diffusion pattern, the effective range of Nodal is 3.5 times narrower than that of Lefty2. Publication Status: Online-Only, [RefSeq, PubMed]; LEFTY2 alleviates hepatic stellate cell activation and liver fibrosis by regulating the TGF-beta1/Smad3 pathway., [RefSeq, PubMed]; Required for left-right (L-R) asymmetry determination of organ systems in mammals. May play a role in endometrial bleeding., [UniProtKB]; Requirements of LEFTY and Nodal overexpression for tumor cell survival under hypoxia in glioblastoma., [RefSeq, PubMed]; The present study demonstrates a novel role of LEFTY2 in up-regulating transcript levels and protein abundance of the Na+ coupled glucose transporter SGLT1, thus stimulating cellular glucose uptake and cellular formation of glycogen in endometrial cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. This gene is closely linked to both a related family member and a related pseudogene. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 35, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KNH4;B4E332;E9PDM4;O75611;Q5TE89;Q8NBQ9", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0005160 transforming growth factor beta receptor binding;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0031093 platelet alpha granule lumen", "go_biological_process": "GO:0030509 BMP signaling pathway;GO:0009948 anterior/posterior axis specification", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "O00292-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75473-1", "uniprot_id": [ { "id": "LGR5_HUMAN", "url": "https://www.uniprot.org/uniprot/O75473", "type": "external" } ], "mass": 99998.0, "length": 907, "protein_name": "Leucine-rich repeat-containing G protein-coupled receptor 5", "gene_name": "LGR5", "organism": "Human", "refseq_name": "leucine-rich repeat-containing G-protein coupled receptor 5 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001264155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264155", "type": "external" } ], "gene_names_uniprotkb": "LGR5; GPR49; GPR67", "gene_names_refseq": "FEX; GPR49; GPR67; GRP49; HG38; LGR5", "protein_names_uniprotkb": "Leucine-rich repeat-containing G protein-coupled receptor 5; G protein-coupled receptor 49; G protein-coupled receptor 67; G protein-coupled receptor HG38", "protein_names_refseq": "G-protein coupled receptor 49; G-protein coupled receptor 67; G-protein coupled receptor HG38; leucine-rich repeat-containing G-protein coupled receptor 5 isoform 2 precursor; orphan G protein-coupled receptor HG38", "tax_id": 9606, "disease": "ankyloglossia (Disease Ontology:DOID:0060604)", "pathway": " (hsa:8549); (R-HSA-4641263)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "12601349;16109882;16357527;16575208;17400545;17804805;19030762;20495530;21693646;21727895;21909076;22575959;22815884;23439653;23756651;23809763;23847203;24715725;29557506;29769720;29789417;33968037;34171305;35051231;35494241;36833408;36853294;37453564;37512045;37548329;9642114;9849958", "class_list": "", "function": "Detecting rare thalassemia in children with anemia using third-generation sequencing., [RefSeq, PubMed]; Evaluation of LGR5 Cancer Stem Cell Marker Expression in Breast Cancer and Its Relationship with Hormonal Profile and Clinical Pathological Features. Publication Status: Online-Only, [RefSeq, PubMed]; GPR49 may have a role in human colon and ovarian primary tum, [RefSeq, PubMed]; Genome-Wide Association Study Identifies 4 Novel Risk Loci for Small Intestinal Neuroendocrine Tumors Including a Missense Mutation in LGR5., [RefSeq, PubMed]; Gpr49 may be critically involved in the development of hepatocellular carcinoma with beta-catenin mutations, [RefSeq, PubMed]; Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a stem cell marker of the intestinal epithelium and the hair follicle. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G protein-coupled receptors, does not activate heterotrimeric G proteins to transduce the signal. Involved in the development and/or maintenance of the adult intestinal stem cells during postembryonic development., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; TCF7L1 Regulates LGR5 Expression in Colorectal Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The Expression of Stem Cell Marker LGR5 and Its Coexpression with Beta-Catenin in Sporadic Colorectal Carcinoma and Adenoma: A Comparative Immunohistochemical Study. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "D8MCT0;Q4VAM0;Q4VAM2;Q9UP75", "ec_number_list": [], "go_molecular_function": "GO:0016500 protein-hormone receptor activity;GO:0004888 transmembrane signaling receptor activity;GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "O75473-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31025-1", "uniprot_id": [ { "id": "LCN1_HUMAN", "url": "https://www.uniprot.org/uniprot/P31025", "type": "external" } ], "mass": 19250.0, "length": 176, "protein_name": "Lipocalin-1", "gene_name": "LCN1", "organism": "Human", "refseq_name": "lipocalin-1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001239546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239546", "type": "external" } ], "gene_names_uniprotkb": "LCN1; VEGP", "gene_names_refseq": "LCN1; PMFA; TLC; TP; VEGP", "protein_names_uniprotkb": "Lipocalin-1; TP; Tear lipocalin; Tear prealbumin; Tlc; VEG protein; von Ebner gland protein", "protein_names_refseq": "VEG protein; Von Ebner gland protein; lipocalin-1 isoform 1 precursor; protein migrating faster than albumin; tear prealbumin", "tax_id": 9606, "disease": "", "pathway": " (hsa:3933); (R-HSA-804914)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10518211;11287427;12235169;12556534;12591932;1400345;15489503;16249071;16504339;17869594;19770509;19946382;20124557;21324447;25946035;26375851;28218747;31154438;31611695;31717259;32983136;33631671;34087483;3453108;35580925;35995384;38665916;7679926;7684291;7918467;8112601;8500570;9878842", "class_list": "", "function": "Could play a role in taste reception. Could be necessary for the concentration and delivery of sapid molecules in the gustatory system. Can bind various ligands, with chemical structures ranging from lipids and retinoids to the macrocyclic antibiotic rifampicin and even to microbial siderophores. Exhibits an extremely wide ligand pocket., [UniProtKB]; Lipocalin is a novel autoantigen target in Sjogren's syndrome., [RefSeq, PubMed]; Lipocalin-1 is the acceptor protein for phospholipid transfer protein in tears., [RefSeq, PubMed]; Study has identified the first protein, lipocalin-1, in the secretome of human blastocysts that is associated with chromosome aneuploidy., [RefSeq, PubMed]; Targeted proteomics using parallel reaction monitoring confirms salivary proteins indicative of metastatic triple-negative breast cancer., [RefSeq, PubMed]; Tear lipocalin with the bound artificial ligand 1,4-butanediol has been crystallized in space group P2(1) with four protein molecules in the asymmetric unit and its X-ray structure has been solved at 2.6 A resolution., [RefSeq, PubMed]; This gene encodes a member of the lipocalin family of small secretory proteins. Lipocalins are extracellular transport proteins that bind to a variety of hydrophobic ligands. The encoded protein is the primary lipid binding protein in tears and is overproduced in response to multiple stimuli including infection and stress. The encoded protein may be a marker for chromosome aneuploidy as well as an autoantigen in Sjogren's syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and two pseudogenes of this gene are also located on the long arm of chromosome 9. [provided by RefSeq, Nov 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T8A1", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008270 zinc ion binding;GO:0031404 chloride ion binding;GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006508 proteolysis;GO:0050909 sensory perception of taste", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P31025-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52954-1", "uniprot_id": [ { "id": "LBX1_HUMAN", "url": "https://www.uniprot.org/uniprot/P52954", "type": "external" } ], "mass": 30221.0, "length": 281, "protein_name": "Transcription factor LBX1", "gene_name": "LBX1", "organism": "Human", "refseq_name": "transcription factor LBX1", "refseq_ac": [ { "id": "NP_006553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006553", "type": "external" } ], "gene_names_uniprotkb": "LBX1; LBX1H", "gene_names_refseq": "CCHS3; HPX-6; HPX6; LBX1H; LBX1; homeobox", "protein_names_uniprotkb": "Transcription factor LBX1; Ladybird homeobox protein homolog 1", "protein_names_refseq": "lady bird-like homeobox; ladybird homeobox homolog 1; ladybird homeobox protein homolog 1; transcription factor LBX1; transcription factor similar to D. melanogaster homeodomain protein lady bird late", "tax_id": 9606, "disease": "congenital central hypoventilation syndrome (Disease Ontology:DOID:0060731); central hypoventilation syndrome, congenital, 3 (MONDO:MONDO:0030539)", "pathway": " (hsa:10660)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "23481700;30487221;34190053;34190099;35460899;36140724;8645601", "class_list": "", "function": "Association of LBX1 Gene Methylation Level with Disease Severity in Patients with Idiopathic Scoliosis: Study on Deep Paravertebral Muscles. Publication Status: Online-Only, [RefSeq, PubMed]; Biological effect of dysregulated LBX1 on adolescent idiopathic scoliosis through modulating muscle carbohydrate metabolism., [RefSeq, PubMed]; LBX1 may play a role in the development of AIS via regulating the proliferation and differentiation of myosatellite cells., [RefSeq, PubMed]; Role of differentially expressed LBX1 in Adolescent Idiopathic Scoliosis (AIS) paraspinal muscle phenotypes and muscle-bone crosstalk through modulating myoblasts., [RefSeq, PubMed]; This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor required for the development of GABAergic interneurons in the dorsal horn of the spinal cord and migration and further development of hypaxial muscle precursor cells for limb muscles, diaphragm and hypoglossal cord., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9EGA2;Q05BB2", "ec_number_list": [], "go_molecular_function": "GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P52954-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T871-1", "uniprot_id": [ { "id": "LELP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T871", "type": "external" } ], "mass": 10697.0, "length": 98, "protein_name": "Late cornified envelope-like proline-rich protein 1", "gene_name": "LELP1", "organism": "Human", "refseq_name": "late cornified envelope-like proline-rich protein 1", "refseq_ac": [ { "id": "NP_001010857", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010857", "type": "external" } ], "gene_names_uniprotkb": "LELP1", "gene_names_refseq": "LELP1", "protein_names_uniprotkb": "Late cornified envelope-like proline-rich protein 1; Novel small proline-rich protein", "protein_names_refseq": "late cornified envelope-like proline-rich protein 1; novel small proline rich protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:149018); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17387579;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;26608070;27304082;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "MRNA levels of LELP1, SPRR1Av1, and SPRR1Av2 were significantly higher in the skin of patients with AD compared with the control group., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Suggest that rs7534334 SNP, located in the LELP1 region, may be a potential genetic marker for the risk and course of atopic dermatitis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L4E1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q5T871-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68G75-1", "uniprot_id": [ { "id": "LEMD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68G75", "type": "external" } ], "mass": 20326.0, "length": 181, "protein_name": "LEM domain-containing protein 1", "gene_name": "LEMD1", "organism": "Human", "refseq_name": "LEM domain-containing protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001001552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001552", "type": "external" } ], "gene_names_uniprotkb": "LEMD1", "gene_names_refseq": "CT50; LEMD1; LEMP-1", "protein_names_uniprotkb": "LEM domain-containing protein 1; CT50; Cancer/testis antigen 50; LEM domain protein 1; LEMP-1", "protein_names_refseq": "LEM domain protein 1; LEM domain-containing protein 1 isoform 3; LEM domain-containing protein 1; cancer/testis antigen 50", "tax_id": 9606, "disease": "Emery-Dreifuss muscular dystrophy (Disease Ontology:DOID:11726)", "pathway": " (hsa:93273)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "15254688;20682177;27280633;28219643;29557506;31021450;34672237;35051231;35294319;35983249;36967459", "class_list": "", "function": "Data show that LEM domain containing 1 (LEMD1)has five transcript splicing variants (variant 1 [V1] - variant 5 [V5]), and that LEMD1 V1, V2 and V3 is expressed in testis and CR-CSCs/CICs, whereas LEMD1 V4 and V5 is ubiquitously expressed., [RefSeq, PubMed]; Downregulation of LEMD1 expression inhibited adhesion and transmigration of OSCCs., [RefSeq, PubMed]; Elevation of LEM Domain Containing 1 Predicts Poor Prognosis of NSCLC Patients and Triggers Malignant Stemness and Invasion of NSCLC Cells by Stimulating PI3K/AKT Pathway., [RefSeq, PubMed]; LEM domain containing 1 (LEMD1) transcriptionally activated by SRY-related high-mobility-group box 4 (SOX4) accelerates the progression of colon cancer by upregulating phosphatidylinositol 3-kinase (PI3K)/protein kinase B (Akt) signaling pathway., [RefSeq, PubMed]; LEM domain containing 1 promotes proliferation via activating the PI3K/Akt signaling pathway in gastric cancer., [RefSeq, PubMed]; LEM domain-containing 1 is a novel testis-specific gene expressed in colorectal cancers, [RefSeq, PubMed]; Long Noncoding RNA LEMD1-AS1 Increases LEMD1 Expression and Activates PI3K-AKT Pathway to Promote Metastasis in Oral Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Long non-coding RNA LINC00958 promotes colorectal cancer progression by enhancing the expression of LEM domain containing 1 via microRNA miR-3064-5p., [RefSeq, PubMed]; Of the prostate cancer samples, 10, 10, 23 and 40% showed ODF1, ODF2, LEMD1 and SPATA19 specific bands, respectively, but none of the BPH samples expressed any of these genes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6L9T9;Q6L9U0;Q6L9U1;Q6L9U2;Q6L9U3;Q6L9U4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q68G75-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P5S2-1", "uniprot_id": [ { "id": "LEG1H_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P5S2", "type": "external" } ], "mass": 37926.0, "length": 330, "protein_name": "Protein LEG1 homolog", "gene_name": "LEG1", "organism": "Human", "refseq_name": "protein LEG1 homolog precursor", "refseq_ac": [ { "id": "NP_001010905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010905", "type": "external" } ], "gene_names_uniprotkb": "LEG1; C6orf58", "gene_names_refseq": "C6orf58; LEG1", "protein_names_uniprotkb": "Protein LEG1 homolog", "protein_names_refseq": "UPF0762 protein C6orf58; liver enriched gene 1 homolog; protein LEG1 homolog precursor; protein LEG1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:352999)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10.1101/2023.09.13.557529;16740002;20651090;29351928;29557506;29789417;31844290;34087483", "class_list": "", "function": "May be involved in early liver development., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4E1I0;Q5VUP2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6P5S2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWW0-1", "uniprot_id": [ { "id": "LCN15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWW0", "type": "external" } ], "mass": 20454.0, "length": 184, "protein_name": "Lipocalin-15", "gene_name": "LCN15", "organism": "Human", "refseq_name": "lipocalin-15 precursor", "refseq_ac": [ { "id": "NP_976222", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976222", "type": "external" } ], "gene_names_uniprotkb": "LCN15; PRO6093", "gene_names_refseq": "LCN15; PRO6093; UNQ2541", "protein_names_uniprotkb": "Lipocalin-15", "protein_names_refseq": "MSFL2541; lipocalin-15 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:389812); (R-HSA-804914)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "10518211;12235169;12556534;12975309;16504339;19946382;20124557;31848261;3453108;37340703;40596516;7684291;7918467;9878842", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0036094 small molecule binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q6UWW0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UY18-1", "uniprot_id": [ { "id": "LIGO4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UY18", "type": "external" } ], "mass": 63774.0, "length": 593, "protein_name": "Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 4", "gene_name": "LINGO4", "organism": "Human", "refseq_name": "leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 4 precursor", "refseq_ac": [ { "id": "NP_001004432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004432", "type": "external" } ], "gene_names_uniprotkb": "LINGO4; LRRN6D; PRO34002", "gene_names_refseq": "DAAT9248; LINGO4; LRRN6D; PRO34002", "protein_names_uniprotkb": "Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 4; Leucine-rich repeat neuronal protein 6D", "protein_names_refseq": "leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 4 precursor; leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 4; leucine-rich repeat neuronal protein 6D", "tax_id": 9606, "disease": "", "pathway": " (hsa:339398)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12975309;22104011;28832583;29242379;32502341;35051231;35580925;36215666", "class_list": "", "function": "Variants in coding region of the LINGO4 gene may play little or no role in the risk of Essential tremor susceptibility, [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 6, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6UY18-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7J7-1", "uniprot_id": [ { "id": "LHPL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7J7", "type": "external" } ], "mass": 27007.0, "length": 247, "protein_name": "LHFPL tetraspan subfamily member 4 protein", "gene_name": "LHFPL4", "organism": "Human", "refseq_name": "LHFPL tetraspan subfamily member 4 protein", "refseq_ac": [ { "id": "NP_940962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940962", "type": "external" } ], "gene_names_uniprotkb": "LHFPL4; GARLH4", "gene_names_refseq": "GARLH4; LHFPL4", "protein_names_uniprotkb": "LHFPL tetraspan subfamily member 4 protein; GABAA receptor regulatory Lhfpl4; Lipoma HMGIC fusion partner-like 4 protein", "protein_names_refseq": "GABAA receptor regulatory Lhfpl4; LHFP-like protein 4; LHFPL tetraspan subfamily member 4 protein; lipoma HMGIC fusion partner-like 4 protein", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 67 (Disease Ontology:DOID:0110518)", "pathway": " (hsa:375323)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "15905332;28871256;28978485;32350084", "class_list": "", "function": "Plays a role in the regulation of inhibitory synapse formation and function by being involved in maintening gamma-aminobutyric acid receptors (GABAARs) clustering and their associated scaffold proteins at inhibitory synaptic sites. Acts in concert with NLGN2 to recruit or stabilize GABAARs., [UniProtKB, UniProtKB]; The authors present an overview of the LHFP gene family in mouse and humans, [RefSeq, PubMed]; This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NH76;Q29RV7", "ec_number_list": [], "go_molecular_function": "GO:0050811 GABA receptor binding", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045211 postsynaptic membrane;GO:0060077 inhibitory synapse", "go_biological_process": "GO:0097112 gamma-aminobutyric acid receptor clustering;GO:0007605 sensory perception of sound;GO:1905702 regulation of inhibitory synapse assembly;GO:0099645 neurotransmitter receptor localization to postsynaptic specialization membrane", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q7Z7J7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UP9-1", "uniprot_id": [ { "id": "LHPL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UP9", "type": "external" } ], "mass": 25769.0, "length": 236, "protein_name": "LHFPL tetraspan subfamily member 3 protein", "gene_name": "LHFPL3", "organism": "Human", "refseq_name": "LHFPL tetraspan subfamily member 3 protein isoform 1", "refseq_ac": [ { "id": "NP_945351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945351", "type": "external" } ], "gene_names_uniprotkb": "LHFPL3; LHFPL4", "gene_names_refseq": "LHFPL3; LHFPL4", "protein_names_uniprotkb": "LHFPL tetraspan subfamily member 3 protein; Lipoma HMGIC fusion partner-like 3 protein", "protein_names_refseq": "LHFP-like protein 3; LHFPL tetraspan subfamily member 3 protein isoform 1; LHFPL tetraspan subfamily member 3 protein; lipoma HMGIC fusion partner-like 3 protein; lipoma HMGIC fusion partner-like 4", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 67 (Disease Ontology:DOID:0110518)", "pathway": " (hsa:375612)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;15905332;19401682;30314994", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results show that miR-218-5p targeting lipoma HMGIC fusion partner-like 3 protein (LHFPL3) mRNA plays significant roles in preventing the invasiveness of glioma cells. Publication Status: Online-Only, [RefSeq, PubMed]; The authors present an overview of the LHFP gene family in mouse and humans, [RefSeq, PubMed]; This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L383;A4D0Q5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q86UP9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WU2-1", "uniprot_id": [ { "id": "LDHD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WU2", "type": "external" } ], "mass": 54871.0, "length": 507, "protein_name": "D-lactate dehydrogenase, mitochondrial", "gene_name": "LDHD", "organism": "Human", "refseq_name": "D-lactate dehydrogenase, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_705690", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_705690", "type": "external" } ], "gene_names_uniprotkb": "LDHD", "gene_names_refseq": "DLACD; LDHD", "protein_names_uniprotkb": "D-lactate dehydrogenase, mitochondrial; 1.1.98.-; DLD; Lactate dehydrogenase D", "protein_names_refseq": "D-lactate dehydrogenase, mitochondrial isoform 1 precursor; D-lactate dehydrogenase; probable D-lactate dehydrogenase, mitochondrial", "tax_id": 9606, "disease": "lactic aciduria due to D-lactic acid (MONDO:MONDO:0009505)", "pathway": " (hsa:197257); (R-HSA-1268020); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "11237011;11923310;12127981;12198491;14623864;14726512;15254020;15522782;15644312;15683237;15870080;16115876;16185709;16849325;17101804;17297443;17510655;17579211;18174896;18678864;19409522;19453276;19767391;19841671;19844255;19962426;20499337;20593814;20877624;21750375;22262461;22710082;23041349;23201127;23333299;23597483;23811401;23931759;24315374;24520911;25315652;26504172;26697887;26923599;27496948;27642048;28377575;28396416;29301859;29786170;29932645;30120231;30931947;31327635;31695197;33257573;33301764;34704252;34943861;35051231;35870450;36629048;37021930;38291366;38373542;7623837", "class_list": "", "function": "Cancer/testis antigen LDHC promotes proliferation and metastasis by activating the PI3K/Akt/GSK-3beta-signaling pathway and the in lung adenocarcinoma., [RefSeq, PubMed]; Early-onset gout and rare deficient variants of the lactate dehydrogenase D gene., [RefSeq, PubMed]; Elevated serum LDH isoenzymes and AST indicate a disturbance (of uncertain clinical significance) within multiple extraosseous tissues when there is CLCN7 deficiency., [RefSeq, PubMed]; Identification and characterization of human and mouse D-lactate dehydrogenase (NAD) [D-LDH], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Systematic analysis of the role of LDHs subtype in pan-cancer demonstrates the importance of LDHD in the prognosis of hepatocellular carcinoma patients. Publication Status: Online-Only, [RefSeq, PubMed]; The activity and expression of the mitochondrial D-lactate dehydrogenase, is higher in prostate cancer versus normal prostate cells., [RefSeq, PubMed]; The mitochondrial D-lactate dehydrogenase is a stereoselective dehydrogenase that targets a wide variety of D-2-hydroxyacids, particularly those with small to moderately sized hydrophobic groups attached to the C2 atom. It includes D-lactate which is generated in small amounts either endogenously through the methylglyoxal metabolism pathway or exogenously via intestinal bacterial activity and dietary intake. The dehydrogenase acts specifically on D-lactate, not on its stereoisomer L-lactate, and prevents the toxic accumulation of D-lactate in the organism (PubMed:30931947, PubMed:38373542). By converting branched-chain D-2-hydroxyacids into branched-chain ketoacids, it may indirectly regulate branched-chain amino acid metabolism (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8IZK5", "ec_number_list": [ { "id": "3.4.24.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.64", "type": "external" }, { "id": "2.1.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.3.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "2.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.2.1", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "1.1.98.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.98.-", "type": "external" }, { "id": "2.5.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.39", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0050660 flavin adenine dinucleotide binding;GO:0071949 FAD binding;GO:0004458 D-lactate dehydrogenase (cytochrome) activity;GO:0004457 lactate dehydrogenase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:1903457 lactate catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q86WU2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92604-1", "uniprot_id": [ { "id": "LGAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92604", "type": "external" } ], "mass": 43089.0, "length": 370, "protein_name": "Acyl-CoA:lysophosphatidylglycerol acyltransferase 1", "gene_name": "LPGAT1", "organism": "Human", "refseq_name": "acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform 1", "refseq_ac": [ { "id": "NP_001307737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307737", "type": "external" } ], "gene_names_uniprotkb": "LPGAT1; FAM34A; KIAA0205", "gene_names_refseq": "FAM34A1; FAM34A; LPGAT1; LPLAT7; NET8", "protein_names_uniprotkb": "Acyl-CoA:lysophosphatidylglycerol acyltransferase 1; 2-acylglycerophosphocholine O-acyltransferase; 2.3.1.-; 2.3.1.22; 2.3.1.62; Acyl-CoA:monoacylglycerol acyltransferase LPGAT1; LPLAT7; Lysophospholipid acyltransferase 7; Stearoyl-CoA:1-lyso-2-acyl-PE acyltransferase", "protein_names_refseq": "2-acylglycerophosphocholine O-acyltransferase; acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform 1; acyl-CoA:lysophosphatidylglycerol acyltransferase 1; acyl-CoA:monoacylglycerol acyltransferase LPGAT1; family with sequence similarity 34, member A; lysophospholipid acyltransferase 7; stearoyl-CoA:1-lyso-2-acyl-PE acyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:9926); (R-HSA-1482925)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10.1101/2023.09.13.557529;10455175;10681567;11031251;11112443;11830583;12161451;12359733;12522102;15485873;15863501;16243729;16704971;16864775;18458083;20025994;20112406;20705608;23481700;23505186;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26811146;26929215;26992070;27600516;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;2925608;29393594;29437277;29632046;29769354;30315122;30410026;31844290;32157095;32265295;32350084;32357974;32387766;32502341;33717175;33912179;34171305;34357683;34890643;35051231;35580925;36049524;37258473;7060561;8300559;9188469", "class_list": "", "function": "Human LPGAT1 is an endoplasmic reticulum-associated lysophosphatidylglycerol acyltransferase, [RefSeq, PubMed]; LPGAT1 is a novel gene that influences BMI in Native Americans., [RefSeq, PubMed]; Lysophospholipid acyltransferase involved in fatty acyl chain remodeling of glycerophospholipids in the endoplasmic reticulum membrane (By similarity). Selectively catalyzes the transfer and esterification of saturated long-chain fatty acids from acyl-CoA to the sn-1 position of 1-lyso-2-acyl phosphatidylethanolamines (1-lyso-PE, LPE), with a preference for stearoyl CoA over palmitoyl CoA as acyl donor (PubMed:36049524). Acts in concert with an unknown phospholipase A1 to convert palmitate phosphatidylethanolamine (PE) species into stearate ones. Provides substrates to the PE methylation pathway, controlling stearate/palmitate composition of PE and phosphatidylcholine (PC) species with an overall impact on de novo hepatic lipid synthesis, body fat content and life span (By similarity). Can acylate lysophosphatidylglycerols (LPG) using various saturated fatty acyl-CoAs as acyl donors (PubMed:15485873). Can also acylate monoacylglycerols with a preference for 2-monoacylglycerols over 1-monoacylglycerols (By similarity). Has no activity toward lysophosphatidic acids (LPA) (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; This gene encodes a member of the lysophospholipid acyltransferase family. The encoded protein catalyzes the reacylation of lysophosphatidylglycerol to phosphatidylglycerol, a membrane phospholipid that is an important precursor for the synthesis of cardiolipin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]; Upregulation of LPGAT1 Enhances Lung Adenocarcinoma Proliferation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53YL2", "ec_number_list": [ { "id": "2.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.20", "type": "external" }, { "id": "2.3.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.22", "type": "external" }, { "id": "2.3.1.121", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.121", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.n6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n6", "type": "external" }, { "id": "2.3.1.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n7", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" }, { "id": "2.3.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.62", "type": "external" } ], "go_molecular_function": "GO:0047144 2-acylglycerol-3-phosphate O-acyltransferase activity;GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity;GO:0071617 lysophospholipid acyltransferase activity;GO:0016746 acyltransferase activity;GO:0003846 2-acylglycerol O-acyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0036148 phosphatidylglycerol acyl-chain remodeling;GO:0036152 phosphatidylethanolamine acyl-chain remodeling;GO:0045723 positive regulation of fatty acid biosynthetic process;GO:0019432 triglyceride biosynthetic process;GO:0008654 phospholipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q92604-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GIP4-3", "uniprot_id": [ { "id": "LAT1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GIP4", "type": "external" } ], "mass": 19840.0, "length": 190, "protein_name": "Putative L-type amino acid transporter 1-like protein IMAA", "gene_name": "SLC7A5P2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SLC7A5P2; IMAA; MMAA", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative L-type amino acid transporter 1-like protein IMAA; hLAT1 3-transmembrane protein IMAA; hLAT1 3-transmembrane protein MMAA; hLAT1 3TM IMAA; hLAT1 3TM MMAA", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 10, "publication_id_list": "12009310;30410026;30484775;30833945;31530632;31998317;32502341;32561536;33141586;36010968", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IPZ0;Q8MH62", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:1902475 L-alpha-amino acid transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9GIP4-3", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5L5-1", "uniprot_id": [ { "id": "LENEP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5L5", "type": "external" } ], "mass": 6908.0, "length": 61, "protein_name": "Lens epithelial cell protein LEP503", "gene_name": "LENEP", "organism": "Human", "refseq_name": "lens epithelial cell protein LEP503", "refseq_ac": [ { "id": "NP_061125", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061125", "type": "external" } ], "gene_names_uniprotkb": "LENEP; LEP503", "gene_names_refseq": "LENEP; LEP503", "protein_names_uniprotkb": "Lens epithelial cell protein LEP503", "protein_names_refseq": "lens epithelial cell protein LEP503", "tax_id": 9606, "disease": "", "pathway": " (hsa:55891)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "10655141;11376938;19054851", "class_list": "", "function": "May play a role in lens epithelial cell differentiation., [UniProtKB]; The ocular lens is a tissue of epithelial origin and devoid of blood vessels and nerves. Cells of the lens epithelium are responsible for the growth and maintenance of the lens through mitosis, protein synthesis, and active transport of ions and metabolites across the lens capsule. Lens epithelial protein is expressed exclusively in lens epithelial cells and may play a role in cell differentiation. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B5BUM1;Q5T1A4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "", "go_biological_process": "GO:0002088 lens development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9Y5L5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P98164-1", "uniprot_id": [ { "id": "LRP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P98164", "type": "external" } ], "mass": 521958.0, "length": 4655, "protein_name": "Low-density lipoprotein receptor-related protein 2", "gene_name": "LRP2", "organism": "Human", "refseq_name": "low-density lipoprotein receptor-related protein 2 precursor", "refseq_ac": [ { "id": "NP_004516", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004516", "type": "external" } ], "gene_names_uniprotkb": "LRP2", "gene_names_refseq": "DBS; GP330; LRP-2; LRP2", "protein_names_uniprotkb": "Low-density lipoprotein receptor-related protein 2; Glycoprotein 330; LRP-2; Megalin; gp330", "protein_names_refseq": "Heymann nephritis antigen homolog; calcium sensor protein; glycoprotein 330; low-density lipoprotein receptor-related protein 2 precursor; low-density lipoprotein receptor-related protein 2; megalin", "tax_id": 9606, "disease": "Donnai-Barrow syndrome (Disease Ontology:DOID:0090144); Fanconi syndrome (Disease Ontology:DOID:1062); hypertension (Disease Ontology:DOID:10763); membranous glomerulonephritis (Disease Ontology:DOID:10976); degenerative myopia (Disease Ontology:DOID:11829); myopia (Disease Ontology:DOID:11830); congenital heart disease (Disease Ontology:DOID:1682); nephrosis (Disease Ontology:DOID:2527); autoimmune thyroiditis (Disease Ontology:DOID:7188); end stage renal disease (Disease Ontology:DOID:783); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:4036); (R-HSA-196791); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-975634); (R-HSA-9758890)", "pathway_count": 6, "publication_count": 347, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10052453;10052934;10097102;10436022;10518789;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769148;10769163;10983987;11012668;11060341;11071885;11076969;11082044;11085925;11181758;11231140;11234559;11237011;11239472;11247302;11274389;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11717447;11799400;11856765;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12227689;12234931;12429842;12447393;12451172;12464600;12508107;12717448;1279089;12847086;12855575;12867411;12944396;12952949;12958364;1317852;1400426;14528014;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15126248;15134832;15252009;15260957;15318165;15339664;1535555;15358783;1542003;15465040;15473838;15502812;15502813;15583000;15647825;15649145;15652495;15671180;15703209;15728179;15728261;15802264;15895077;15916959;16103228;16143106;16159959;16200213;16215232;16326391;16410077;16459302;16460808;16516836;16537422;16707488;16723738;16798879;16880396;16903783;16939223;16959974;17018281;17035995;17158794;17267500;17324488;17360967;17456551;17462596;17494869;17512409;17522231;17525477;17540576;17609109;17632512;17644776;17681954;17713526;17762867;17765681;17978091;18032517;18087047;18093523;18166656;18199683;18295589;18388313;18460466;1847920;18507396;1856611;18775314;18779389;18790740;18819912;18981233;19014918;19092055;19136951;19139408;19140243;19287005;19296720;19413330;19458185;19473635;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20211604;20231386;20351096;20428113;20448150;20524213;20826345;20946875;21102408;21106934;2115402;21187331;21248752;21278753;21316588;21445324;21482805;21499258;21511966;21595846;21613550;21779028;21841790;21849106;21851338;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;22547309;22564762;2257624;22815487;22863004;22877430;22879719;22918710;22922874;22942912;23275343;23297414;23536704;23584533;23823722;23825075;23836931;23846701;23857223;23861397;23891661;23992033;24101867;24106281;24130457;24186068;24384571;24569127;24581490;24680432;24746795;24789820;24966051;25107275;25303366;25341920;25363733;25502872;25645385;26042225;26403691;26434738;26529358;26748501;26829388;27250744;27411955;27452731;27456980;2777761;27798286;27913313;2793848;28005175;28206978;28228285;28841848;2890644;29242379;29557506;29632046;29741879;29786170;29789417;30429286;30459171;30573663;31154438;31844290;31848261;32157095;32350084;32387766;32938616;33392160;33845046;33968037;34171305;3417785;34411563;35051231;35154160;36010968;37074911;3714052;37406929;37594671;3782074;38008818;38771880;3942763;4001945;4345202;5057882;5675424;6146630;6420172;6961410;7569928;759210;7683668;7768901;7822302;7877694;7959795;8017323;8187828;8384721;8506296;8524399;8552632;8553074;8679605;8706697;8710919;8728311;8837779;9092476;9100026;915005;9169477;9303539;9427626;9428629;9635431;9723620;9736607;9812899;9821970;9888420;9920938;9925661", "class_list": "", "function": "Cryo-EM structures elucidate the multiligand receptor nature of megalin., [RefSeq, PubMed]; Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin?, [RefSeq, PubMed]; Multiligand endocytic receptor (By similarity). Acts together with CUBN to mediate endocytosis of high-density lipoproteins (By similarity). Mediates receptor-mediated uptake of polybasic drugs such as aprotinin, aminoglycosides and polymyxin B (By similarity). In the kidney, mediates the tubular uptake and clearance of leptin (By similarity). Also mediates transport of leptin across the blood-brain barrier through endocytosis at the choroid plexus epithelium (By similarity). Endocytosis of leptin in neuronal cells is required for hypothalamic leptin signaling and leptin-mediated regulation of feeding and body weight (By similarity). Mediates endocytosis and subsequent lysosomal degradation of CST3 in kidney proximal tubule cells (By similarity). Mediates renal uptake of 25-hydroxyvitamin D3 in complex with the vitamin D3 transporter GC/DBP (By similarity). Mediates renal uptake of metallothionein-bound heavy metals (PubMed:15126248). Together with CUBN, mediates renal reabsorption of myoglobin (By similarity). Mediates renal uptake and subsequent lysosomal degradation of APOM (By similarity). Plays a role in kidney selenium homeostasis by mediating renal endocytosis of selenoprotein SEPP1 (By similarity). Mediates renal uptake of the antiapoptotic protein BIRC5/survivin which may be important for functional integrity of the kidney (PubMed:23825075). Mediates renal uptake of matrix metalloproteinase MMP2 in complex with metalloproteinase inhibitor TIMP1 (By similarity). Mediates endocytosis of Sonic hedgehog protein N-product (ShhN), the active product of SHH (By similarity). Also mediates ShhN transcytosis (By similarity). In the embryonic neuroepithelium, mediates endocytic uptake and degradation of BMP4, is required for correct SHH localization in the ventral neural tube and plays a role in patterning of the ventral telencephalon (By similarity). Required at the onset of neurulation to sequester SHH on the apical surface of neuroepithelial cells of the rostral diencephalon ventral midline and to control PTCH1-dependent uptake and intracellular trafficking of SHH (By similarity). During neurulation, required in neuroepithelial cells for uptake of folate bound to the folate receptor FOLR1 which is necessary for neural tube closure (By similarity). In the adult brain, negatively regulates BMP signaling in the subependymal zone which enables neurogenesis to proceed (By similarity). In astrocytes, mediates endocytosis of ALB which is required for the synthesis of the neurotrophic factor oleic acid (By similarity). Involved in neurite branching (By similarity). During optic nerve development, required for SHH-mediated migration and proliferation of oligodendrocyte precursor cells (By similarity). Mediates endocytic uptake and clearance of SHH in the retinal margin which protects retinal progenitor cells from mitogenic stimuli and keeps them quiescent (By similarity). Plays a role in reproductive organ development by mediating uptake in reproductive tissues of androgen and estrogen bound to the sex hormone binding protein SHBG (By similarity). Mediates endocytosis of angiotensin-2 (By similarity). Also mediates endocytosis of angiotensis 1-7 (By similarity). Binds to the complex composed of beta-amyloid protein 40 and CLU/APOJ and mediates its endocytosis and lysosomal degradation (By similarity). Required for embryonic heart development (By similarity). Required for normal hearing, possibly through interaction with estrogen in the inner ear (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB]; Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea., [RefSeq, PubMed]; Proprotein convertase subtilisin/kexin type 9 targets megalin in the kidney proximal tubule and aggravates proteinuria in nephrotic syndrome., [RefSeq, PubMed]; The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]., [RefSeq]", "predicted_glycosites": 16, "predicted_n_glycosites": 15, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 25, "reported_o_glycosites": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 19, "reported_o_glycosites_with_glycan": 41, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 25, "total_reported_o_glycosites": 42, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 25, "total_o_glycosites": 42, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 342, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 192, "disease_count": 11, "glyco_site_count": 83, "binding_glycan_count": 0, "secondary_ac_list": "O00711;Q16215", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0051087 protein-folding chaperone binding;GO:0005509 calcium ion binding;GO:0042562 hormone binding;GO:0005041 low-density lipoprotein particle receptor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0030424 axon", "go_biological_process": "GO:0042359 vitamin D metabolic process;GO:1905167 positive regulation of lysosomal protein catabolic process;GO:0001523 retinoid metabolic process;GO:0006629 lipid metabolic process;GO:0006897 endocytosis", "synthesized_glycan_count": 0, "hit_score": 60.7, "record_id": "P98164-1", "record_type": "protein", "filter_code": "0000000.1000111.000100.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00709-1", "uniprot_id": [ { "id": "LALBA_HUMAN", "url": "https://www.uniprot.org/uniprot/P00709", "type": "external" } ], "mass": 16225.0, "length": 142, "protein_name": "Alpha-lactalbumin", "gene_name": "LALBA", "organism": "Human", "refseq_name": "alpha-lactalbumin precursor", "refseq_ac": [ { "id": "NP_002280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280", "type": "external" } ], "gene_names_uniprotkb": "LALBA; LYZL7", "gene_names_refseq": "HAMLET; LALBA; LYZG", "protein_names_uniprotkb": "Alpha-lactalbumin; Lactose synthase B protein; Lysozyme-like protein 7", "protein_names_refseq": "alpha-lactalbumin precursor; alpha-lactalbumin; lactose synthase B protein; lysozyme G; lysozyme-like protein 7", "tax_id": 9606, "disease": "gastroenteritis (Disease Ontology:DOID:2326); viral infectious disease (Disease Ontology:DOID:934)", "pathway": " (hsa:3906); (R-HSA-5653890); (R-HSA-9927426)", "pathway_count": 3, "publication_count": 19, "publication_id_list": "10080897;10759149;11237011;11419947;11947697;1401360;15866226;18780401;1920433;23005341;27238572;2954544;31582209;35051231;5049057;6285305;806951;8366079;9537992", "class_list": "", "function": "High molecular mass complexes are formed with alpha-lactalbumin and alphaB-crystallin, preventing the amorphous aggregation of alpha-lactalbumin., [RefSeq, PubMed]; Human alpha-lactalbumin and human lactoferrin complexes appeared to interact with the chromatin of isolated nuclei affecting chromatin structural organization, [RefSeq, PubMed]; Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins., [UniProtKB, UniProtKB, UniProtKB]; Studies indicate that alpha-lactalbumin has two domains, a large alpha-helical domain and a small beta-sheet domain connected by a calcium binding loop. Review article, [RefSeq, PubMed]; This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6FGX0;Q9UDK4", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0003796 lysozyme activity;GO:0004461 lactose synthase activity;GO:0140767 enzyme-substrate adaptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0032991 protein-containing complex;GO:0005576 extracellular region", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "P00709-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75074-1", "uniprot_id": [ { "id": "LRP3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75074", "type": "external" } ], "mass": 82884.0, "length": 770, "protein_name": "Low-density lipoprotein receptor-related protein 3", "gene_name": "LRP3", "organism": "Human", "refseq_name": "low-density lipoprotein receptor-related protein 3 precursor", "refseq_ac": [ { "id": "NP_002324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002324", "type": "external" } ], "gene_names_uniprotkb": "LRP3", "gene_names_refseq": "LRP3", "protein_names_uniprotkb": "Low-density lipoprotein receptor-related protein 3; 105 kDa low-density lipoprotein receptor-related protein; LRP-3; hLRp105", "protein_names_refseq": "105 kDa low-density lipoprotein receptor-related protein; CTD-2540B15.13; LRP-3; hLRp105; low-density lipoprotein receptor-related protein 3 precursor; low-density lipoprotein receptor-related protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:4037)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16303743;24715725;25505266;28340487;29557506;31848261;32387766;33141586;34357683;34509645;34727970;35051231;9693042", "class_list": "", "function": "Low-density lipoprotein receptor-related protein 3 (-deficient cells showed impaired osteoblastic and enhanced adipocytic differentiation., [RefSeq, PubMed]; Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. Its precise role is however unclear, since it does not bind to very low density lipoprotein (VLDL) or to LRPAP1 in vitro., [UniProtKB]; The apolipoprotein receptor LRP3 compromises APP levels. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KQD6;B4DKF2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0016020 membrane", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:0006898 receptor-mediated endocytosis;GO:0045669 positive regulation of osteoblast differentiation;GO:0045599 negative regulation of fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O75074-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13473-1", "uniprot_id": [ { "id": "LAMP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P13473", "type": "external" } ], "mass": 44961.0, "length": 410, "protein_name": "Lysosome-associated membrane glycoprotein 2", "gene_name": "LAMP2", "organism": "Human", "refseq_name": "lysosome-associated membrane glycoprotein 2 isoform C precursor", "refseq_ac": [ { "id": "NP_001116078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116078", "type": "external" } ], "gene_names_uniprotkb": "LAMP2", "gene_names_refseq": "CD107b; DND; LAMP-2; LAMP2; LAMPB; LGP-96; LGP110", "protein_names_uniprotkb": "Lysosome-associated membrane glycoprotein 2; CD107 antigen-like family member B; LAMP-2; LGP-96; Lysosome-associated membrane protein 2", "protein_names_refseq": "CD107 antigen-like family member B; lysosomal associated membrane protein 2; lysosome-associated membrane glycoprotein 2 isoform C precursor; lysosome-associated membrane glycoprotein 2", "tax_id": 9606, "disease": "Danon disease (Disease Ontology:DOID:0050437); traumatic brain injury (Disease Ontology:DOID:0081292); sciatic neuropathy (Disease Ontology:DOID:11446); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); cholestasis (Disease Ontology:DOID:13580); cognitive disorder (Disease Ontology:DOID:1561); chronic conjunctivitis (Disease Ontology:DOID:2475); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:3920); (R-HSA-114608); (R-HSA-6798695); (R-HSA-9613829)", "pathway_count": 4, "publication_count": 152, "publication_id_list": "10.1007/s00018-021-03863-1;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10972294;11082038;11237011;12112061;12754519;1435334;14630798;15253947;15297306;15340161;15673802;15894275;15907287;16190986;16335952;17897319;17899313;18644871;19159218;20068231;20112406;20518820;20797626;21282471;21654843;2243102;22641697;23090970;23301498;23345538;23555621;23584533;23640497;23650620;23783831;24190977;24880125;25342746;25418920;25469497;25502872;25576301;25645385;25813380;25880248;26118642;26154972;26811146;26856698;26929215;26992070;27600516;27628032;27846572;27920218;28063628;28228285;28411811;28467828;28832583;28834231;28855257;28860189;2912382;29242379;29314611;29391424;29393594;29437277;29557506;29626215;29632046;29632711;29671580;29741879;29789417;30315122;30429286;30620550;30779550;3087571;31154438;31844290;31848261;3198605;31998317;32157095;32265295;32295904;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33043033;33123756;33141586;33392160;33592498;33912179;33936100;33968037;33981976;34019948;34078123;34089345;34171305;34357683;34433824;34509645;34725712;34932366;35051231;35132862;35154160;35251023;35580925;35705054;36010968;36240223;36241641;36481789;36586411;37074911;37390818;38256360;38665916;38717639;39534244;40307207;40596516;40914422;41018975;6457647;7488019;7919972;7999007;8323299;8407947;8467233;8504498;8517882;8662539;8692836;9038169;9151685", "class_list": "glycogene", "function": "(Microbial infection) Supports the FURIN-mediated cleavage of mumps virus fusion protein F by interacting with both FURIN and the unprocessed form but not the processed form of the viral protein F., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease. Publication Status: Online-Only, [RefSeq, PubMed]; LAMP2A regulates cisplatin resistance in colorectal cancer through mediating autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; Lysosomal membrane glycoprotein which plays an important role in lysosome biogenesis, lysosomal pH regulation and autophagy (PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:27628032, PubMed:36586411, PubMed:37390818, PubMed:8662539). Acts as an important regulator of lysosomal lumen pH regulation by acting as a direct inhibitor of the proton channel TMEM175, facilitating lysosomal acidification for optimal hydrolase activity (PubMed:37390818). Plays an important role in chaperone-mediated autophagy, a process that mediates lysosomal degradation of proteins in response to various stresses and as part of the normal turnover of proteins with a long biological half-live (PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:27628032, PubMed:36586411, PubMed:8662539). Functions by binding target proteins, such as GAPDH, GPX4, NLRP3 and MLLT11, and targeting them for lysosomal degradation (PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:36586411, PubMed:8662539). In the chaperone-mediated autophagy, acts downstream of chaperones, such as HSPA8/HSC70, which recognize and bind substrate proteins and mediate their recruitment to lysosomes, where target proteins bind LAMP2 (PubMed:36586411). Plays a role in lysosomal protein degradation in response to starvation (By similarity). Required for the fusion of autophagosomes with lysosomes during autophagy (PubMed:27628032). Cells that lack LAMP2 express normal levels of VAMP8, but fail to accumulate STX17 on autophagosomes, which is the most likely explanation for the lack of fusion between autophagosomes and lysosomes (PubMed:27628032). Required for normal degradation of the contents of autophagosomes (PubMed:27628032). Required for efficient MHC class II-mediated presentation of exogenous antigens via its function in lysosomal protein degradation; antigenic peptides generated by proteases in the endosomal/lysosomal compartment are captured by nascent MHC II subunits (PubMed:15894275, PubMed:20518820). Is not required for efficient MHC class II-mediated presentation of endogenous antigens (PubMed:20518820)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Modulates chaperone-mediated autophagy. Decreases presentation of endogenous antigens by MHCII. Does not play a role in the presentation of exogenous and membrane-derived antigens by MHCII., [UniProtKB, PubMed]; The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 0, "mined_o_glycosites": 2, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 16, "reported_o_glycosites": 10, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 14, "reported_o_glycosites_with_glycan": 19, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 16, "total_reported_o_glycosites": 19, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 16, "total_o_glycosites": 21, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 481, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 314, "disease_count": 8, "glyco_site_count": 36, "binding_glycan_count": 0, "secondary_ac_list": "A8K4X5;D3DTF0;Q16641;Q6Q3G8;Q96J30;Q99534;Q9UD93", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0019904 protein domain specific binding;GO:0030674 protein-macromolecule adaptor activity;GO:0035591 signaling adaptor activity;GO:0008200 ion channel inhibitor activity", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0061684 chaperone-mediated autophagy;GO:0006605 protein targeting;GO:0050821 protein stabilization;GO:0031647 regulation of protein stability", "synthesized_glycan_count": 0, "hit_score": 50.2, "record_id": "P13473-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100010000001.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18627-1", "uniprot_id": [ { "id": "LAG3_HUMAN", "url": "https://www.uniprot.org/uniprot/P18627", "type": "external" } ], "mass": 57449.0, "length": 525, "protein_name": "Lymphocyte activation gene 3 protein", "gene_name": "LAG3", "organism": "Human", "refseq_name": "lymphocyte activation gene 3 protein isoform 1 precursor", "refseq_ac": [ { "id": "NP_002277", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002277", "type": "external" } ], "gene_names_uniprotkb": "LAG3; FDC", "gene_names_refseq": "CD223; LAG3", "protein_names_uniprotkb": "Lymphocyte activation gene 3 protein; LAG-3", "protein_names_refseq": "lymphocyte activation gene 3 protein isoform 1 precursor; lymphocyte activation gene 3 protein; lymphocyte-activation gene 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:3902); (R-HSA-2132295)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10036229;10064083;10072072;10480952;10540230;10593899;10631941;10631952;10639150;10748235;10809954;11529500;11684289;11790530;11813165;11853874;12078484;12198549;12742663;12748383;1380059;14731593;15749704;15911768;16181339;16242130;16618111;16824007;1692078;17142755;17283181;18046453;18292509;1956401;19564404;20421648;21116285;2121367;21441454;2190094;23481700;2391366;25502872;27846572;27920218;28218747;28467828;29242379;29437277;29508533;29557506;29632711;29786170;30315122;30580966;31844290;32350084;32920841;32938616;34357683;34433824;35051231;35154160;35251023;35761082;35981087;36278613;37619561;37788323;38982041;39105820;39191259;39671469;40101708;40592325;7481823;7589152;7592972;7650016;7667286;7805750;8046351;8134367;8145819;8148318;8313912;8397411;8415765;8642258;8647185;8687433;8849454;8909537;8939989;8947036;9075930;9159144;9202021;9311912;9312039;9497313;9539769;9545226;9606180;9634475", "class_list": "", "function": "Indirect suppression of CD4 T cell activation through LAG-3-mediated trans-endocytosis of MHC class II., [RefSeq, PubMed]; Inhibitory receptor on antigen activated T-cells (PubMed:20421648, PubMed:35761082, PubMed:7805750, PubMed:8647185). Delivers inhibitory signals upon binding to ligands, such as MHC class II, its main ligand present at the surface of antigen-presenting cells (APCs), and FGL1, which is secreted by hepatocytes and certain types of tumor cells (PubMed:30580966, PubMed:32920841, PubMed:35761082, PubMed:39671469, PubMed:7589152, PubMed:8647185, PubMed:9159144). Ligand-binding initiates a signaling that inhibits the T-cell receptor (TCR) in the immunological synapse, preventing T-cell activation (PubMed:40101708). Mechanistically, ligand-binding promotes (1) ubiquitination of the KIEELE motif, unleashing the RRFSALE motif from the membrane and (2) leading to the formation of condensates with the TCR component CD3E, thereby disrupting the association between CD3E and LCK and preventing TCR activation (PubMed:40101708, PubMed:40592325). May inhibit antigen-specific T-cell activation in synergy with PDCD1/PD-1 (By similarity). Negatively regulates the proliferation, activation, effector function and homeostasis of both CD8(+) and CD4(+) T-cells (PubMed:20421648, PubMed:7805750, PubMed:8647185). Also mediates immune tolerance: constitutively expressed on a subset of regulatory T-cells (Tregs) and contributes to their suppressive function (By similarity). Also acts as a negative regulator of plasmacytoid dendritic cell (pDCs) activation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Lymphocyte-activation protein 3 belongs to Ig superfamily and contains 4 extracellular Ig-like domains. The LAG3 gene contains 8 exons. The sequence data, exon/intron organization, and chromosomal localization all indicate a close relationship of LAG3 to CD4. [provided by RefSeq, Jul 2008]., [RefSeq]; May function as a ligand for MHC class II (MHC-II) on antigen-presenting cells (APC), promoting APC activation/maturation and driving Th1 immune response., [UniProtKB, UniProtKB]; Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease. Publication Status: Online-Only, [RefSeq, PubMed]; TIGIT expression in renal cell carcinoma infiltrating T cells is variable and inversely correlated with PD-1 and LAG3. Publication Status: Online-Only, [RefSeq, PubMed]; The LAG3-mediated inhibitory pathway is exploited by tumors to attenuate anti-tumor immunity and escape destruction by the immune system, thereby facilitating tumor survival (PubMed:35981087, PubMed:40101708). The blockage of the LAG3- and PDCD1-mediated pathways results in the reversal of the exhausted T-cell phenotype and the normalization of the anti-tumor response, providing a rationale for cancer immunotherapy (PubMed:35981087, PubMed:40101708)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 33, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K7T9;Q7Z643", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0003823 antigen binding;GO:0042289 MHC class II protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0002270 plasmacytoid dendritic cell activation;GO:0007166 cell surface receptor signaling pathway;GO:0050776 regulation of immune response;GO:0002250 adaptive immune response;GO:0050860 negative regulation of T cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "P18627-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VH5-1", "uniprot_id": [ { "id": "LRRT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VH5", "type": "external" } ], "mass": 65896.0, "length": 581, "protein_name": "Leucine-rich repeat transmembrane neuronal protein 3", "gene_name": "LRRTM3", "organism": "Human", "refseq_name": "leucine-rich repeat transmembrane neuronal protein 3 precursor", "refseq_ac": [ { "id": "NP_821079", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_821079", "type": "external" } ], "gene_names_uniprotkb": "LRRTM3; PRO1693", "gene_names_refseq": "LRRTM3", "protein_names_uniprotkb": "Leucine-rich repeat transmembrane neuronal protein 3", "protein_names_refseq": "leucine-rich repeat transmembrane neuronal protein 3 precursor; leucine-rich repeat transmembrane neuronal protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:347731); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "11604393;12676565;12975309;15540461;16242404;16624946;16846852;17098871;17897391;18812509;18829961;19105203;20064387;20064388;20519524;20678249;21282647;21598020;22393166;22710909;23750206;24463050;25378172;25645385;28904123;29351928;31092671;35051231;7695896;7736595;8576240;9069287;9808458;9927700", "class_list": "", "function": "An ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3 in Alzheimer disease. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Apart from the complexity of its regulation, alterations in both CTNNA3 and LRTMM3 are implicated in human disease. Review article, [RefSeq, PubMed]; Data suggest that LRRTM3 is a functional and positional candidate gene for Alzheimer disease, and, given its receptor-like structure and restricted expression, a potential therapeutic target., [RefSeq, PubMed]; Exhibits a limited synaptogenic activity in vitro, restricted to excitatory presynaptic differentiation (By similarity). May play a role in the development and maintenance of the vertebrate nervous system., [UniProtKB]; LRRTM3 is not an essential regulator of amyloid-beta production in adult mice; there are no differences in genotype between levels of Abeta or Abeta protein precursor C-terminal fragments in vivo., [RefSeq, PubMed]; LRRTM3 polymorphisms may play a role in the pathogenesis of late-onset Alzheimer's disease (LOAD) in a Northern Han Chinese population., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; One single-nucleotide polymorphism in the promoter region and a block of 4 single-nucleotide polymorphisms in intron 2 were associated with AD in the National Institute on Aging Late-Onset Alzheimer's Disease data set or the Caribbean Hispanic data set., [RefSeq, PubMed]; Protein interactions between LRRTM3, APP and BACE1, as well as complex associations between mRNA levels of LRRTM3, CTNNA3, APP and BACE1 in humans might influence APP metabolism and ultimately risk of AD Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K2A3;Q2NKX7;Q6N0A3", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:1902004 positive regulation of amyloid-beta formation;GO:0051965 positive regulation of synapse assembly;GO:1905606 regulation of presynapse assembly", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q86VH5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJQ1-1", "uniprot_id": [ { "id": "LAMP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJQ1", "type": "external" } ], "mass": 31472.0, "length": 280, "protein_name": "Lysosome-associated membrane glycoprotein 5", "gene_name": "LAMP5", "organism": "Human", "refseq_name": "lysosome-associated membrane glycoprotein 5 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001186826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186826", "type": "external" } ], "gene_names_uniprotkb": "LAMP5; C20orf103", "gene_names_refseq": "BAD-LAMP; BADLAMP; C20orf103; LAMP-5; LAMP5; UNC-46", "protein_names_uniprotkb": "Lysosome-associated membrane glycoprotein 5; BAD-LAMP; Brain and dendritic cell-associated LAMP; Brain-associated LAMP-like protein; LAMP-5; Lysosome-associated membrane protein 5", "protein_names_refseq": "LAMP family protein C20orf103; brain and dendritic cell-associated LAMP; brain-associated LAMP-like protein; lysosomal associated membrane protein family member 5; lysosome-associated membrane glycoprotein 5 isoform 2 precursor; lysosome-associated membrane glycoprotein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:24141)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "21642595;28832583;29030552;29242379;29508533;30429286;30651276;31844290;32350084;32502341;33392160;33936100;35051231;35154160;35226222;36284347", "class_list": "", "function": "BAD-LAMP (LAMP5)-silencing enhances TLR9 retention in endolysosome compartment and consequent downstream signalling events. Publication Status: Online-Only, [RefSeq, PubMed]; High LAMP5 expression is associated with Leukemia., [RefSeq, PubMed]; Lysosomal-associated membrane protein family member 5 promotes the metastatic potential of gastric cancer cells., [RefSeq, PubMed]; Plays a role in short-term synaptic plasticity in a subset of GABAergic neurons in the brain., [UniProtKB, UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "risk", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DHZ7;B7Z9Z9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0032584 growth cone membrane;GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0072594 establishment of protein localization to organelle;GO:0099171 presynaptic modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9UJQ1-1", "record_type": "protein", "filter_code": "0000100.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NDZ8-1", "uniprot_id": [ { "id": "MB3L4_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NDZ8", "type": "external" } ], "mass": 23121.0, "length": 208, "protein_name": "Methyl-CpG-binding domain protein 3-like 4", "gene_name": "MBD3L4", "organism": "Human", "refseq_name": "methyl-CpG-binding domain protein 3-like 4", "refseq_ac": [ { "id": "NP_001157891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157891", "type": "external" } ], "gene_names_uniprotkb": "MBD3L4", "gene_names_refseq": "MBD3L4", "protein_names_uniprotkb": "Methyl-CpG-binding domain protein 3-like 4; MBD3-like protein 4", "protein_names_refseq": "MBD3-like 4; MBD3-like protein 4; Putative methyl-CpG-binding domain protein 3-like 4; methyl-CpG-binding domain protein 3-like 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:653656)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "This gene encodes a member of a family of proteins that are related to methyl-CpG-binding proteins but lack the methyl-CpG binding domain. There is no definitive support for transcription of this locus, and the transcript structure is inferred from other family members. [provided by RefSeq, Aug 2009]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008327 methyl-CpG binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006346 DNA methylation-dependent constitutive heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NDZ8-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NE82-1", "uniprot_id": [ { "id": "MB3L3_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NE82", "type": "external" } ], "mass": 23095.0, "length": 208, "protein_name": "Methyl-CpG-binding domain protein 3-like 3", "gene_name": "MBD3L3", "organism": "Human", "refseq_name": "methyl-CpG-binding domain protein 3-like 3", "refseq_ac": [ { "id": "NP_001157897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157897", "type": "external" } ], "gene_names_uniprotkb": "MBD3L3", "gene_names_refseq": "MBD3L3", "protein_names_uniprotkb": "Methyl-CpG-binding domain protein 3-like 3; MBD3-like protein 3", "protein_names_refseq": "MBD3-like 3; MBD3-like protein 3; Putative methyl-CpG-binding domain protein 3-like 3; methyl-CpG-binding domain protein 3-like 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:653657)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008327 methyl-CpG binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006346 DNA methylation-dependent constitutive heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NE82-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NJ08-1", "uniprot_id": [ { "id": "MB3L5_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NJ08", "type": "external" } ], "mass": 22976.0, "length": 208, "protein_name": "Methyl-CpG-binding domain protein 3-like 5", "gene_name": "MBD3L5", "organism": "Human", "refseq_name": "methyl-CpG-binding domain protein 3-like 5", "refseq_ac": [ { "id": "NP_001129979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129979", "type": "external" } ], "gene_names_uniprotkb": "MBD3L5", "gene_names_refseq": "MBD3L5", "protein_names_uniprotkb": "Methyl-CpG-binding domain protein 3-like 5; MBD3-like protein 5", "protein_names_refseq": "MBD3-like protein 5; methyl-CpG-binding domain protein 3-like 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:284428)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008327 methyl-CpG binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006346 DNA methylation-dependent constitutive heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NJ08-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MXT2-1", "uniprot_id": [ { "id": "MAGBH_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MXT2", "type": "external" } ], "mass": 37578.0, "length": 336, "protein_name": "Melanoma-associated antigen B17", "gene_name": "MAGEB17", "organism": "Human", "refseq_name": "melanoma-associated antigen B17", "refseq_ac": [ { "id": "NP_001264236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264236", "type": "external" } ], "gene_names_uniprotkb": "MAGEB17", "gene_names_refseq": "MAGEB17", "protein_names_uniprotkb": "Melanoma-associated antigen B17", "protein_names_refseq": "melanoma antigen family B, 17 (pseudogene); melanoma antigen family B17; melanoma-associated antigen B17", "tax_id": 9606, "disease": "", "pathway": " (hsa:645864)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "29557506;30379171;34087483", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NE98", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A8MXT2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60307-1", "uniprot_id": [ { "id": "MAST3_HUMAN", "url": "https://www.uniprot.org/uniprot/O60307", "type": "external" } ], "mass": 143137.0, "length": 1309, "protein_name": "Microtubule-associated serine/threonine-protein kinase 3", "gene_name": "MAST3", "organism": "Human", "refseq_name": "microtubule-associated serine/threonine-protein kinase 3 isoform 20", "refseq_ac": [ { "id": "NP_055831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055831", "type": "external" } ], "gene_names_uniprotkb": "MAST3; KIAA0561", "gene_names_refseq": "DEE108; MAST3", "protein_names_uniprotkb": "Microtubule-associated serine/threonine-protein kinase 3; 2.7.11.1", "protein_names_refseq": "microtubule-associated serine/threonine-protein kinase 3 isoform 20; microtubule-associated serine/threonine-protein kinase 3", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 108 (Disease Ontology:DOID:0070394)", "pathway": " (hsa:23031)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "11237011;15951562;17344846;18650832;18669648;18767875;19369195;19413330;19690332;20058876;23186163;24366607;24397554;24714562;24715725;25418920;26154972;26728094;26811146;26992070;27846572;27920218;28063628;28167675;28218747;28228285;28510447;28514659;28613156;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;30192525;30315122;30429286;30524438;30779550;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32265295;32357974;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33912179;33968037;34185323;34185709;34854396;35051231;35095415;35251023;35494241;35580925;36010968;36241641;36284347", "class_list": "", "function": "A single-nucleotide polymorphism (SNP)located in the second intron of the MAST3 gene is found to be associated in the screening and replication inflammatory bowel disease cohorts., [RefSeq, PubMed]; MiR-125a-3p inhibits cell proliferation and inflammation responses in fibroblast-like synovial cells in rheumatoid arthritis by mediating the Wnt/beta-catenin and NF-kappaB pathways via targeting MAST3., [RefSeq, PubMed]; Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy., [RefSeq, PubMed]; Serine/threonine kinase that phosphorylates ARPP19 at 'Ser-62', resulting in protein phosphatase 2A (PP2A) inhibition by ARPP19., [UniProtKB, PubMed, PubMed]; Together, the results suggest a complex antagonistic interplay between the control of ARPP-16 by MAST3 and PKA that creates a mechanism whereby cAMP mediates PP2A disinhibition. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q7LDZ8;Q9UPI0", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0007010 cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "O60307-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04201-1", "uniprot_id": [ { "id": "MAS_HUMAN", "url": "https://www.uniprot.org/uniprot/P04201", "type": "external" } ], "mass": 37465.0, "length": 325, "protein_name": "Proto-oncogene Mas", "gene_name": "MAS1", "organism": "Human", "refseq_name": "proto-oncogene Mas", "refseq_ac": [ { "id": "NP_002368", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002368", "type": "external" } ], "gene_names_uniprotkb": "MAS1; MAS", "gene_names_refseq": "MAS1; MAS; MGRA", "protein_names_uniprotkb": "Proto-oncogene Mas", "protein_names_refseq": "MAS1 oncogene; Mas-related G protein-coupled receptor A; proto-oncogene Mas", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); primary biliary cholangitis (Disease Ontology:DOID:12236); dilated cardiomyopathy (Disease Ontology:DOID:12930); glaucoma (Disease Ontology:DOID:1686); congestive heart failure (Disease Ontology:DOID:6000); chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:4142); (R-HSA-375276)", "pathway_count": 2, "publication_count": 108, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11322507;11385580;11457843;11562423;11683476;11773063;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15809376;15947423;1655761;16611642;1710450;1710578;1719979;1722333;17984366;18127230;1847994;22003054;23446738;23690594;24906252;25967876;26460884;2649896;27496565;28218747;30620550;3202875;32502341;33392160;3366244;33936100;3419518;3525564;3708691;38061417;38350725;3856870;41167449;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Activation of Mas during myocardial infarction contributes to ischemia-reperfusion injury and suggest that inhibition of Mas-G(q) signaling may provide a new therapeutic strategy directed at cardioprotection., [RefSeq, PubMed]; G protein-coupled receptor that plays key roles in the renin-angiotensin system (RAS) specifically in the protective, counter-regulatory arm of the RAS (PubMed:25967876). Receptor mainly stimulated by angiotensin 1-7, which is a bioactive metabolite of the angiotensin produced by ACE2 (PubMed:17984366). Activation promotes nitric oxide via PI3K/Akt-eNOS pathway (PubMed:17984366). Modulates also the MAPK, ERK1/2, and NF-kappa-B signaling (PubMed:25967876). Positive regulation of AGTR1 levels occurs through activation of the G proteins GNA11 and GNAQ, and stimulation of the protein kinase C signaling cascade (PubMed:15809376, PubMed:16611642). The antagonist effect on AGTR1 function is probably due to AGTR1 being physically altered by MAS1 (PubMed:15809376, PubMed:16611642). Acts as functional receptor for CXCL17 and induces chemotactic movement (PubMed:41167449)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Myeloid-Mas Signaling Modulates Pathogenic Crosstalk among MYC[+]CD63[+] Endothelial Cells, MMP12[+] Macrophages, and Monocytes in Acetaminophen-Induced Liver Injury., [RefSeq, PubMed]; Regulation of vascular angiotensin II type 1 and type 2 receptor and angiotensin-(1-7)/MasR signaling in normal and hypertensive pregnancy. Review article, [RefSeq, PubMed]; This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospholipase C signaling pathway. The encoded protein may play a role in multiple processes including hypotension, smooth muscle relaxation and cardioprotection by mediating the effects of angiotensin-(1-7). [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "E1P5B3;Q2TBC9;Q6FG47", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0004945 angiotensin type II receptor activity;GO:0042277 peptide binding;GO:0001595 angiotensin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0016477 cell migration;GO:0070098 chemokine-mediated signaling pathway;GO:0002033 angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "P04201-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09960-1", "uniprot_id": [ { "id": "LKHA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P09960", "type": "external" } ], "mass": 69285.0, "length": 611, "protein_name": "Leukotriene A-4 hydrolase", "gene_name": "LTA4H", "organism": "Human", "refseq_name": "leukotriene A-4 hydrolase isoform 1", "refseq_ac": [ { "id": "NP_000886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000886", "type": "external" } ], "gene_names_uniprotkb": "LTA4H; LTA4", "gene_names_refseq": "LTA4H", "protein_names_uniprotkb": "Leukotriene A-4 hydrolase; 3.3.2.6; 3.4.11.4; LTA-4 hydrolase; Leukotriene A(4) hydrolase; Tripeptide aminopeptidase LTA4H", "protein_names_refseq": "LTA-4 hydrolase; leukotriene A-4 hydrolase isoform 1; leukotriene A-4 hydrolase; testicular secretory protein Li 27; tripeptide aminopeptidase LTA4H", "tax_id": 9606, "disease": "squamous cell carcinoma (Disease Ontology:DOID:1749); asthma (Disease Ontology:DOID:2841); adenocarcinoma (Disease Ontology:DOID:299)", "pathway": " (hsa:4048); (R-HSA-2142691); (R-HSA-6798695); (R-HSA-9018676); (R-HSA-9018681); (R-HSA-9018896); (R-HSA-9020265); (R-HSA-9023661)", "pathway_count": 8, "publication_count": 165, "publication_id_list": "10.1101/2023.09.13.557529;10064732;10779545;11175901;11675384;11844797;11917124;12207002;12391014;12590139;1357660;1359745;15078870;1516710;15604543;16408927;16424216;16757471;16795963;17114001;17244615;18184802;18292578;1848634;18507432;18647347;18767875;18804029;1881903;1897988;19608861;19618939;19743890;1975494;19818771;19865173;20068231;20436887;20813919;21206090;21447318;21867913;22223895;22275352;2244921;22450811;23076889;23293324;23301498;23438748;23650620;23956430;24366607;24591641;25247845;25576301;25880248;26743932;26758079;26992070;27046942;27452731;2753893;27600516;2768222;27846572;27862975;2821541;28218747;28228285;2836406;28510447;28514659;2864155;2866075;2877850;2882965;28832583;28834231;28904123;28980694;29133059;29242379;29314611;29331515;29351928;29437277;29493099;29508533;29557506;29632711;29786170;29789417;2995393;2996528;3006030;3020588;30315122;30397120;30410026;30429286;30669;30779550;30833945;31020640;3118366;31217245;31530632;3164719;31844290;31848261;32119511;32157095;32161166;32350084;32357974;32502341;32897882;32938616;32983136;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34433824;34694182;34725712;34932366;35051231;35138101;35154160;35318648;35561310;35580925;3563417;36241641;36284347;3654641;36879040;36923505;37086004;37938771;38300441;38665916;3933675;40596516;6122208;6293969;6490615;7628486;7667299;7937884;8052639;8394361;8576264;8615763;8692836;9395533;9461497", "class_list": "", "function": "Bifunctional zinc metalloenzyme that comprises both epoxide hydrolase (EH) and aminopeptidase activities. Acts as an epoxide hydrolase to catalyze the conversion of LTA4 to the pro-inflammatory mediator leukotriene B4 (LTB4) (PubMed:11917124, PubMed:12207002, PubMed:15078870, PubMed:18804029, PubMed:1897988, PubMed:1975494, PubMed:2244921, PubMed:2996528). Can utilize LTA5 less effectively as a substrate than LTA4, and produce LTB5 (PubMed:2996528). Also has aminopeptidase activity, with high affinity for N-terminal arginines of various synthetic tripeptides (PubMed:18804029, PubMed:20813919). In addition to its pro-inflammatory EH activity, may also counteract inflammation by its aminopeptidase activity, which inactivates by cleavage another neutrophil attractant, the tripeptide Pro-Gly-Pro (PGP), a bioactive fragment of collagen generated by the action of matrix metalloproteinase-9 (MMP9) and prolylendopeptidase (PREPL) (PubMed:20813919, PubMed:24591641). Involved also in the biosynthesis of resolvin E1 and 18S-resolvin E1 from eicosapentaenoic acid, two lipid mediators that show potent anti-inflammatory and pro-resolving actions (PubMed:21206090)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Clinical Implications of LTA4H Genetic Polymorphism in Patients with Chronic Obstructive Pulmonary Disease., [RefSeq, PubMed]; Inhibition of Leukotriene A4 Hydrolase Suppressed Cartilage Degradation and Synovial Inflammation in a Mouse Model of Experimental Osteoarthritis., [RefSeq, PubMed]; LTA4H extensively associates with mRNAs and lncRNAs indicative of its novel regulatory targets. Publication Status: Online-Only, [RefSeq, PubMed]; Leukotriene A4 hydrolase (LTA4H rs17525495) gene polymorphisms and paradoxical reactions in extrapulmonary tuberculosis. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting LTA4H facilitates the reshaping of the immune microenvironment mediated by CCL5 and sensitizes ovarian cancer to Cisplatin., [RefSeq, PubMed]; The protein encoded by this gene is an enzyme that contains both hydrolase and aminopeptidase activities. The hydrolase activity is used in the final step of the biosynthesis of leukotriene B4, a proinflammatory mediator. The aminopeptidase activity has been shown to degrade proline-glycine-proline (PGP), a neutrophil chemoattractant and biomarker for chronic obstructive pulmonary disease (COPD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 32, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DNQ9;F8VV40;Q6IAT6;Q9UCT7", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "1.13.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-", "type": "external" }, { "id": "1.13.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.34", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { 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"id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": 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"id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.1.1.348", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.348", "type": "external" }, { "id": "2.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.9", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0004177 aminopeptidase activity;GO:0004301 epoxide hydrolase activity;GO:0070006 metalloaminopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:1904813 ficolin-1-rich granule lumen", "go_biological_process": "GO:0006508 proteolysis;GO:0006629 lipid metabolic process;GO:0010043 response to zinc ion;GO:0043171 peptide catabolic process;GO:0019370 leukotriene biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "P09960-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21941-1", "uniprot_id": [ { "id": "MATN1_HUMAN", "url": "https://www.uniprot.org/uniprot/P21941", "type": "external" } ], "mass": 53701.0, "length": 496, "protein_name": "Matrilin-1", "gene_name": "MATN1", "organism": "Human", "refseq_name": "matrilin-1 precursor", "refseq_ac": [ { "id": "NP_002370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002370", "type": "external" } ], "gene_names_uniprotkb": "MATN1; CMP; CRTM", "gene_names_refseq": "CMP; CRTM; MATN1", "protein_names_uniprotkb": "Matrilin-1; Cartilage matrix protein", "protein_names_refseq": "matrilin 1, cartilage matrix protein; matrilin-1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:4146); (R-HSA-3000178)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10022829;10339611;10673326;11084047;11259413;12225811;1376317;14715956;15075323;15296743;1544908;16293224;16493581;17588949;2059554;20729554;21642437;21789315;22134916;2246248;2364322;2412224;2420006;2430969;24469715;24692560;29393594;29407503;30358852;32983136;35494241;35580925;6193777;6439184;7499434;7527058;7542669;7559467;7685013;7693733;7852349;8002934;8440685;8798654;8943283;9252349;9294172;9341124;9346959;9685393;9949188", "class_list": "", "function": "A major component of the extracellular matrix of non-articular cartilage (By similarity). Binds to type 2 collagens and forms long concatenated protein networks as part of the extracellular matrix (By similarity). Required for the network-like organization and bundling of collagen fibrils surrounding chondrocytes in the zones of maturation and hypertrophy (By similarity). Required for mechanotransduction and adaption to mechanical loading in cartilage chondrocytes, resulting in an increase in expression of the extracellular matrix components ACAN and COL2A1 (By similarity). Acts as a moderator of angiogenesis in response to injury (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Matrilin-1 is an inhibitor of neovascularization, [RefSeq, PubMed]; Polymorphisms associated with mandibular retrognathism, [RefSeq, PubMed]; This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]., [RefSeq]; This meta-analysis found an overall significant association of rs1149048 polymorphism with risk of AIS, especially in Asian population., [RefSeq, PubMed]; We identified two candidate mutations in COL1A2 and MATN1, which might be affected by the main known mutation in B3GALT6. Our finding replicated a previously identified mutation in KIF22 to be potentially associated with spondyloepimetaphyseal dysplasia with joint laxity. We also show that our identified candidate mutation genes, COL1A2, MATN1 and KIF22, are in a direct biological interaction with B3GALT6., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R7E3;Q5TBB9", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "P21941-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P32245-1", "uniprot_id": [ { "id": "MC4R_HUMAN", "url": "https://www.uniprot.org/uniprot/P32245", "type": "external" } ], "mass": 36943.0, "length": 332, "protein_name": "Melanocortin receptor 4", "gene_name": "MC4R", "organism": "Human", "refseq_name": "melanocortin receptor 4", "refseq_ac": [ { "id": "NP_005903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005903", "type": "external" } ], "gene_names_uniprotkb": "MC4R", "gene_names_refseq": "BMIQ20; MC4R", "protein_names_uniprotkb": "Melanocortin receptor 4; MC4-R", "protein_names_refseq": "MC4-R; melanocortin receptor 4; mutant melanocortin-4 receptor", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); sciatic neuropathy (Disease Ontology:DOID:11446); morbid obesity (Disease Ontology:DOID:11981); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); anxiety disorder (Disease Ontology:DOID:2030); morphine dependence (Disease Ontology:DOID:2560); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:4160); (R-HSA-375276); (R-HSA-418555); (R-HSA-9856649)", "pathway_count": 4, "publication_count": 222, "publication_id_list": "10079109;10100623;10199800;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567402;10604470;10611221;10655586;10673502;10854085;10899166;11007482;11027551;11322507;11385580;11443223;11457843;11487744;11562423;11683476;11773063;11840323;11891324;11912130;11930005;12036966;12058044;12106601;12180353;12427552;12540846;12588803;12639913;12646665;12719537;1280419;12860470;12956774;12970296;1314587;1317848;1325670;1337145;1346068;13549488;14463577;14550283;14573733;14671004;14671178;14764818;14975237;15118077;15139756;1517224;15226305;15486053;15507434;15539556;1567413;15765929;15769620;15947423;15951850;16014379;16034366;16313925;1655761;16687412;16822840;16923326;1698554;1710450;1710578;17168849;1719979;1722333;1748288;17623675;18044684;18127230;1847994;18577758;18644867;19105585;19329486;19524539;19608861;19737927;19876791;19929708;20381629;20460180;21036126;21486943;2163110;21965087;22647378;23088915;23159739;23190890;23207919;23446738;23690594;2417744;24687066;24906252;2491850;25163632;25248477;2553411;2553705;25595898;26417854;2649896;27128622;27496565;28394346;2871555;29295999;29311635;29443750;29602314;29769354;30804224;30833991;31002796;3127824;31279028;31399091;31983287;3202875;32226383;32327598;32497535;32540603;32618402;32636443;32715661;33049737;33592498;3366244;33744299;33858992;34140478;3525564;37770430;38197679;38528040;3856870;39034913;39062808;39562740;39951488;41102563;5338216;6085243;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7854347;7905839;7958932;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8336698;8340388;8373420;8381365;8383682;8392067;8395824;8440682;8463333;8503909;8514797;8615752;8666380;8672451;8702752;873923;8823230;9171878;9199364;9263355;9311920;9353119;9417641;9440696;9521323;9530155;9560246;9593744;9607765;9651336;9676189;9685625;9722565;9760192;9792798;9832121;9851594;9973413", "class_list": "", "function": "Evaluation of the role of FTO (rs9939609) and MC4R (rs17782313) gene polymorphisms in type 1 diabetes and their relation to obesity. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor that binds melanocyte-stimulating hormones (alpha- and beta-MSH) and corticotropin/ACTH, which are peptide products of the POMC precursor (PubMed:12646665, PubMed:14764818, PubMed:25163632, PubMed:32327598, PubMed:33858992, PubMed:8392067). Functions as a central component of the leptin-melanocortin pathway, which is essential for maintaining energy homeostasis (PubMed:32327598, PubMed:33858992). Upon activation, couples to G(s) protein, stimulating adenylate cyclase and the cAMP-dependent signaling pathway, which promotes anorexogenic signaling in the hypothalamus and contributes to a negative energy balance (PubMed:12588803, PubMed:14764818, PubMed:25163632, PubMed:33858992). Regulates food intake: activation by agonists suppresses appetite, whereas the antagonist Agouti-related protein/AGRP precludes agonist-induced signaling, thereby stimulating appetite (PubMed:9311920, PubMed:29311635). Modulates the firing activity of neurons in paraventricular nucleus (PVN) of the hypothalamus via alpha-MSH and AGRP regulation of inwardly rectifying potassium channel KCNJ13 closure, independently of G(s) signaling (PubMed:32327598). In the PVN, also interacts with opsin 3/OPN3, which couples to G(i/o) proteins to inhibit MC4R-mediated cAMP signaling, thereby promoting food intake (PubMed:39951488). In intestinal epithelial cells, contributes to inhibition of hepatic glucose production via nesfatin-1/NUCB2, leading to increased cAMP levels and glucagon-like peptide 1 (GLP-1) secretion (PubMed:39562740). Interaction with MGRN1 displaces the G(s) protein, further decreasing MC4R signaling activity (PubMed:19737927). Also activated by gamma-MSH, though with low potency (PubMed:8392067)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Melanocortin-4 Receptor PLC Activation Is Modulated by an Interaction with the Monocarboxylate Transporter 8. Publication Status: Online-Only, [RefSeq, PubMed]; The Association between Obesity Susceptibility and Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans., [RefSeq, PubMed]; The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010]., [RefSeq]; Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RAC3;Q16317;Q3MIJ6", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0004977 melanocortin receptor activity;GO:0004978 corticotropin receptor activity;GO:0042923 neuropeptide binding;GO:0004980 melanocyte-stimulating hormone receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0098804 non-motile cilium membrane", "go_biological_process": "GO:2000252 negative regulation of feeding behavior;GO:1903998 regulation of eating behavior;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway;GO:0045780 positive regulation of bone resorption", "synthesized_glycan_count": 0, "hit_score": 22.3, "record_id": "P32245-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41968-1", "uniprot_id": [ { "id": "MC3R_HUMAN", "url": "https://www.uniprot.org/uniprot/P41968", "type": "external" } ], "mass": 36043.0, "length": 323, "protein_name": "Melanocortin receptor 3", "gene_name": "MC3R", "organism": "Human", "refseq_name": "melanocortin receptor 3", "refseq_ac": [ { "id": "NP_063941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_063941", "type": "external" } ], "gene_names_uniprotkb": "MC3R", "gene_names_refseq": "BMIQ9; MC3-R; MC3R; MC3; OB20; OQTL", "protein_names_uniprotkb": "Melanocortin receptor 3; MC3-R", "protein_names_refseq": "melanocortin receptor 3; obesity quantitative trait locus", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970); obsolete body mass index quantitative trait locus 9 (MONDO:MONDO:0044272)", "pathway": " (hsa:4159); (R-HSA-375276); (R-HSA-418555); (R-HSA-9856649)", "pathway_count": 4, "publication_count": 203, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567402;10604470;10611221;10655586;10673502;10854085;10899166;11007482;11027551;11322507;11385580;11457843;11562423;11683476;11773063;11840323;11889220;11891324;11912130;11930005;12036966;12058044;12106601;12180353;12427552;12540846;12719537;1280419;12860470;12956774;1314587;1317848;1325670;1337145;1346068;13549488;14463577;14550283;14573733;14671004;14975237;15118077;15139756;1517224;15226305;15292330;15507434;15539556;1567413;15765929;15769620;15947423;15951850;16014379;16034366;16313925;1655761;16687412;16822840;16923326;1698554;1710450;1710578;17168849;1719979;1722333;1748288;17623675;18044684;18127230;18231126;1847994;18577758;18644867;19105585;19524539;19608861;19876791;19929708;20381629;20460180;21036126;21486943;2163110;21965087;22433616;22647378;23159739;23190890;23207919;23446738;23690594;2417744;24366607;24687066;24906252;2491850;25248477;2553411;2553705;25595898;26417854;2649896;27128622;27496565;28394346;2871555;29295999;29443750;29602314;30804224;30833991;3127824;31279028;31399091;31983287;3202875;32226383;32497535;32540603;32618402;32636443;32715661;32938616;33049737;3366244;33744299;34140478;3525564;37369769;37524700;37716291;37770430;37820740;3856870;5338216;6085243;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7958932;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8336698;8340388;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8514797;8615752;8666380;8672451;8702752;873923;8823230;9171878;9199364;9263355;9311920;9353119;9417641;9440696;9521323;9530155;9560246;9593744;9607765;9651336;9676189;9685625;9722565;9760192;9792798;9832121;9851594;9973413", "class_list": "", "function": "Evaluation of the MC3R gene pertaining to body weight and height regulation and puberty development. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor for melanocyte-stimulating hormones (alpha, beta, and gamma-MSH) and corticotropin/ACTH, which are peptide products of the POMC precursor (PubMed:37524700, PubMed:8463333). Upon activation, couples to G(s) protein, stimulating adenylate cyclase and the cAMP-dependent signaling pathway, which contributes to the regulation of energy homeostasis (PubMed:18231126, PubMed:37524700, PubMed:8463333). Required for expression of anticipatory patterns of activity and wakefulness during periods of limited nutrient availability and for the normal regulation of circadian clock activity in the brain (By similarity). Binding of the Agouti-related protein/AGPR antagonist precludes alpha-MSH-induced signaling, blocking cAMP production (PubMed:9311920)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on metabolic and inflammatory status and food intake in Brazilian adults: An exploratory pilot study., [RefSeq, PubMed]; MC3R mutation might be genetic factor that confers susceptibility to obesity, likely due to haploinsufficiency. We identify a residue that is critical for activation of G protein-coupled receptors., [RefSeq, PubMed]; Novel Melanocortin-3 and -4 Receptor Functional Variants in Asian Children With Severe Obesity., [RefSeq, PubMed]; This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q4KN27;Q9H517", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0017046 peptide hormone binding;GO:0004977 melanocortin receptor activity;GO:0004978 corticotropin receptor activity;GO:0042923 neuropeptide binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0008217 regulation of blood pressure;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0060259 regulation of feeding behavior", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "P41968-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48163-1", "uniprot_id": [ { "id": "MAOX_HUMAN", "url": "https://www.uniprot.org/uniprot/P48163", "type": "external" } ], "mass": 64150.0, "length": 572, "protein_name": "NADP-dependent malic enzyme", "gene_name": "ME1", "organism": "Human", "refseq_name": "NADP-dependent malic enzyme", "refseq_ac": [ { "id": "NP_002386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002386", "type": "external" } ], "gene_names_uniprotkb": "ME1", "gene_names_refseq": "HUMNDME; ME1; MES", "protein_names_uniprotkb": "NADP-dependent malic enzyme; 1.1.1.40; Malic enzyme 1; NADP-ME", "protein_names_refseq": "Malic enzyme, cytoplasmic; NADP-ME; NADP-dependent malic enzyme; malate dehydrogenase (oxaloacetate-decarboxylating) (NADP(+)); malic enzyme 1, NADP(+)-dependent, cytosolic; malic enzyme 1, soluble; pyruvic-malic carboxylase", "tax_id": 9606, "disease": "", "pathway": " (hsa:4199); (R-HSA-1989781); (R-HSA-70268); (R-HSA-9818025); (R-HSA-9861718)", "pathway_count": 5, "publication_count": 123, "publication_id_list": "10777541;11267664;11276087;11325844;11377399;11863375;11945601;12118000;12121650;12177166;12234984;12505311;12582161;12962632;14596586;15067378;15130092;15551868;15635043;15870898;16380219;16972786;18351441;18387606;18540824;18719978;18848529;19088433;1931970;1935931;19679512;19710929;19934321;1993674;1996957;20110263;21156174;21775727;22499340;22544926;22628558;22789539;23284632;24196956;2440048;24715725;24998673;25202825;25575590;25576301;25594249;25880248;26154972;26992070;27090790;27166188;27317664;27621679;27846572;27920218;28510447;28514659;28832583;28855257;28904123;29242379;29472561;29911972;30315122;30418433;30429286;30833945;31221981;31735643;31844290;31989830;32161166;32284348;32350084;32357974;32387766;32403431;32582032;32649885;32938616;33064660;33141586;33298915;33462636;33592498;33619771;33751897;33912179;33968037;34211107;3435492;34509645;34965422;35051231;35251023;35318648;35580925;35727698;36010968;36215666;36241641;36417180;37410361;38665916;4822737;7622060;7685352;7757881;7818469;7892212;8187880;8647822;8726225;8804575;9012850;9119391;9705294;9748239", "class_list": "", "function": "Adaptive and Constitutive Activations of Malic Enzymes Confer Liver Cancer Multilayered Protection Against Reactive Oxygen Species., [RefSeq, PubMed]; Catalyzes the oxidative decarboxylation of (S)-malate in the presence of NADP(+) and divalent metal ions, and decarboxylation of oxaloacetate., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Cytosolic malic enzyme and glucose-6-phosphate dehydrogenase modulate redox balance in NSCLC with acquired drug resistance., [RefSeq, PubMed]; MiR-885-5p Inhibits Invasion and Metastasis in Gastric Cancer by Targeting Malic Enzyme 1., [RefSeq, PubMed]; Targeting Ferroptosis Vulnerability in Synovial Sarcoma: Is It All About ME1?, [RefSeq, PubMed]; This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DZ70;Q16797;Q16855;Q53F72;Q5VWA2;Q9BWX8;Q9H1W3;Q9UIY4", "ec_number_list": [ { "id": "1.1.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.38", "type": "external" }, { "id": "1.1.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.40", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.7.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.7.1.5", "type": "external" }, { "id": "4.1.1.112", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.112", "type": "external" }, { "id": "5.3.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.2", "type": "external" }, { "id": "2.1.1.319", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" } ], "go_molecular_function": "GO:0008948 oxaloacetate decarboxylase activity;GO:0000287 magnesium ion binding;GO:0009055 electron transfer activity;GO:0030145 manganese ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006739 NADP+ metabolic process;GO:0051289 protein homotetramerization;GO:0005975 carbohydrate metabolic process;GO:0019674 NAD+ metabolic process;GO:0009725 response to hormone", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "P48163-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55344-1", "uniprot_id": [ { "id": "LMIP_HUMAN", "url": "https://www.uniprot.org/uniprot/P55344", "type": "external" } ], "mass": 19674.0, "length": 173, "protein_name": "Lens fiber membrane intrinsic protein", "gene_name": "LIM2", "organism": "Human", "refseq_name": "lens fiber membrane intrinsic protein isoform 2", "refseq_ac": [ { "id": "NP_001155220", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155220", "type": "external" } ], "gene_names_uniprotkb": "LIM2", "gene_names_refseq": "CTRCT19; LIM2; MP17; MP19", "protein_names_uniprotkb": "Lens fiber membrane intrinsic protein; MP18; MP19; MP20", "protein_names_refseq": "MP18; MP20; lens fiber membrane intrinsic protein isoform 2; lens fiber membrane intrinsic protein; lens intrinsic membrane protein 2, 19kDa", "tax_id": 9606, "disease": "cataract 19 multiple types (Disease Ontology:DOID:0110263); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:3982)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11917274;12107413;22103961;24715725;2584203;27814360;28860189;32202185;35736209;38178039;8137630", "class_list": "", "function": "A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract., [RefSeq, PubMed]; A novel missense mutation in LIM2 is responsible for autosomal recessive congenital cataracts. Publication Status: Online-Only, [RefSeq, PubMed]; A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family., [RefSeq, PubMed]; Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India. Publication Status: Online-Only, [RefSeq, PubMed]; Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis., [UniProtKB]; This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]., [RefSeq]; We report the absence of mutations in all studied genes in four families with phenotypes associating cataract, mental retardation and microcephaly. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 2, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6B083;Q9BXD0;Q9HAR5", "ec_number_list": [], "go_molecular_function": "GO:0005212 structural constituent of eye lens", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030054 cell junction;GO:0031982 vesicle", "go_biological_process": "GO:0007043 cell-cell junction assembly", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P55344-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010101.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P83369-1", "uniprot_id": [ { "id": "LSM11_HUMAN", "url": "https://www.uniprot.org/uniprot/P83369", "type": "external" } ], "mass": 39500.0, "length": 360, "protein_name": "U7 snRNA-associated Sm-like protein LSm11", "gene_name": "LSM11", "organism": "Human", "refseq_name": "U7 snRNA-associated Sm-like protein LSm11", "refseq_ac": [ { "id": "NP_775762", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775762", "type": "external" } ], "gene_names_uniprotkb": "LSM11", "gene_names_refseq": "AGS8; LSM11", "protein_names_uniprotkb": "U7 snRNA-associated Sm-like protein LSm11", "protein_names_refseq": "U7 snRNA-associated Sm-like protein LSm11", "tax_id": 9606, "disease": "Aicardi-Goutieres syndrome (Disease Ontology:DOID:0050629); Aicardi-Goutieres syndrome 8 (MONDO:MONDO:0030361)", "pathway": " (hsa:134353); (R-HSA-111367); (R-HSA-73856); (R-HSA-77588)", "pathway_count": 4, "publication_count": 28, "publication_id_list": "11574479;12975319;16087681;16714279;16914750;18669648;18767875;19651622;23071092;23186163;24715725;25880248;28832583;28904123;29242379;29493099;29632711;29769354;29786170;30784271;31530632;31819999;31844290;32265295;32938616;33230297;34171305;9049306", "class_list": "", "function": "CGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing., [RefSeq, PubMed]; Component of the U7 snRNP complex that is involved in the histone 3'-end pre-mRNA processing (PubMed:11574479, PubMed:16914750, PubMed:33230297). Increases U7 snRNA levels but not histone 3'-end pre-mRNA processing activity, when overexpressed (PubMed:11574479, PubMed:16914750). Required for cell cycle progression from G1 to S phases (By similarity). Binds specifically to the Sm-binding site of U7 snRNA (PubMed:11574479, PubMed:16914750)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; FLASH/Lsm11 complex bind a unique combination of polyadenylation factors, [RefSeq, PubMed]; Lsm10 and Lsm11, which replace the Sm proteins D1 and D2 in the histone RNA processing U7 snRNPs, associate with pICln in vitro and in vivo without receiving sDMA modifications and with PRMT5 and SMN complexes, [RefSeq, PubMed]; While the molecular basis for this altered cleavage activity is unknown, one possibility is that binding of Lsm10 and Lsm11 to the spliceosomal Sm site affects the overall geometry of the U7-specific Sm ring, resulting in misalignment of the CPSF73 endonuclease with the substrate., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AVQ1;Q7Z7P0;Q8N975", "ec_number_list": [], "go_molecular_function": "GO:0071209 U7 snRNA binding", "go_cellular_component": "GO:0071204 histone pre-mRNA 3'end processing complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0005697 telomerase holoenzyme complex", "go_biological_process": "GO:0036261 7-methylguanosine cap hypermethylation;GO:1900087 positive regulation of G1/S transition of mitotic cell cycle;GO:0006398 mRNA 3'-end processing by stem-loop binding and cleavage;GO:0071045 nuclear histone mRNA catabolic process;GO:1902275 regulation of chromatin organization", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P83369-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6B9Z1-1", "uniprot_id": [ { "id": "IGFL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6B9Z1", "type": "external" } ], "mass": 13885.0, "length": 124, "protein_name": "Insulin growth factor-like family member 4", "gene_name": "IGFL4", "organism": "Human", "refseq_name": "insulin growth factor-like family member 4 precursor", "refseq_ac": [ { "id": "NP_001002923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002923", "type": "external" } ], "gene_names_uniprotkb": "IGFL4", "gene_names_refseq": "IGFL4", "protein_names_uniprotkb": "Insulin growth factor-like family member 4", "protein_names_refseq": "insulin growth factor-like family member 4 precursor; insulin growth factor-like family member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:444882)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;16890402", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6B9Z1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QA5-1", "uniprot_id": [ { "id": "GSDMA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QA5", "type": "external" } ], "mass": 49365.0, "length": 445, "protein_name": "Gasdermin-A", "gene_name": "GSDMA", "organism": "Human", "refseq_name": "gasdermin-A", "refseq_ac": [ { "id": "NP_835465", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835465", "type": "external" } ], "gene_names_uniprotkb": "GSDMA; FKSG9; GSDM1; GSDM", "gene_names_refseq": "FKSG9; GSDM1; GSDMA; GSDM", "protein_names_uniprotkb": "Gasdermin-A; Gasdermin-1", "protein_names_refseq": "gasdermin-1; gasdermin-A", "tax_id": 9606, "disease": "lung adenocarcinoma (Disease Ontology:DOID:3910)", "pathway": " (hsa:284110)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10967128;11237011;15010812;17471240;19051310;19664994;20068231;24715725;26374642;27281216;30397120;31154438;31848261;35110732;35545676;35580925;36965577;37462807;37672204;38599239;38665916;39264808", "class_list": "", "function": "Evolutionary recombination hotspot around the GSDML-GSDM locus is closely linked to oncogenomic recombination hotspot around the PPP1R1B-STARD3-TCAP-PNMT-PERLD1-ERBB2-C17orf37-GRB7 amplicon at human chromosome 17q12., [RefSeq, PubMed]; Gasdermin A Is Required for Epidermal Cornification during Skin Barrier Regeneration and in an Atopic Dermatitis-Like Model., [RefSeq, PubMed]; Overexpressed FAM111B degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance., [RefSeq, PubMed]; Pore-forming protein that causes membrane permeabilization and pyroptosis (PubMed:17471240, PubMed:27281216, PubMed:35110732, PubMed:35545676). Released upon cleavage by S.pyogenes effector protein SpeB, and binds to membrane inner leaflet lipids (PubMed:27281216, PubMed:35110732, PubMed:35545676). Homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, triggering pyroptosis (PubMed:27281216, PubMed:35110732, PubMed:35545676). Pyroptosis triggers the elimination of the infected skin cell, depriving the pathogen of its protective niche, while inducing an inflammatory response (PubMed:35110732, PubMed:35545676). This ultimately prevents bacterial penetration of the epithelial barrier and a subsequent systemic dissemination of the pathogen (PubMed:35110732, PubMed:35545676). Binds to cardiolipin and other acidic phospholipids, such as phosphatidylserine, which mediate its targeting to the inner leaflet membrane (PubMed:27281216, PubMed:35110732)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Role of GSDM family members in airway epithelial cells of lung diseases: a systematic and comprehensive transcriptomic analysis., [RefSeq, PubMed]; Starvation-induced phosphorylation activates gasdermin A to initiate pyroptosis., [RefSeq, PubMed]; The present data suggest that TGF-beta, LMO1, possibly RUNX3, and GSDM form a regulatory pathway for directing the pit cells to apoptosis., [RefSeq, PubMed]; This form constitutes the precursor of the pore-forming protein and acts as a sensor of infection: upon infection by S.pyogenes, specifically cleaved by S.pyogenes effector protein SpeB in epithelial cells, releasing the N-terminal moiety (Gasdermin-A, N-terminal) that binds to membranes and forms pores, triggering pyroptosis., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q32MC5;Q86VE7;Q8N1M6", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0001786 phosphatidylserine binding;GO:0022829 wide pore channel activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0042742 defense response to bacterium;GO:0070269 pyroptotic inflammatory response;GO:0012501 programmed cell death", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q96QA5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0U4-1", "uniprot_id": [ { "id": "RAB1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0U4", "type": "external" } ], "mass": 22171.0, "length": 201, "protein_name": "Ras-related protein Rab-1B", "gene_name": "RAB1B", "organism": "Human", "refseq_name": "ras-related protein Rab-1B", "refseq_ac": [ { "id": "NP_112243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112243", "type": "external" } ], "gene_names_uniprotkb": "RAB1B", "gene_names_refseq": "RAB1B", "protein_names_uniprotkb": "Ras-related protein Rab-1B; 3.6.5.2", "protein_names_refseq": "ras-related protein Rab-1B; small GTP-binding protein", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:81876); (R-HSA-162658); (R-HSA-204005); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 7, "publication_count": 413, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10747087;10761932;10788476;10818110;10825291;10903204;10921873;10982397;10990452;11035026;11035033;11038176;11141079;11172815;11179213;11230166;11237011;11238451;11285137;11306556;11389151;11408587;11447212;11447294;11461920;11493604;11516400;11675392;11689439;11689559;11703925;11703931;11726511;11739401;11739780;11746448;11748249;11784320;11917121;11927603;12047556;12058051;12070132;12221131;12235121;12244319;12364329;12388752;12427552;12475894;12634853;12684051;12695496;12839990;12944476;12972505;14504276;14654841;14742712;15029241;15037235;15096524;15138286;1516130;15247254;15272311;15388334;15528189;15561770;15616190;15632110;15678101;15692570;15694364;15728195;15813748;15878329;15878873;15914536;15958533;16030262;16207721;16303754;1631136;16373702;16401880;16410077;1648736;16495487;16525024;16525121;16533948;16571673;16571679;16624868;16633337;16641372;16723730;16754960;1680566;16880209;16912714;16926190;16940185;16950109;17005010;17038314;17043139;17113389;17114793;17132146;17182854;17189207;17192411;17208202;17239822;17253781;17274799;17287728;17316621;17360540;17411337;17429068;17451557;17488286;17562788;17574030;17646400;17671165;17678623;17684057;17760859;17927562;17956946;18076383;18086915;18094055;18167358;18182008;18283113;18287528;18354496;18367545;18385516;18434598;1845915;18477474;18524849;18532927;18559336;18578522;18585354;18664496;18701652;18779367;18804435;18809720;18843296;1898986;1900457;19015319;1902553;19109418;19109890;19151722;19164740;19296914;19345684;19369418;19403694;19490898;1957170;19603039;19620288;19631211;19638414;19651986;19656848;19725050;19729655;19745841;19758564;20005805;20008558;20064470;20068231;20083603;20136777;20154091;20159109;20159556;20214750;20305638;20308558;20357002;20404108;20427317;20434987;20462495;20534429;20545907;20545908;20592283;20637885;20651120;20679433;20797862;20851765;20937701;20937827;20966969;21041651;2115402;21183348;21187289;21216617;21219331;21273506;21330364;21421921;21445324;21458671;21478858;21532587;21550981;21554507;21586568;21680813;21683469;21689688;21706022;21718402;21734656;21776405;21822290;21844168;21951725;22013193;22065758;22072793;22094269;22157747;22158903;22171327;22304919;22307087;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22675024;22694141;22705394;22726585;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23188820;23220125;23236136;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23396477;23420520;23444368;23478338;23479643;23645161;23678941;23684622;23698585;23713133;23839779;23864707;24023390;24119662;24296415;24644286;24694596;24719330;24806965;24891604;24917561;24967941;25074980;25202031;25341920;25343031;25364732;25406594;25436559;25472813;25492864;25586378;25619252;25648148;25713415;25925668;26055712;26177209;26209634;26245486;26434594;26538022;26925400;26936971;26969162;27041585;27044746;27103185;27246931;27329675;27552051;28467828;28904123;29317506;30315122;30429286;30833945;31154438;31217245;31848261;32227113;32974215;33043033;33592498;34019948;34185709;34357683;34433824;34725712;35154160;35251023;35580925;36010968;36241641;36606322;37075641;37076474;38220171;7688123;7691276;7737117;7844144;7911226;7957092;7991565;8001155;8128252;8132710;8144603;8164745;8221884;8253837;8349690;8375503;8408203;8505331;8513495;8522602;8620540;8631982;8636227;8662963;8663406;8836150;8863739;8991093;9020086;9020161;9030515;9094723;9114004;9136770;9150144;9177194;9244307;9288971;9307973;9323141;9323142;9380700;9382863;9405360;9437002;9490716;9590177;9647643;9671725;9733780;9751720;9753325;9990005", "class_list": "", "function": "Circ_RBM23 knockdown suppresses chemoresistance, proliferation, migration and invasion of sorafenib-resistant HCC cells through miR-338-3p/RAB1B axis., [RefSeq, PubMed]; Dephosphocholination by Legionella effector Lem3 functions through remodelling of the switch II region of Rab1b. Publication Status: Online-Only, [RefSeq, PubMed]; LINC00173 facilitates tumor progression by stimulating RAB1B-mediated PA2G4 and SDF4 secretion in nasopharyngeal carcinoma., [RefSeq, PubMed]; Members of the RAB protein family, such as RAB1B, are low molecular mass monomeric GTPases localized on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB1B functions in the early secretory pathway and is essential for vesicle transport between the endoplasmic reticulum (ER) and Golgi (Chen et al., 1997 [PubMed 9030196]; Alvarez et al., 2003 [PubMed 12802079]).[supplied by OMIM, Jan 2009]., [RefSeq]; MicroR-380-3p Reduces Sepsis-Induced Acute Kidney Injury via Regulating RAB1P to Restrain NF-kappaB Pathway., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:20545908, PubMed:9437002, PubMed:23236136). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:9437002). Plays a role in the initial events of the autophagic vacuole development which take place at specialized regions of the endoplasmic reticulum (PubMed:20545908). Regulates vesicular transport between the endoplasmic reticulum and successive Golgi compartments (By similarity). Required to modulate the compacted morphology of the Golgi (PubMed:26209634). Promotes the recruitment of lipid phosphatase MTMR6 to the endoplasmic reticulum-Golgi intermediate compartment (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7S1", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "5.6.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.3", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:1903020 positive regulation of glycoprotein metabolic process;GO:0000045 autophagosome assembly;GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 41.6, "record_id": "Q9H0U4-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05195-1", "uniprot_id": [ { "id": "MAD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05195", "type": "external" } ], "mass": 25254.0, "length": 221, "protein_name": "Max dimerization protein 1", "gene_name": "MXD1", "organism": "Human", "refseq_name": "max dimerization protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001189442", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189442", "type": "external" } ], "gene_names_uniprotkb": "MXD1; MAD", "gene_names_refseq": "BHLHC58; MAD1; MAD; MXD1", "protein_names_uniprotkb": "Max dimerization protein 1; Max dimerizer 1; Protein MAD", "protein_names_refseq": "MAX-binding protein; antagonizer of myc transcriptional activity; max dimerization protein 1 isoform 2; max dimerizer 1", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:4084)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;12837246;17577784;18082613;18203738;18451027;18452278;19526459;23481700;24715725;25548167;25576301;27846572;27920218;28832583;29242379;29331515;29493099;29508533;29557506;29786170;29789417;31154438;31844290;31848261;32157095;32488085;32983136;33123756;33298915;33537096;33592498;34087483;34171305;34761715;35051231;8425218", "class_list": "", "function": "Component of a transcriptional repressor complex together with MAX (PubMed:8425218). In complex with MAX binds to the core DNA sequence 5'-CAC[GA]TG-3' (PubMed:8425218). Antagonizes MYC transcriptional activity by competing with MYC for MAX binding (PubMed:8425218). Binds to the TERT promoter and represses telomerase expression, possibly by interfering with MYC binding (PubMed:12837246)., [UniProtKB, PubMed, PubMed]; MXD1 is a Potential Prognostic Biomarker and Correlated With Specific Molecular Change and Tumor Microenvironment Feature in Esophageal Squamous Cell Carcinoma., [RefSeq, PubMed]; Mad1, Mxi1 and Rox genes were expressed and displayed mutations in haematological malignancies., [RefSeq, PubMed]; Results suggest STAT3 functions as a C/EBPbeta cofactor in the regulation of the MAD1 gene., [RefSeq, PubMed]; Targeting miR-21 with NL101 blocks c-Myc/Mxd1 loop and inhibits the growth of B cell lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6V8;B7ZLI6;D6W5G2;Q6FI41", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q05195-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09237-1", "uniprot_id": [ { "id": "MMP7_HUMAN", "url": "https://www.uniprot.org/uniprot/P09237", "type": "external" } ], "mass": 29677.0, "length": 267, "protein_name": "Matrilysin", "gene_name": "MMP7", "organism": "Human", "refseq_name": "matrilysin preproprotein", "refseq_ac": [ { "id": "NP_002414", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002414", "type": "external" } ], "gene_names_uniprotkb": "MMP7; MPSL1; PUMP1", "gene_names_refseq": "MMP-7; MMP7; MPSL1; PUMP-1", "protein_names_uniprotkb": "Matrilysin; 3.4.24.23; MMP-7; Matrin; Matrix metalloproteinase-7; Pump-1 protease; Uterine metalloproteinase", "protein_names_refseq": "matrilysin preproprotein; matrin; matrix metallopeptidase 7 (matrilysin, uterine); matrix metalloproteinase 7 (matrilysin, uterine); matrix metalloproteinase-7; pump-1 protease; uterine matrilysin; uterine metalloproteinase", "tax_id": 9606, "disease": "endometrial hyperplasia (Disease Ontology:DOID:0080365); prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); renal hypertension (Disease Ontology:DOID:1073); hypertension (Disease Ontology:DOID:10763); endometrial cancer (Disease Ontology:DOID:1380); bladder neck obstruction (Disease Ontology:DOID:13948); glioblastoma (Disease Ontology:DOID:3068); lung non-small cell carcinoma (Disease Ontology:DOID:3908); coronary restenosis (Disease Ontology:DOID:4247)", "pathway": " (hsa:4316); (R-HSA-1442490); (R-HSA-1474228); (R-HSA-1592389); (R-HSA-2022090); (R-HSA-9009391)", "pathway_count": 6, "publication_count": 244, "publication_id_list": "10049780;10229672;10319328;10386589;10427092;10551873;10596943;10706100;10749889;10806474;10809722;10966814;10986281;11013208;11029009;11029403;11043579;11044445;11119712;11185956;11369763;11375993;11577169;11689445;11773442;11773443;11825873;11830519;11872628;11927537;11981029;12048194;12388769;12421825;12431978;12482924;12511868;12579531;12588983;12682286;12727852;12808053;12843408;12881510;1311314;1371271;1378832;1390635;1400327;14602708;14764897;1480033;14973287;1497627;15005656;15033483;15044318;15090535;15231873;15234972;15257288;15265795;15314172;15467163;15496458;15569929;15591058;15657067;15705661;15837520;15950618;15956360;15958533;16133547;16239258;16274718;1649600;16631740;16636149;16645038;16825197;16825321;16835357;1698775;17037979;1704217;1707285;17088321;17332331;17354228;17424910;17525128;17535799;17608959;1783204;17916740;17921256;18206197;18434311;18622425;18657504;18658137;19010778;19138696;19571574;19657146;19693541;19714641;19879889;2005102;20142769;20439495;20650261;20861220;21030783;21297635;21441952;21593211;2159879;21670566;21680538;2169257;2169335;2176865;21784848;21851428;21864727;21935455;22028449;22031296;22159414;22241472;22266855;22382088;22446104;2253219;2269296;23035980;2307289;23481700;2383557;23845380;24039841;24530924;24714562;2537292;2546891;2548603;2550050;25502872;2551898;25576301;2557753;25587652;25892735;26728094;27288742;27397612;27622074;2834383;2844164;2845110;28539435;28832583;29242379;29331515;29557506;29738483;29769354;29786170;3038863;3058116;30833945;31848261;32157095;3223920;32350084;32983136;33043033;34171305;34185709;34932366;35051231;35154160;35580925;36284347;38485250;38522506;38914992;38925847;4216367;6258630;6263256;6270089;6694361;7075587;7526779;7547873;7669817;7746327;7750475;7756291;7780967;7826345;7890645;7890717;7896811;7981201;8015608;8194591;8207089;8226919;8294454;8314771;8463259;8530478;8576151;8621565;8626565;8645182;8663255;8782602;8804434;8876252;8920930;8999957;9008168;9065415;9092507;9115292;9148753;9173876;9261109;9346290;9395517;9422744;9461298;9565625;9578462;9616126;9632662;9651395;9852107;9856810", "class_list": "", "function": "Contribution of Matrix Metalloproteinase-7 Genotypes to Endometriosis Risk in Taiwan., [RefSeq, PubMed]; Degrades casein, gelatins of types I, III, IV, and V, and fibronectin. Activates procollagenase., [UniProtKB, PubMed]; Neurotensin contributes to cholestatic liver disease potentially modulating matrix metalloprotease-7., [RefSeq, PubMed]; Relationships of serum MMP-7 and clinical characteristics in choledochal cyst children. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal hemopexin domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes on chromosome 11. This gene exhibits elevated expression levels in multiple human cancers. [provided by RefSeq, Jan 2016]., [RefSeq]; Utility of peripheral protein biomarkers for the prediction of incident interstitial features: a multicentre retrospective cohort study. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BTK9", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.22.43", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.43", "type": "external" }, { "id": "3.4.24.7", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.7", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.4.22.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.15", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.24.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.24", "type": "external" }, { "id": "3.4.24.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.17", "type": "external" }, { "id": "3.4.24.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.23", "type": "external" }, { "id": "3.4.24.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.22", "type": "external" }, { "id": "3.4.24.19", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.19", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "3.4.24.65", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.65", "type": "external" }, { "id": "3.4.22.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.38", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0006509 membrane protein ectodomain proteolysis;GO:0022617 extracellular matrix disassembly;GO:0030198 extracellular matrix organization;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 24.5, "record_id": "P09237-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14116-1", "uniprot_id": [ { "id": "IL18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14116", "type": "external" } ], "mass": 22326.0, "length": 193, "protein_name": "Interleukin-18", "gene_name": "IL18", "organism": "Human", "refseq_name": "interleukin-18 isoform 2", "refseq_ac": [ { "id": "NP_001230140", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230140", "type": "external" } ], "gene_names_uniprotkb": "IL18; IGIF; IL1F4", "gene_names_refseq": "IGIF; IL-18; IL-1g; IL18; IL1F4", "protein_names_uniprotkb": "Interleukin-18; IFN-gamma-inducing factor; IL-1 gamma; IL-18; Iboctadekin; Interferon gamma-inducing factor; Interleukin-1 gamma", "protein_names_refseq": "IFN-gamma-inducing factor; IL-1 gamma; iboctadekin; interleukin 18 (interferon-gamma-inducing factor); interleukin-1 gamma; interleukin-18 isoform 2", "tax_id": 9606, "disease": "hemophagocytic lymphohistiocytosis (Disease Ontology:DOID:0050120); sleep apnea (Disease Ontology:DOID:0050847); stroke (Disease Ontology:DOID:0051061); primary cutaneous T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0060061); cardiac arrest (Disease Ontology:DOID:0060319); intrahepatic cholestasis of pregnancy (Disease Ontology:DOID:0070227); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); COVID-19 (Disease Ontology:DOID:0080600); polymyositis (Disease Ontology:DOID:0080745); urinary tract infection (Disease Ontology:DOID:0080784); Graves ophthalmopathy (Disease Ontology:DOID:0081120); dermatomyositis (Disease Ontology:DOID:10223); respiratory failure (Disease Ontology:DOID:11162); sarcoidosis (Disease Ontology:DOID:11335); heart disease (Disease Ontology:DOID:114); alcoholic hepatitis (Disease Ontology:DOID:12351); Graves' disease (Disease Ontology:DOID:12361); paracoccidioidomycosis (Disease Ontology:DOID:12662); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); Sjogren's syndrome (Disease Ontology:DOID:12894); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); temporal arteritis (Disease Ontology:DOID:13375); Kawasaki disease (Disease Ontology:DOID:13378); pulmonary sarcoidosis (Disease Ontology:DOID:13406); biliary atresia (Disease Ontology:DOID:13608); cystic fibrosis (Disease Ontology:DOID:1485); urticaria (Disease Ontology:DOID:1555); breast cancer (Disease Ontology:DOID:1612); cystitis (Disease Ontology:DOID:1679); status epilepticus (Disease Ontology:DOID:1824); hepatitis C (Disease Ontology:DOID:1883); atherosclerosis (Disease Ontology:DOID:1936); hepatitis B (Disease Ontology:DOID:2043); brain ischemia (Disease Ontology:DOID:2316); asthma (Disease Ontology:DOID:2841); severe acute respiratory syndrome (Disease Ontology:DOID:2945); pulmonary tuberculosis (Disease Ontology:DOID:2957); IgA glomerulonephritis (Disease Ontology:DOID:2986); familial Mediterranean fever (Disease Ontology:DOID:2987); invasive ductal carcinoma (Disease Ontology:DOID:3008); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); ischemia (Disease Ontology:DOID:326); atopic dermatitis (Disease Ontology:DOID:3310); cerebral infarction (Disease Ontology:DOID:3526); pulmonary fibrosis (Disease Ontology:DOID:3770); lung non-small cell carcinoma (Disease Ontology:DOID:3908); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); brain edema (Disease Ontology:DOID:4724); pancreatitis (Disease Ontology:DOID:4989); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); pneumonia (Disease Ontology:DOID:552); eye disease (Disease Ontology:DOID:5614); myocardial infarction (Disease Ontology:DOID:5844); myositis (Disease Ontology:DOID:633); hepatocellular carcinoma (Disease Ontology:DOID:684); cataract (Disease Ontology:DOID:83); lung disease (Disease Ontology:DOID:850); vasculitis (Disease Ontology:DOID:865); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); psoriasis (Disease Ontology:DOID:8893); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); diabetic retinopathy (Disease Ontology:DOID:8947); steatotic liver disease (Disease Ontology:DOID:9452); pulmonary emphysema (Disease Ontology:DOID:9675); type 1 diabetes mellitus (Disease Ontology:DOID:9744); alopecia areata (Disease Ontology:DOID:986); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3606); (R-HSA-448706); (R-HSA-5620971); (R-HSA-6783783); (R-HSA-6785807); (R-HSA-9012546); (R-HSA-9660826); (R-HSA-9960519); (R-HSA-9960525)", "pathway_count": 9, "publication_count": 198, "publication_id_list": "10023775;10023777;10092818;10219247;10369418;10415057;10433356;10510379;10586089;10653850;10867011;11058569;11084045;11104795;11120780;11278437;11278729;11313357;11356008;11404481;11463377;11960372;12223527;12242343;12554859;12600988;12626585;12832402;14528293;1460289;14634100;14712222;15116091;15261459;15326478;15584925;1574116;15805299;15869882;15919823;15950906;16007214;16048438;16107692;16125299;16205632;16236134;16397018;16451196;16510571;16540365;16606674;16897187;16982608;17427945;17458857;17572495;17641058;18243101;18353781;18447642;18644974;19124156;19185846;19397496;1940369;1940799;19859801;20145033;20493732;21102457;21252155;21689689;21730069;21937440;21994466;22046235;22205702;22383755;22693070;22851691;23086340;23124025;23172665;23455323;23555662;23817414;23878142;23955712;23967200;24097101;24743777;25234944;25261253;25500532;26116704;26375003;26508369;26992070;27281216;27383986;27418190;28045099;28392147;28459430;28510447;29177860;29331515;29539421;29557506;29891674;29898893;29990470;30143555;30429286;30484775;30976076;31113851;31154438;32109412;32161166;32188940;32272059;32367036;32576222;32820063;33723046;33883744;34185709;35494241;35580925;36284347;37558421;37993712;37993714;39116343;39191434;39240632;39292786;39445015;7510216;7512027;7512451;7516408;7529288;7543512;7593617;7594602;7684412;7687627;7795521;7796300;7898939;7902377;7907877;8044845;8063757;8085155;8102388;8120391;8163946;8186324;8301137;8537680;8602263;8621622;8662928;8663118;8666798;8668165;8734788;8742066;8797861;8816495;8871669;8897595;8910398;8921438;8946277;8999548;9013879;9013939;9121587;9312047;9325300;9334240;9354687;9449724;9550426;9651359;9723655;9736340;9792649;9794440;9822675;9836587;9874564;9918218", "class_list": "", "function": "ACSL6-activated IL-18R1-NF-kappaB promotes IL-18-mediated tumor immune evasion and tumor progression., [RefSeq, PubMed]; Deciphering interleukin-18 in diabetes and its complications: Biological features, mechanisms, and therapeutic perspectives. Review article, [RefSeq, PubMed]; IL-10 and IL-18: Key players in liver damage associated with hepatitis A virus infection., [RefSeq, PubMed]; PTBP3 Mediates IL-18 Exon Skipping to Promote Immune Escape in Gallbladder Cancer., [RefSeq, PubMed]; Pro-inflammatory cytokine primarily involved in epithelial barrier repair, polarized T-helper 1 (Th1) cell and natural killer (NK) cell immune responses (PubMed:10653850). Upon binding to IL18R1 and IL18RAP, forms a signaling ternary complex which activates NF-kappa-B, triggering synthesis of inflammatory mediators (PubMed:14528293, PubMed:25500532, PubMed:37993714). Synergizes with IL12/interleukin-12 to induce IFNG synthesis from T-helper 1 (Th1) cells and natural killer (NK) cells (PubMed:10653850). Involved in transduction of inflammation downstream of pyroptosis: its mature form is specifically released in the extracellular milieu by passing through the gasdermin-D (GSDMD) pore (PubMed:33883744)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Role of interleukin-18 in mediating the impacts of celiac disease on osteoporosis: a Mendelian randomization study. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a proinflammatory cytokine of the IL-1 family that is constitutively found as a precursor within the cytoplasm of a variety of cells including macrophages and keratinocytes. The inactive IL-18 precursor is processed to its active form by caspase-1, and is capable of stimulating interferon gamma production, and of regulating both T helper (Th) 1 and Th2 responses. This cytokine has been implicated in the injury of different organs, and in potentially fatal conditions characterized by a cytokine storm. In humans, IL-18 gene is located on chromosome 11. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 29, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring", "glycan_count": 1, "disease_count": 71, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O75599;Q6FGY3;Q6WWJ7", "ec_number_list": [], "go_molecular_function": "GO:0045515 interleukin-18 receptor binding;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol", "go_biological_process": "GO:0032736 positive regulation of interleukin-13 production;GO:0045063 T-helper 1 cell differentiation;GO:0051142 positive regulation of NK T cell proliferation;GO:0032740 positive regulation of interleukin-17 production;GO:0034105 positive regulation of tissue remodeling", "synthesized_glycan_count": 0, "hit_score": 20.1, "record_id": "Q14116-1", "record_type": "protein", "filter_code": "0100000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14139-1", "uniprot_id": [ { "id": "UBE4A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14139", "type": "external" } ], "mass": 122561.0, "length": 1066, "protein_name": "Ubiquitin conjugation factor E4 A", "gene_name": "UBE4A", "organism": "Human", "refseq_name": "ubiquitin conjugation factor E4 A isoform 2", "refseq_ac": [ { "id": "NP_001191006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191006", "type": "external" } ], "gene_names_uniprotkb": "UBE4A; KIAA0126", "gene_names_refseq": "E4; NEDHMS; UBE4A; UBOX2; UFD2", "protein_names_uniprotkb": "Ubiquitin conjugation factor E4 A; 2.3.2.27; RING-type E3 ubiquitin transferase E4 A", "protein_names_refseq": "RING-type E3 ubiquitin transferase E4 A; ubiquitin conjugation factor E4 A isoform 2; ubiquitin conjugation factor E4 A; ubiquitination factor E4A (UFD2 homolog, yeast)", "tax_id": 9606, "disease": "neurodevelopmental disorder with hypotonia and gross motor and speech delay (MONDO:MONDO:0859207)", "pathway": " (hsa:9354); (R-HSA-983168)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "11062501;11350924;12646216;12665801;14734113;15019985;15224091;15224092;15571818;15611659;16595681;16849449;16954532;17553343;18069675;18662542;19028597;19352404;19452197;19489725;19608861;19851334;19874575;19940261;2261476;23301498;23481700;24366607;24714562;24715725;25418920;25576301;25802875;25880248;26154972;26728094;26992070;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29557506;29786170;29789417;30315122;30410026;30429286;30779550;31154438;31530632;31844290;31848261;31937595;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33420346;33592498;33691108;33912179;33968037;33981976;34087483;34185709;34357683;34509645;34932366;35051231;35136024;35318648;35580925;36010968;36215666;36240223;36241641;36284347;37084817;37938771;40914422;9380723;9668046", "class_list": "", "function": "Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay., [RefSeq, PubMed]; Identified an intestinal cDNA clone encoding ubiquitination factor E4A (UBE4A), a U-box-type ubiquitin-protein ligase. The prevalence of anti-UBE4A IgG in patients with CD was significantly higher than that in patients with UC or healthy controls, [RefSeq, PubMed]; In these studies, we define Ufd2 (a novel E4 polyubiquitylating enzyme) as a new autoantigen in scleroderma, and show that it regulates chromosome condensation and separation during mitosis in human cells., [RefSeq, PubMed]; PTBP3 modulates P53 expression and promotes colorectal cancer cell proliferation by maintaining UBE4A mRNA stability. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]; UBE4A catalyzes NRF1 ubiquitination and facilitates DDI2-mediated NRF1 cleavage., [RefSeq, PubMed]; UBE4A is expressed in different tissues in a pattern that seems to be dependent from cell type and cell cycle and that UBE4A might have a specific role in different biochemical processes other than ubiquitination, including growth or differentiation., [RefSeq, PubMed]; UBE4A was over-expressed in ovarian serous cystadenocarcinoma tissues, suggesting that the activity of ubiquitin-proteasome system is enhanced in ovarian cancer., [RefSeq, PubMed]; Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase. Mediates 'Lys-48'-linked polyubiquitination of substrates., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B0YJB6;Q2M1H0;Q6P5T4;Q7Z639", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0034450 ubiquitin-ubiquitin ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q14139-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95405-1", "uniprot_id": [ { "id": "ZFYV9_HUMAN", "url": "https://www.uniprot.org/uniprot/O95405", "type": "external" } ], "mass": 156403.0, "length": 1425, "protein_name": "Zinc finger FYVE domain-containing protein 9", "gene_name": "ZFYVE9", "organism": "Human", "refseq_name": "zinc finger FYVE domain-containing protein 9 isoform 3", "refseq_ac": [ { "id": "NP_004790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790", "type": "external" } ], "gene_names_uniprotkb": "ZFYVE9; MADHIP; SARA; SMADIP", "gene_names_refseq": "MADHIP; NSP; PPP1R173; SARA; SMADIP; ZFYVE9", "protein_names_uniprotkb": "Zinc finger FYVE domain-containing protein 9; Madh-interacting protein; Mothers against decapentaplegic homolog-interacting protein; NSP; Novel serine protease; Receptor activation anchor; Smad anchor for receptor activation; hSARA", "protein_names_refseq": "MAD, mothers against decapentaplegic homolog interacting protein, receptor activation anchor; MADH-interacting protein; novel serine protease; protein phosphatase 1, regulatory subunit 173; smad anchor for receptor activation; zinc finger FYVE domain-containing protein 9 isoform 3; zinc finger FYVE domain-containing protein 9; zinc finger, FYVE domain containing 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:9372)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10.1101/2023.09.13.557529;10615055;11877415;12154125;14759258;15356634;18669648;23186163;23301498;24275569;25892735;27920218;28657654;28904123;29786170;30429286;31844290;32157095;32283253;32350084;32387766;32488085;32938616;33592498;33968037;33981976;34357683;35051231;35154160;35580925;36010968;37641437;37938771;9582421;9865696", "class_list": "", "function": "Early endosomal protein that functions to recruit SMAD2/SMAD3 to intracellular membranes and to the TGF-beta receptor. Plays a significant role in TGF-mediated signaling by regulating the subcellular location of SMAD2 and SMAD3 and modulating the transcriptional activity of the SMAD3/SMAD4 complex. Possibly associated with TGF-beta receptor internalization., [UniProtKB, PubMed, PubMed]; Expression of a SARA mutant protein lacking the FYVE finger inhibits downstream activin A signaling in endothelial cells., [RefSeq, PubMed]; Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset., [RefSeq, PubMed]; SMURF2 and SMAD7 induce SARA degradation via the proteasome., [RefSeq, PubMed]; This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits SMAD2 to the TGFB receptor. There are multiple pseudogenes for this gene on chromosomes 2, 15, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5T0F6;Q5T0F7;Q9UNE1;Q9Y5R7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019904 protein domain specific binding;GO:0005545 1-phosphatidylinositol binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0031901 early endosome membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006897 endocytosis;GO:0007179 transforming growth factor beta receptor signaling pathway;GO:0016197 endosomal transport", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "O95405-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2NL67-1", "uniprot_id": [ { "id": "PARP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2NL67", "type": "external" } ], "mass": 71115.0, "length": 630, "protein_name": "Protein mono-ADP-ribosyltransferase PARP6", "gene_name": "PARP6", "organism": "Human", "refseq_name": "protein mono-ADP-ribosyltransferase PARP6 isoform 1", "refseq_ac": [ { "id": "NP_001310451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310451", "type": "external" } ], "gene_names_uniprotkb": "PARP6", "gene_names_refseq": "ARTD17; PARP-6-B1; PARP-6-C; PARP6; pART17", "protein_names_uniprotkb": "Protein mono-ADP-ribosyltransferase PARP6; 2.4.2.-; ADP-ribosyltransferase diphtheria toxin-like 17; ARTD17; PARP-6; Poly [ADP-ribose] polymerase 6", "protein_names_refseq": "ADP-ribosyltransferase diphtheria toxin-like 17; MIEREN, class II; PARP-6; poly [ADP-ribose] polymerase 6; protein mono-ADP-ribosyltransferase PARP6 isoform 1; protein mono-ADP-ribosyltransferase PARP6", "tax_id": 9606, "disease": "", "pathway": " (hsa:56965); (R-HSA-196807); (R-HSA-9683610); (R-HSA-9694631)", "pathway_count": 4, "publication_count": 84, "publication_id_list": "10331643;10613898;11237011;11248244;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12790796;13563527;14516279;14966140;15090606;15137942;15381699;15674325;15848177;16103198;16118205;1637327;16690024;17402747;17604275;17641676;17868694;17914902;18411268;19106108;19531469;20106667;20388704;2129526;21504897;21699903;21933152;21994945;22645359;22701565;22822066;23042038;23212377;23230272;24717514;24847004;25043379;25531177;26598975;26934315;26992070;28218747;28260087;28904123;29199039;29557506;31530632;32029454;32637943;32645325;32723359;32817937;32877642;32906142;32938616;33087354;33248025;33912179;33936100;33968037;33997890;34029587;34042961;34067418;34593624;35051231;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay. Publication Status: Online-Only, [RefSeq, PubMed]; Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins., [UniProtKB, PubMed, UniProtKB, UniProtKB]; PARP6 acts as a tumor suppressor via downregulating Survivin expression in CRC. PARP6 can be a novel diagnostic and therapeutic target together with Survivin for CRC., [RefSeq, PubMed]; PARP6, a mono(ADP-ribosyl) transferase and a negative regulator of cell proliferation, is involved in colorectal cancer development, PARP6-positive colorectal cancer had a good prognosis., [RefSeq, PubMed]; Results showed that both PARP6 and survivin exhibited higher expression in colorectal adenocarcinoma tissues and cell lines. knockdown of either PARP6 or survivin promotes cell apoptosis and inhibits the cell invasion of colorectal adenocarcinoma cells suggesting a significant correlation between theses 2 proteins., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9H7C5;Q9H9X6;Q9HAF3;Q9NPS6;Q9UFG4", "ec_number_list": [ { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "type": "external" } ], "go_molecular_function": "GO:0019900 kinase binding;GO:0043539 protein serine/threonine kinase activator activity;GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity;GO:0140803 NAD+-protein-cysteine ADP-ribosyltransferase activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0016020 membrane;GO:0071782 endoplasmic reticulum tubular network", "go_biological_process": "GO:0070213 protein auto-ADP-ribosylation;GO:0050775 positive regulation of dendrite morphogenesis;GO:0030968 endoplasmic reticulum unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q2NL67-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q66K74-1", "uniprot_id": [ { "id": "MAP1S_HUMAN", "url": "https://www.uniprot.org/uniprot/Q66K74", "type": "external" } ], "mass": 112211.0, "length": 1059, "protein_name": "Microtubule-associated protein 1S", "gene_name": "MAP1S", "organism": "Human", "refseq_name": "microtubule-associated protein 1S isoform 2", "refseq_ac": [ { "id": "NP_001295292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295292", "type": "external" } ], "gene_names_uniprotkb": "MAP1S; BPY2IP1; C19orf5; MAP8; VCY2IP1", "gene_names_refseq": "BPY2IP1; C19orf5; MAP1S; MAP8; VCY2IP-1; VCY2IP1", "protein_names_uniprotkb": "Microtubule-associated protein 1S; BPY2-interacting protein 1; MAP-1S; Microtubule-associated protein 8; VCY2-interacting protein 1; VCY2IP-1; Variable charge Y chromosome 2-interacting protein 1", "protein_names_refseq": "BPY2-interacting protein 1; MAP-1S; VCY2-interacting protein 1; microtubule-associated protein 1S isoform 2; microtubule-associated protein 8; variable charge Y chromosome 2-interacting protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55201)", "pathway_count": 1, "publication_count": 101, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11827465;12762840;14627543;15205320;15302935;15528209;15753381;15899810;15907802;16055720;16297881;17081983;17234756;17287340;17658481;18220336;18419581;18445686;18452278;18669648;18691976;18767875;19369195;19413330;19415658;19651622;19664994;19664995;20058876;20068230;20068231;20166139;21406692;22523538;23186163;23301498;23481700;24275569;25576301;26701856;26992070;27862975;28188784;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632711;29769354;29786170;30266825;30315122;30429286;30524438;30779550;30833945;31154438;31222486;31530632;31844290;31848261;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33091337;33123756;33298915;33442234;33592498;33912179;33968037;33981976;34087483;34171305;34932366;35051231;35251023;35580925;36215666;36241641;36892418;38253038;39302247;40307207;40914422", "class_list": "", "function": "Autophagy defects in the degradation of lipid droplets triggered by the MAP1S deficiency may enhance the initiation and development of ccRCC and reduce the survival of ccRCC patients., [RefSeq, PubMed]; Is expressed in a wide range of tissues in addition to neurons and represents the non-neuronal counterpart of a cytolinker family, [RefSeq, PubMed]; Microtubule-associated protein that mediates aggregation of mitochondria resulting in cell death and genomic destruction (MAGD). Plays a role in anchoring the microtubule organizing center to the centrosomes. Binds to DNA. Plays a role in apoptosis. Involved in the formation of microtubule bundles (By similarity)., [UniProtKB, PubMed, PubMed]; RASSF1A Enhances Chemosensitivity of NSCLC Cells Through Activating Autophagy by Regulating MAP1S to Inactivate Keap1-Nrf2 Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggested that microtubule associated protein 1S (MAP1S) were up-regulated among Crohn's disease (CD) patients and MAP1S-related autophagy inhibits apoptosis of intestinal epithelial cells (IECs) through Wnt/beta-catenin signaling pathway which might play a vital role in the protection of intestinal mucosal barrier and inhibition the progression of CD., [RefSeq, PubMed]; Spermidine suppresses the activation of hepatic stellate cells to cure liver fibrosis through autophagy activator MAP1S., [RefSeq, PubMed]; The amino acid sequence of VCY2IP-1 shows 59.3% and 41.9% homology to two human microtubule-associated proteins (MAPs), MAP1B and MAP1A, respectively. VCY2IP-1 has an extensive homology to the N-terminus and C-terminus regions of MAP1B and MAP1A, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4DH53;Q27QB1;Q6NXF1;Q8N3L8;Q8N3W5;Q8NI88;Q96H94;Q96IT4;Q96SP8;Q9BRC6;Q9H928;Q9NVK7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003779 actin binding;GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005813 centrosome;GO:0005819 spindle", "go_biological_process": "GO:0051310 metaphase chromosome alignment;GO:0047497 mitochondrion transport along microtubule;GO:0007399 nervous system development;GO:0007409 axonogenesis;GO:0016358 dendrite development", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q66K74-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDX9-1", "uniprot_id": [ { "id": "LY65B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDX9", "type": "external" } ], "mass": 22572.0, "length": 201, "protein_name": "Lymphocyte antigen 6 complex locus protein G5b", "gene_name": "LY6G5B", "organism": "Human", "refseq_name": "lymphocyte antigen 6 complex locus protein G5b precursor", "refseq_ac": [ { "id": "NP_067044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067044", "type": "external" } ], "gene_names_uniprotkb": "LY6G5B; C6orf19; G5B", "gene_names_refseq": "C6orf19; G5b; LY6G5B", "protein_names_uniprotkb": "Lymphocyte antigen 6 complex locus protein G5b", "protein_names_refseq": "lymphocyte antigen 6 complex locus protein G5b precursor; lymphocyte antigen 6 complex locus protein G5b; lymphocyte antigen 6 complex, locus G5B", "tax_id": 9606, "disease": "", "pathway": " (hsa:58496)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "12079290;14656967;17008713;17975119;19023099;19143814;19851445;19913121;20628086;8812450", "class_list": "", "function": "LY6G5B belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]., [RefSeq]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B0UXB2;B0UZ65;B0UZP8;B7ZCA3;Q5SQ62;Q5SST3;Q9UKT0;Q9UMQ0", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0019887 protein kinase regulator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0009897 external side of plasma membrane;GO:0032991 protein-containing complex;GO:0005956 protein kinase CK2 complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8NDX9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43363-1", "uniprot_id": [ { "id": "MAGAA_HUMAN", "url": "https://www.uniprot.org/uniprot/P43363", "type": "external" } ], "mass": 40780.0, "length": 369, "protein_name": "Melanoma-associated antigen 10", "gene_name": "MAGEA10", "organism": "Human", "refseq_name": "melanoma-associated antigen 10", "refseq_ac": [ { "id": "NP_001011543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011543", "type": "external" } ], "gene_names_uniprotkb": "MAGEA10; MAGE10", "gene_names_refseq": "CT1.10; MAGE10; MAGEA10", "protein_names_uniprotkb": "Melanoma-associated antigen 10; CT1.10; Cancer/testis antigen 1.10; MAGE-10 antigen", "protein_names_refseq": "MAGE-10 antigen; cancer/testis antigen 1.10; cancer/testis antigen family 1, member 10; melanoma antigen family A, 10; melanoma antigen family A10; melanoma-associated antigen 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:4109)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;15355897;15777939;21710496;25277238;25645385;26154972;26191258;26500235;27198675;27869121;28411811;28904123;29242379;29557506;30418433;30815394;31844290;32938616;32965606;33141586;33665637;34035112;34103348;34405274;34782741;34853077;35086946;35851311;35874702;36010968;36211805;36768214;37280206;37485346;37586765;38136576;38285780;39394480;7927540", "class_list": "", "function": "CTAs (MAGE-A4, NY-ESO-1, MAGE-A10) were more likely expressed in patients with squamous cell carcinoma of the lung and when CTAs combined with CD133, they can be better prognostic factors. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of MAGE A1 to MAGE A10 in the Forceps Biopsy and Bronchoalveolar Lavage Specimens from Patients with the Central Lung Tumor. Publication Status: Online-Only, [RefSeq, PubMed]; High MAGE-A10 is associated with lung, skin and urothelial malignancies., [RefSeq, PubMed]; How the Intrinsically Disordered N-Terminus of Cancer/Testis Antigen MAGEA10 Is Responsible for Its Expression, Nuclear Localisation and Aberrant Migration. Publication Status: Online-Only, [RefSeq, PubMed]; MAGEA10 expression is a predictive marker of early hepatic recurrence after curative gastrectomy for gastric and gastroesophageal junction cancer., [RefSeq, PubMed]; Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression., [UniProtKB]; This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream melanoma antigen family A, 5 (MAGEA5) gene.[provided by RefSeq, Oct 2011]., [RefSeq]; This is the first report of these MAGE-A10 alternative splice sequences, and characterization of MAGE-A expression, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "P43363-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51003-1", "uniprot_id": [ { "id": "PAPOA_HUMAN", "url": "https://www.uniprot.org/uniprot/P51003", "type": "external" } ], "mass": 82843.0, "length": 745, "protein_name": "Poly(A) polymerase alpha", "gene_name": "PAPOLA", "organism": "Human", "refseq_name": "poly(A) polymerase alpha isoform 2", "refseq_ac": [ { "id": "NP_001238935", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238935", "type": "external" } ], "gene_names_uniprotkb": "PAPOLA; PAP", "gene_names_refseq": "PAP-alpha; PAPOLA; PAP", "protein_names_uniprotkb": "Poly(A) polymerase alpha; 2.7.7.19; PAP-alpha; Polynucleotide adenylyltransferase alpha", "protein_names_refseq": "poly(A) polymerase alpha isoform 2; polynucleotide adenylyltransferase alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:10914); (R-HSA-72187); (R-HSA-73856); (R-HSA-77595); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 6, "publication_count": 161, "publication_id_list": "10.1101/2023.09.13.557529;10669729;11060040;11237011;11747608;11979277;12871933;14519844;14749727;14762106;15037765;15084397;15169763;15302935;15565158;15998806;17081983;17128255;17190602;17924679;17984224;18288197;18411249;18452278;18669648;18767875;18957205;19217410;19224921;19413330;19415658;19651622;19664995;19690332;19836239;20068231;20174964;20573985;20695905;20844015;21295486;21911577;21947206;22207203;22223895;22813749;22928037;23186163;23222130;23299939;23481700;23874216;24076191;24149845;24244187;24275569;24366607;24715725;25301780;25301781;25418920;25576301;25645385;25662211;25836925;25896913;26092250;26154972;26496945;26811146;26992070;27108190;27600516;27846572;27862975;27920218;28096519;28218747;28228285;28510447;28514659;28832583;28834231;28904123;28911096;29186539;29237092;29242379;29274231;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;29902443;30139799;30192525;30257008;30315122;30379171;30410026;30429286;30484775;30524438;30599162;30620550;31217245;31373491;31492838;31844290;32119511;32157095;32357974;32387766;32488085;32502341;32816001;32897882;32938616;32938750;32983136;33141586;33177556;33214551;33298915;33592498;33691108;33712453;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34725712;35051231;35132862;35138101;35177536;35215846;35254053;35318648;35580925;36010968;36215666;36241641;37541260;37938771;38665916;39302247;39531497;40307207;8302877;9659921", "class_list": "", "function": "Lack of CstF-64 binding excludes PAPalpha from Star-PAP target pre-mRNA UTRs.CstF-64 and 3'-UTR cis-element determine Star-PAP specificity for target mRNA selection by excluding poly A polymerase. Erratum:[Nucleic Acids Res. 2019 Feb 20;47(3):1598. doi: 10.1093/nar/gky1248. PMID: 30566625], [RefSeq, PubMed]; Observations imply that translational regulation is among the conserved mechanisms regulating PAPOLA expression., [RefSeq, PubMed]; PAPOLA contributes to cyclin D1 mRNA alternative polyadenylation and promotes breast cancer cell proliferation., [RefSeq, PubMed]; Polymerase that creates the 3'-poly(A) tail of mRNA's., [UniProtKB, UniProtKB]; Polymerase that creates the 3'-poly(A) tail of mRNA's. Also required for the endoribonucleolytic cleavage reaction at some polyadenylation sites. May acquire specificity through interaction with a cleavage and polyadenylation specificity factor (CPSF) at its C-terminus., [UniProtKB, PubMed]; The ability of PABPN1 to promote splicing requires its RNA binding and, to a lesser extent, poly(A)polymerase (PAP) - stimulatory functions., [RefSeq, PubMed]; The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; Whereas PABPN1 strongly increases the activity of its cognate poly(A) polymerase in vitro, Pab2 was unable to stimulate Pla1 to any significant extent., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q86SX4;Q86TV0;Q8IYF5;Q9BVU2", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "2.7.7.52", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.52", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0030145 manganese ion binding;GO:1990817 poly(A) RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0031124 mRNA 3'-end processing;GO:0180010 co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway;GO:0006397 mRNA processing;GO:0031123 RNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 17.3, "record_id": "P51003-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68DD2-1", "uniprot_id": [ { "id": "PA24F_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68DD2", "type": "external" } ], "mass": 95082.0, "length": 849, "protein_name": "Cytosolic phospholipase A2 zeta", "gene_name": "PLA2G4F", "organism": "Human", "refseq_name": "cytosolic phospholipase A2 zeta", "refseq_ac": [ { "id": "NP_998765", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_998765", "type": "external" } ], "gene_names_uniprotkb": "PLA2G4F", "gene_names_refseq": "PLA2G4FZ; PLA2G4F", "protein_names_uniprotkb": "Cytosolic phospholipase A2 zeta; 3.1.1.4; Phospholipase A2 group IVF; cPLA2-zeta", "protein_names_refseq": "cPLA2-zeta; cytosolic phospholipase A2 zeta", "tax_id": 9606, "disease": "", "pathway": " (hsa:255189); (R-HSA-1482788); (R-HSA-1482801); (R-HSA-1482839); (R-HSA-1482922); (R-HSA-1482925); (R-HSA-1483115)", "pathway_count": 7, "publication_count": 73, "publication_id_list": "10085124;10092508;10092647;10196188;10336645;10358058;10455175;10681567;11031251;11112443;11237011;11790796;11830583;12150957;12161451;12359733;12522102;14709560;15485873;15695510;15863501;15944408;1618844;16243729;16617059;16704971;16818490;16864775;17101204;17182612;18094042;18195019;18287005;18458083;18614531;18772128;18781350;19019078;1904318;19351971;19501189;19554302;19913121;20025994;20628086;20705608;21220512;21515882;22605381;22825852;22906437;23481700;23934110;26206935;26463208;26503625;29158256;2925608;2925633;29557506;31154438;31530632;31844290;33141586;33392160;35051231;7060561;8083230;8300559;9188469;9417066;9525960;9705332", "class_list": "", "function": "Has calcium-dependent phospholipase and lysophospholipase activities with a potential role in membrane lipid remodeling and biosynthesis of lipid mediators (PubMed:29158256). Preferentially hydrolyzes the ester bond of the fatty acyl group attached at sn-2 position of phospholipids (phospholipase A2 activity) (PubMed:29158256). Selectively hydrolyzes sn-2 arachidonoyl group from membrane phospholipids, providing the precursor for eicosanoid biosynthesis (PubMed:29158256). In myocardial mitochondria, plays a major role in arachidonate release that is metabolically channeled to the formation of cardioprotective eicosanoids, epoxyeicosatrienoates (EETs) (PubMed:29158256)., [UniProtKB, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZMC8", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "2.3.1.43", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.43", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.4.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.-", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.1", "type": "external" }, { "id": "2.3.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.149", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0004622 phosphatidylcholine lysophospholipase activity;GO:0004623 phospholipase A2 activity;GO:0008970 phospholipase A1 activity;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0031982 vesicle;GO:0032587 ruffle membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0036148 phosphatidylglycerol acyl-chain remodeling;GO:0046475 glycerophospholipid catabolic process;GO:0006650 glycerophospholipid metabolic process;GO:0016042 lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q68DD2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20916-1", "uniprot_id": [ { "id": "MAG_HUMAN", "url": "https://www.uniprot.org/uniprot/P20916", "type": "external" } ], "mass": 69069.0, "length": 626, "protein_name": "Myelin-associated glycoprotein", "gene_name": "MAG", "organism": "Human", "refseq_name": "myelin-associated glycoprotein isoform c", "refseq_ac": [ { "id": "NP_001186145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186145", "type": "external" } ], "gene_names_uniprotkb": "MAG; GMA", "gene_names_refseq": "GMA; MAG; S-MAG; SIGLEC-4A; SIGLEC4A; SIGLEC4; SPG75", "protein_names_uniprotkb": "Myelin-associated glycoprotein; Siglec-4a", "protein_names_refseq": "myelin-associated glycoprotein isoform c; sialic acid binding Ig-like lectin 4A; sialic acid-binding immunoglobulin-like lectin 4A", "tax_id": 9606, "disease": "hereditary spastic paraplegia 75 (Disease Ontology:DOID:0110820); sciatic neuropathy (Disease Ontology:DOID:11446); multiple sclerosis (Disease Ontology:DOID:2377); middle cerebral artery infarction (Disease Ontology:DOID:3525); nerve compression syndrome (Disease Ontology:DOID:573)", "pathway": " (hsa:4099); (R-HSA-193634); (R-HSA-210991); (R-HSA-9619665)", "pathway_count": 4, "publication_count": 140, "publication_id_list": "10.1101/2023.09.13.557529;10203854;10220111;10400691;10727776;10757804;10856243;10880960;10921872;11115854;11133365;11157804;11201742;11237011;11356866;11394999;11430795;11430802;11719518;11734543;11782409;11943775;12056842;12145339;12198163;12426574;12558975;12692556;12782656;12799134;14512514;14522948;14664827;14702039;14707126;14966521;15057824;15150276;15189448;15356632;15489334;15610069;15695336;15836632;15901826;15907797;15946952;16136673;16260747;16311519;16319321;16373334;16923174;1704008;17325040;17699610;17959798;17996943;18634568;18803322;19052207;19143832;19156870;19321787;19745155;1975954;19922439;20149798;20213556;20625412;20832498;21044070;21326363;21411665;21423190;21423191;21613327;21653862;22053691;22180461;22333914;22492709;22764250;22814607;23695165;23747866;23874858;24191038;24227709;2446864;2447011;24482476;24646194;24675079;2475262;2476987;2479762;25974668;26065001;26179919;26423937;26441514;27220739;27288457;27606346;27859941;28657654;28852375;28904123;29393594;29477585;29557506;29748249;30992531;31154438;32629324;33912179;34601991;35051231;36010968;6200494;7505568;7525550;7526383;7925941;7935840;8138712;8349731;8619637;8627307;8647822;8662541;8842374;9360995;9418958;9482253;9495552;9705348;9748295;9858769", "class_list": "glycogene", "function": "Adhesion molecule that mediates interactions between myelinating cells and neurons by binding to neuronal sialic acid-containing gangliosides and to the glycoproteins RTN4R and RTN4RL2 (By similarity). Not required for initial myelination, but seems to play a role in the maintenance of normal axon myelination. Protects motoneurons against apoptosis, also after injury; protection against apoptosis is probably mediated via interaction with neuronal RTN4R and RTN4RL2. Required to prevent degeneration of myelinated axons in adults; this probably depends on binding to gangliosides on the axon cell membrane (By similarity). Negative regulator of neurite outgrowth; in dorsal root ganglion neurons the inhibition is mediated primarily via binding to neuronal RTN4R or RTN4RL2 and to a lesser degree via binding to neuronal gangliosides. In cerebellar granule cells the inhibition is mediated primarily via binding to neuronal gangliosides. In sensory neurons, inhibition of neurite extension depends only partially on RTN4R, RTN4RL2 and gangliosides. Inhibits axon longitudinal growth (By similarity). Inhibits axon outgrowth by binding to RTN4R (By similarity). Preferentially binds to alpha-2,3-linked sialic acid. Binds ganglioside Gt1b (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy. Erratum:[Sci Rep. 2021 Feb 10;11(1):3902. doi: 10.1038/s41598-021-81911-3. PMID: 33568698] Publication Status: Online-Only, [RefSeq, PubMed]; Myelin-associated proteins are potential diagnostic markers in patients with primary brain tumour., [RefSeq, PubMed]; Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia., [RefSeq, PubMed]; The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neuron cell-cell interactions. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2010]., [RefSeq]; We observed two-way correlations between the MOG and MAG levels and the fractional anisotropy and mean diffusivity values in the white matter of the left middle frontal lobe, right inferior parietal lobe, and right supplementary motor area in major depressive disorder patients, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 855, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B7Z2E5;F5GYC0;Q15489;Q567S4", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0019901 protein kinase binding;GO:0042803 protein homodimerization activity;GO:0030246 carbohydrate binding;GO:0033691 sialic acid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043209 myelin sheath;GO:0045121 membrane raft;GO:0035749 myelin sheath adaxonal region;GO:0043220 Schmidt-Lanterman incisure", "go_biological_process": "GO:0032289 central nervous system myelin formation;GO:0007155 cell adhesion;GO:0045665 negative regulation of neuron differentiation;GO:0021762 substantia nigra development;GO:0010977 negative regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "P20916-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000001.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RI0-1", "uniprot_id": [ { "id": "PAR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RI0", "type": "external" } ], "mass": 41133.0, "length": 385, "protein_name": "Proteinase-activated receptor 4", "gene_name": "F2RL3", "organism": "Human", "refseq_name": "proteinase-activated receptor 4 preproprotein", "refseq_ac": [ { "id": "NP_003941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003941", "type": "external" } ], "gene_names_uniprotkb": "F2RL3; PAR4", "gene_names_refseq": "F2RL3; PAR4", "protein_names_uniprotkb": "Proteinase-activated receptor 4; Coagulation factor II receptor-like 3; PAR-4; Thrombin receptor-like 3", "protein_names_refseq": "F2R like thrombin/trypsin receptor 3; PAR-4; coagulation factor II (thrombin) receptor-like 3; protease-activated receptor-4; proteinase-activated receptor 4 preproprotein; proteinase-activated receptor 4; thrombin receptor-like 3", "tax_id": 9606, "disease": "small cell carcinoma (Disease Ontology:DOID:0050685); glioblastoma proneural subtype (Disease Ontology:DOID:0050804); ductal carcinoma in situ (Disease Ontology:DOID:0060074); prostate cancer (Disease Ontology:DOID:10283); intellectual disability (Disease Ontology:DOID:1059); urinary bladder cancer (Disease Ontology:DOID:11054); cancer (Disease Ontology:DOID:162); acute kidney failure (Disease Ontology:DOID:3021); glioblastoma (Disease Ontology:DOID:3068); oligodendroglioma (Disease Ontology:DOID:3181); embryonal carcinoma (Disease Ontology:DOID:3308); osteosarcoma (Disease Ontology:DOID:3347); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); familial retinoblastoma (Disease Ontology:DOID:4648); hepatocellular carcinoma (Disease Ontology:DOID:684); retinoblastoma (Disease Ontology:DOID:768); in situ carcinoma (Disease Ontology:DOID:8719); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9002); (R-HSA-375276); (R-HSA-416476); (R-HSA-456926)", "pathway_count": 4, "publication_count": 153, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11015615;11237011;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;16102047;16182515;16268778;16339447;1655761;16580177;1672265;16754659;16923326;1710450;1710578;1719979;1722333;18127230;18434511;18434541;1847994;18515384;18577758;18936096;1905813;19651622;19715408;20670195;23446738;23690594;24906252;25502872;25880248;25890453;26154972;2649896;26966273;27496565;2841328;28919443;29557506;3086311;31611695;31844290;3202875;32357974;32639031;33323464;3366244;34357683;34433824;35051231;35154160;3525564;37233402;37471144;38051301;3856870;38814792;38864771;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8035319;8062389;8063797;8185599;8201839;8248172;8290554;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;8982657;9087410;9171878;9305846;9521323;9530155;9593744;9607765;9618465;9685625;9716134;9722561;9722565;9770463;9792798;9832121;9851594;9924018", "class_list": "", "function": "Protease activated receptor-4: ready to be part of the antithrombosis spectrum. Review article, [RefSeq, PubMed]; Receptor for activated thrombin or trypsin coupled to G proteins that stimulate phosphoinositide hydrolysis (PubMed:10079109). May play a role in platelets activation (PubMed:10079109)., [UniProtKB, PubMed]; STING Contributes to Pulmonary Hypertension by Targeting IFN and BMPR2 Signaling through Regulating of F2RL3., [RefSeq, PubMed]; Strong correlation between F2RL3 in the blood and osteoarthritis based on a retrospective cohort study., [RefSeq, PubMed]; The Influence of Smoking and Occupational Risk Factors on DNA Methylation in the AHRR and F2RL3 Genes., [RefSeq, PubMed]; The predominant PAR4 variant in individuals of African ancestry worsens murine and human stroke outcomes. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the protease-activated receptor subfamily, part of the G-protein coupled receptor 1 family of proteins. The encoded receptor is proteolytically processed to reveal an extracellular N-terminal tethered ligand that binds to and activates the receptor. This receptor plays a role in blood coagulation, inflammation and response to pain. Hypomethylation at this gene may be associated with lung cancer in human patients. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 20, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O76067;Q6DK42", "ec_number_list": [], "go_molecular_function": "GO:0015057 thrombin-activated receptor activity;GO:0002020 protease binding;GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007596 blood coagulation;GO:0009611 response to wounding;GO:0030168 platelet activation", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "Q96RI0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000010011001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP74-1", "uniprot_id": [ { "id": "PALMD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP74", "type": "external" } ], "mass": 62758.0, "length": 551, "protein_name": "Palmdelphin", "gene_name": "PALMD", "organism": "Human", "refseq_name": "palmdelphin", "refseq_ac": [ { "id": "NP_060204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060204", "type": "external" } ], "gene_names_uniprotkb": "PALMD; C1orf11; PALML", "gene_names_refseq": "C1orf11; PALMD; PALML", "protein_names_uniprotkb": "Palmdelphin; Paralemmin-like protein", "protein_names_refseq": "palmdelphin; paralemmin-like protein; paralemnin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:54873)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;11478809;11707320;17081983;18220336;18452278;18669648;19584346;19651622;19691289;20068231;24275569;24810057;25114211;26992070;27862975;29557506;29786170;30429286;31154438;31844290;31848261;32859967;34636652;35051231;35367413;35580925;37556876;37938771", "class_list": "", "function": "Clinical importance and PI3K/Akt pathway-dependent anti-proliferative role of PALMD and DPT in breast cancer., [RefSeq, PubMed]; Findings define palmdelphin as a target of serine-46-phosphorylated p53 that controls cell death in response to DNA damage. Publication Status: Online-Only, [RefSeq, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PALMD regulates aortic valve calcification via altered glycolysis and NF-kappaB-mediated inflammation., [RefSeq, PubMed]; Palmdelphin Regulates Nuclear Resilience to Mechanical Stress in the Endothelium., [RefSeq, PubMed]; Phenome-wide analyses establish a specific association between aortic valve PALMD expression and calcific aortic valve stenosis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9H7E6;Q9NPM5;Q9NPM6;Q9NPS0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0016020 membrane;GO:0043197 dendritic spine", "go_biological_process": "GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9NP74-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08493-1", "uniprot_id": [ { "id": "PDE4C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08493", "type": "external" } ], "mass": 79902.0, "length": 712, "protein_name": "3',5'-cyclic-AMP phosphodiesterase 4C", "gene_name": "PDE4C", "organism": "Human", "refseq_name": "3',5'-cyclic-AMP phosphodiesterase 4C isoform 1", "refseq_ac": [ { "id": "NP_000914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000914", "type": "external" } ], "gene_names_uniprotkb": "PDE4C; DPDE1", "gene_names_refseq": "DPDE1; PDE21; PDE4C", "protein_names_uniprotkb": "3',5'-cyclic-AMP phosphodiesterase 4C; 3.1.4.53; DPDE1; PDE21; cAMP-specific phosphodiesterase 4C", "protein_names_refseq": "3',5'-cyclic-AMP phosphodiesterase 4C isoform 1; 3',5'-cyclic-AMP phosphodiesterase 4C; cAMP-specific 3',5'-cyclic phosphodiesterase 4C; cAMP-specific phosphodiesterase 4C; dunce-like phosphodiesterase E1; phosphodiesterase 4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila)", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:5143); (R-HSA-180024); (R-HSA-418555)", "pathway_count": 3, "publication_count": 95, "publication_id_list": "10574328;10604473;11007482;11030732;11237011;12036966;12058044;12065642;12106601;12180353;12860470;13549488;14671004;1517224;15302935;15765929;15769620;15951850;16313925;16687412;16923326;17168849;17535922;17727341;18044684;18577758;18767875;19105585;19876791;19929708;20068231;20381629;21036126;2163110;23783831;2417744;24687066;24842301;2491850;2553411;2553705;26417854;28228285;28411811;28649982;2871555;28832583;29242379;29443750;29557506;29602314;29632711;29769354;29786170;30379171;30524438;30833991;31154438;3127824;31279028;31399091;31844290;31848261;31983287;32226383;32497535;32502341;32540603;32618402;32715661;32983136;33049737;33141586;33592498;33968037;34932366;35051231;38774995;39894887;6085243;6087160;6296685;6330098;6501302;7843419;8340388;8413254;8514797;8663227;8672451;9099992;9263355;9371714;9417641;9651336", "class_list": "", "function": "Analysis of the effects of M2 macrophage-derived PDE4C on the prognosis, metastasis and immunotherapy benefit of osteosarcoma., [RefSeq, PubMed]; Data show that PDE4C is downregulated through promoter hypermethylation in glioma., [RefSeq, PubMed]; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KTC4;Q9UN44;Q9UN45;Q9UN46;Q9UPJ6", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.17", "type": "external" }, { "id": "3.1.4.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.53", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.6.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.25", "type": "external" }, { "id": "3.6.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.14", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity;GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005929 cilium", "go_biological_process": "GO:0007165 signal transduction;GO:0006198 cAMP catabolic process;GO:0141162 negative regulation of cAMP/PKA signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q08493-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06732-1", "uniprot_id": [ { "id": "ZN33B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06732", "type": "external" } ], "mass": 90683.0, "length": 778, "protein_name": "Zinc finger protein 33B", "gene_name": "ZNF33B", "organism": "Human", "refseq_name": "zinc finger protein 33B isoform 1", "refseq_ac": [ { "id": "NP_001291962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291962", "type": "external" } ], "gene_names_uniprotkb": "ZNF33B; KOX2; ZNF11B", "gene_names_refseq": "KOX2; KOX31; ZNF11B; ZNF33B", "protein_names_uniprotkb": "Zinc finger protein 33B; Zinc finger protein 11B; Zinc finger protein KOX2", "protein_names_refseq": "zinc finger protein 11b (KOX 2); zinc finger protein 33B isoform 1; zinc finger protein 33b (KOX 31)", "tax_id": 9606, "disease": "", "pathway": " (hsa:7582); (R-HSA-212436)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10235266;10330177;11237011;11395415;12566394;14519192;15175151;15896744;16606702;16719718;2163759;2288909;25418920;25576301;25892735;28218747;29437277;29557506;29769354;30315122;30410026;31844290;32157095;32938616;32983136;33717175;33912179;33968037;35580925;35953101;36284347;36581221;8183939;8464732;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the zinc finger family of proteins. This gene shows decreased expression in cumulus cells derived from patients undergoing controlled ovarian stimulation. This gene is present in a gene cluster with several related zinc finger genes in the pericentromeric region of chromosome 10. Pseudogenes have been identified on chromosomes 7 and 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]., [RefSeq]; Zinc finger protein 33B demonstrates sex interaction with atopy-related markers in childhood asthma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q06731;Q32MA2;Q86XY8;Q8NDW3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q06732-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3A8-1", "uniprot_id": [ { "id": "PARP8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3A8", "type": "external" } ], "mass": 95871.0, "length": 854, "protein_name": "Protein mono-ADP-ribosyltransferase PARP8", "gene_name": "PARP8", "organism": "Human", "refseq_name": "protein mono-ADP-ribosyltransferase PARP8 isoform 1", "refseq_ac": [ { "id": "NP_001171526", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171526", "type": "external" } ], "gene_names_uniprotkb": "PARP8", "gene_names_refseq": "ARTD16; PARP8; pART16", "protein_names_uniprotkb": "Protein mono-ADP-ribosyltransferase PARP8; 2.4.2.-; ADP-ribosyltransferase diphtheria toxin-like 16; ARTD16; PARP-8; Poly [ADP-ribose] polymerase 8", "protein_names_refseq": "ADP-ribosyltransferase diphtheria toxin-like 16; protein mono-ADP-ribosyltransferase PARP8 isoform 1; protein mono-ADP-ribosyltransferase PARP8", "tax_id": 9606, "disease": "", "pathway": " (hsa:79668); (R-HSA-196807); (R-HSA-9683610); (R-HSA-9694631)", "pathway_count": 4, "publication_count": 108, "publication_id_list": "10331643;10613898;11237011;11248244;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12790796;13563527;14516279;14966140;15090606;15137942;15381699;15674325;15848177;16103198;16118205;1637327;16690024;16959974;17402747;17525332;17604275;17641676;17868694;17914902;18411268;19106108;19531469;20106667;20388704;2129526;21504897;21699903;21933152;21994945;22701565;22822066;23212377;23230272;24715725;24717514;24847004;25043379;25418920;25531177;25576301;25645385;25892735;26154972;26375851;26598975;26992070;27846572;28904123;29199039;29437277;29557506;30379171;30410026;31844290;32029454;32157095;32357974;32387766;32488085;32637943;32645325;32723359;32817937;32877642;32897882;32906142;32938616;33087354;33141586;33248025;33298915;33392160;33537174;33592498;33691108;33912179;33968037;33997890;34029587;34087483;34185709;34509645;34593624;34932366;35051231;35580925;36010968;36215666;37938771;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3KRB7;Q6DHZ1;Q9H754", "ec_number_list": [ { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "type": "external" } ], "go_molecular_function": "GO:1990404 NAD+-protein mono-ADP-ribosyltransferase activity;GO:0019900 kinase binding;GO:0043539 protein serine/threonine kinase activator activity;GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0016020 membrane;GO:0071782 endoplasmic reticulum tubular network", "go_biological_process": "GO:0070213 protein auto-ADP-ribosylation;GO:0030968 endoplasmic reticulum unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q8N3A8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N485-1", "uniprot_id": [ { "id": "LIX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N485", "type": "external" } ], "mass": 31891.0, "length": 282, "protein_name": "Protein limb expression 1 homolog", "gene_name": "LIX1", "organism": "Human", "refseq_name": "protein limb expression 1 homolog", "refseq_ac": [ { "id": "NP_694966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694966", "type": "external" } ], "gene_names_uniprotkb": "LIX1; C5orf11", "gene_names_refseq": "C5orf11; LIX1; Lft", "protein_names_uniprotkb": "Protein limb expression 1 homolog", "protein_names_refseq": "Lix1 homolog; Lowfat homolog; limb expression 1; protein limb expression 1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:167410)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;18395445;19664890;19834535;29557506;30524438;31154438;32633461;35580925;36360322", "class_list": "", "function": "Data show that mutations in LIX1 do not contribute significantly to the cause of motor neuron diseases in the human population., [RefSeq, PubMed]; LIX1 regulates YAP activity and controls gastrointestinal cancer cell plasticity., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Single Nucleotide Polymorphism and mRNA Expression of LTF in Oral Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K4R9;Q8N7I2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0097352 autophagosome maturation", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8N485-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P1Q0-1", "uniprot_id": [ { "id": "LTMD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P1Q0", "type": "external" } ], "mass": 41790.0, "length": 360, "protein_name": "LETM1 domain-containing protein 1", "gene_name": "LETMD1", "organism": "Human", "refseq_name": "LETM1 domain-containing protein 1 isoform b", "refseq_ac": [ { "id": "NP_001230618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230618", "type": "external" } ], "gene_names_uniprotkb": "LETMD1", "gene_names_refseq": "1110019O13Rik; HCCR-1; HCCR-2; HCCR1; HCCR2; HCCR; HCRR-2; LETMD1; SLC55A3", "protein_names_uniprotkb": "LETM1 domain-containing protein 1; Cervical cancer 1 proto-oncogene protein p40; Cervical cancer proto-oncogene 2 protein; HCCR-1; HCRR-2", "protein_names_refseq": "LETM1 domain-containing protein 1 isoform b; cervical cancer 1 proto-oncogene protein p40; cervical cancer proto-oncogene 2 protein; epididymis secretory sperm binding protein; human cervical cancer oncogene; regulator of TP53", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); uterine cancer (Disease Ontology:DOID:363); ovarian carcinoma (Disease Ontology:DOID:4001); renal carcinoma (Disease Ontology:DOID:4451); stomach carcinoma (Disease Ontology:DOID:5517)", "pathway": " (hsa:25875)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;12061725;12879013;14691448;16278390;17943721;18045496;23481700;25892735;26992070;27920218;28218747;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29769354;30524438;31844290;31980577;32157095;32350084;32387766;32897882;32938616;32983136;33298915;34357683;34932366;35051231;35561310;35580925;35818261;35818268;36284347;37769890;39894887", "class_list": "", "function": "HCCR oncoprotein has a role in development of human breast cancer, [RefSeq, PubMed]; HCCR-2 probably represents a new oncogene that is related to tumorigenesis, functioning as a negative regulator of the p53 tumor suppressor, [RefSeq, PubMed]; HCCR-2 represents an oncoprotein that is related to breast cancer development and regulation of the p53 tumor suppressor., [RefSeq, PubMed]; Human, similar to bacterial ribosomal protein L14 and yeast L22, gene L14.22 (clone 507E08), over-expressed in gliomas., [RefSeq, PubMed]; LETMD1, a target of KLF4, hinders endothelial inflammation and pyroptosis: A protective mechanism in the pathogenesis of atherosclerosis., [RefSeq, PubMed]; MiR-494 Inhibits the Proliferation, Migration and Invasion of Cervical Cancer Cells by Regulating LETMD1. Publication Status: Online-Only, [RefSeq, PubMed]; Plays an essential role for mitochondrial structure and function, as well as thermogenesis of brown adipocytes. In brown adipose tissue also localizes in the nucleus where it interacts with the chromatin remodeler SMARCA4 to regulate thermogenic genes expression, such as UCP1 (By similarity). May regulate phagocytosis and inflammatory responses to lipopolysaccharide in macrophages (PubMed:31980577). Involved in tumorigenesis and may function as a negative regulator of the p53/TP53 (PubMed:12879013)., [UniProtKB, UniProtKB]; The regulating role of miR-494 on HCCR1 in cervical cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NER7;B3KXK7;Q6X2E4;Q6X2E5;Q7L2G9;Q7L690;Q8WXW6;Q96PK7;Q9BY59;Q9Y3X3", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0043022 ribosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0050727 regulation of inflammatory response;GO:0007005 mitochondrion organization;GO:0120162 positive regulation of cold-induced thermogenesis;GO:0050764 regulation of phagocytosis", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q6P1Q0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15366-1", "uniprot_id": [ { "id": "PCBP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15366", "type": "external" } ], "mass": 38580.0, "length": 365, "protein_name": "Poly(rC)-binding protein 2", "gene_name": "PCBP2", "organism": "Human", "refseq_name": "poly(rC)-binding protein 2 isoform c", "refseq_ac": [ { "id": "NP_001092090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092090", "type": "external" } ], "gene_names_uniprotkb": "PCBP2", "gene_names_refseq": "HNRNPE2; HNRPE2; PCBP2; hnRNP-E2", "protein_names_uniprotkb": "Poly(rC)-binding protein 2; Alpha-CP2; Heterogeneous nuclear ribonucleoprotein E2; hnRNP E2", "protein_names_refseq": "alpha-CP2; epididymis secretory sperm binding protein; heterogeneous nuclear ribonucleoprotein E2; heterogenous nuclear ribonucleoprotein E2; hnRNP E2; poly(rC)-binding protein 2 isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:5094); (R-HSA-72163); (R-HSA-72203); (R-HSA-936440); (R-HSA-9692916); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 298, "publication_id_list": "10.1101/2023.09.13.557529;10669729;10882114;11014198;11060040;11101529;11233976;11237011;11747608;11991638;12176931;12411573;12414731;12414943;12477934;14519844;14625303;14654843;14713954;14749727;14762106;15037765;15084397;15208624;15565158;16186123;16314458;16408927;16699525;16715065;16809785;17035307;17081983;17095540;17128255;17270291;17332742;17412287;17426136;17475908;17526645;17596301;17606899;17761676;17924679;17991829;18057259;18200010;18288197;18322460;18446792;18593880;18669648;18691976;18701464;19029303;19103666;19125153;19165350;19217410;19380580;19398035;19536130;19690332;19881509;19893624;20068231;20304918;20423332;20434986;20695905;20980672;21295486;21406692;21536652;21654843;2176635;21911577;22046132;22110043;22253733;22312431;22365833;22424782;22645359;22813749;22898188;22959432;22961380;23186163;23222130;23236153;23345524;23481700;23483519;23874216;24076191;24149845;24196718;24304693;24316715;24371074;24407421;24448447;24509444;24622840;24714562;24715725;24737827;24854014;24914973;24981863;25135833;25301780;25301781;25555158;25576301;2558966;25645385;25764917;25810538;25892735;25907116;26092250;26154972;26320399;26375851;26378163;26385511;26420826;26758079;26969736;26992070;27108190;27164085;27203180;27377154;27397612;27452731;27459055;27543614;27600516;27683217;27846572;27862975;27920218;28062851;28076346;28096519;28148787;28218747;28228285;28446606;28467828;28502770;28510447;28514659;28604694;28649982;28781166;28832583;28855257;28860189;28871256;28904123;28911096;29186539;29242379;29274231;29294448;29301961;29314611;29331515;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632711;2963332;29786170;29789417;29902443;30139799;30185776;30192525;30257008;30315122;30315277;30410026;30429286;30484775;30524438;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31034780;31154438;31217245;31222486;31231549;31409651;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32179686;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32728199;32816001;32897882;32938616;32983136;33043033;33060197;33123756;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34301950;34357683;34405274;34433824;34509645;34725712;34822310;34932366;35051231;35083852;35138101;35177536;35215846;35251023;35318648;35322803;35385551;35561310;35580925;36010968;36215666;36241641;36284347;37217939;3757028;37938771;37941151;38599240;38665916;38768927;39235355;39430249;40307207;40914422;7607214;8352591;8566756;8608946;9016565;9242493;9409616;9512519;9524131;9539711;9659921;9671485;9701291;9731529;9989503", "class_list": "", "function": "(Microbial infection) In case of infection by poliovirus, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:12414943, PubMed:24371074). Also plays a role in initiation of viral RNA replication in concert with the viral protein 3CD (PubMed:12414943)., [UniProtKB, PubMed, PubMed]; Association of poly(rC)-binding protein-2 with sideroflexin-3 through TOM20 as an iron entry pathway to mitochondria., [RefSeq, PubMed]; Binding of microRNA-122 to the hepatitis C virus 5' untranslated region modifies interactions with poly(C) binding protein 2 and the NS5B viral polymerase., [RefSeq, PubMed]; Circ_0005397 inhibits ferroptosis of pancreatic cancer cells by up-regulating PCBP2 through KAT6A/H3K9Ac., [RefSeq, PubMed]; HNF4A-AS1 inhibits the progression of hepatocellular carcinoma by promoting the ubiquitin-modulated degradation of PCBP2 and suppressing the stability of ARG2 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; Single-stranded nucleic acid binding protein that binds preferentially to oligo dC (PubMed:12414943, PubMed:7607214). Major cellular poly(rC)-binding protein (PubMed:12414943). Also binds poly(rU) (PubMed:12414943). Acts as a negative regulator of antiviral signaling (PubMed:19881509, PubMed:35322803). Negatively regulates cellular antiviral responses mediated by MAVS signaling (PubMed:19881509). It acts as an adapter between MAVS and the E3 ubiquitin ligase ITCH, therefore triggering MAVS ubiquitination and degradation (PubMed:19881509). Negativeley regulates the cGAS-STING pathway via interaction with CGAS, preventing the formation of liquid-like droplets in which CGAS is activated (PubMed:35322803). Together with PCBP1, required for erythropoiesis, possibly by regulating mRNA splicing (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; The protein encoded by this gene appears to be multifunctional. Along with PCBP-1 and hnRNPK, it is one of the major cellular poly(rC)-binding proteins. The encoded protein contains three K-homologous (KH) domains which may be involved in RNA binding. Together with PCBP-1, this protein also functions as a translational coactivator of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES, promoting poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. This multiexon structural mRNA is thought to be retrotransposed to generate PCBP-1, an intronless gene with functions similar to that of PCBP2. This gene and PCBP-1 have paralogous genes (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. This gene also has two processed pseudogenes (PCBP2P1 and PCBP2P2). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2018]., [RefSeq]; UKLF/PCBP2 axis governs the colorectal cancer development by transcriptionally activating SLC39A4., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K7X6;B4DXP5;F8VYL7;G3V0E8;I6L8F9;Q32Q82;Q59HD4;Q68Y55;Q6IPF4;Q6PKG5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0019899 enzyme binding;GO:0031625 ubiquitin protein ligase binding;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0016071 mRNA metabolic process;GO:0075522 IRES-dependent viral translational initiation;GO:0045087 innate immune response;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 30.7, "record_id": "Q15366-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14737-1", "uniprot_id": [ { "id": "PDCD5_HUMAN", "url": "https://www.uniprot.org/uniprot/O14737", "type": "external" } ], "mass": 14285.0, "length": 125, "protein_name": "Programmed cell death protein 5", "gene_name": "PDCD5", "organism": "Human", "refseq_name": "programmed cell death protein 5", "refseq_ac": [ { "id": "NP_004699", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004699", "type": "external" } ], "gene_names_uniprotkb": "PDCD5; TFAR19", "gene_names_refseq": "PDCD5; TFAR19", "protein_names_uniprotkb": "Programmed cell death protein 5; Protein TFAR19; TF-1 cell apoptosis-related protein 19", "protein_names_refseq": "TF-1 cell apoptosis-related protein 19; TF1 cell apoptosis-related gene 19; TFAR19 novel apoptosis-related; programmed cell death protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:9141)", "pathway_count": 1, "publication_count": 105, "publication_id_list": "11237011;12665801;15033527;15302935;16083422;17081983;18318008;18452278;18669648;19308289;19358820;19413330;19415658;19608861;19616514;19651622;19690332;20068231;20166139;21406692;22223895;22424782;22544926;22898188;22914926;23186163;24275569;24366607;24715725;25576301;25645385;26077467;26154972;26768311;26992070;27452731;27543614;27600516;27846572;27920218;28051100;28063628;28228285;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30192525;30315122;30524438;30779550;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33214551;33215428;33298915;33392160;33537174;33592498;33691108;33936100;33968037;33981976;34011956;34019948;34087483;34171305;34211107;34405274;34433824;34509645;35051231;35154160;35251023;35561310;35580925;36010968;36215666;36241641;36266728;36827466;37217939;9920759", "class_list": "", "function": "Cancer-testis non-coding RNA LEF1-AS1 regulates the nuclear translocation of PDCD5 and suppresses its interaction with p53 signaling: a novel target for immunotherapy in esophageal squamous cell carcinoma., [RefSeq, PubMed]; Club cell-specific role of programmed cell death 5 in pulmonary fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; In response to DNA damage, associates with TP53/p53 to prevent MDM2-mediated degradation of TP53 and promote TP53-mediated signaling (PubMed:19616514, PubMed:22914926, PubMed:28051100). Also protects KAT5/TIP60 from degradation, which further promotes TP53/p53-mediated signaling (PubMed:19308289)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; PDCD5 contributes to maintaining a basal pool of Tip60 and its HAT activity, [RefSeq, PubMed]; PDCD5 inhibits progression of renal cell carcinoma by promoting T cell immunity: with the involvement of the HDAC3/microRNA-195-5p/SGK1. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic potentials of miRNA-19a-3p and PDCD5 in nasopharynx carcinoma., [RefSeq, PubMed]; Results imply that the PDCD5 gene may be a target gene under the control of some important apoptosis-related transcriptional factors during the cell apoptosis., [RefSeq, PubMed]; Studies of structure-function relationship of PDCD5 by multidimensional NMR methods and flow cytometer and fluorescence microscopey., [RefSeq, PubMed]; The effects of the secondary structure of PDCD5 on its tertiary structure and function are reported., [RefSeq, PubMed]; This gene encodes a protein that is upregulated during apoptosis where it translocates rapidly from the cytoplasm to the nucleus. The encoded protein may be an important regulator of K(lysine) acetyltransferase 5 (a protein involved in transcription, DNA damage response and cell cycle control) by inhibiting its proteasome-dependent degradation. Pseudogenes have been identified on chromosomes 5 and 12 [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DE64;Q53YC9;Q6IB70", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008201 heparin binding;GO:0048487 beta-tubulin binding;GO:0010698 acetyltransferase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0042981 regulation of apoptotic process;GO:0071560 cellular response to transforming growth factor beta stimulus", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "O14737-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4F3-1", "uniprot_id": [ { "id": "MARF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4F3", "type": "external" } ], "mass": 192859.0, "length": 1742, "protein_name": "Meiosis regulator and mRNA stability factor 1", "gene_name": "MARF1", "organism": "Human", "refseq_name": "meiosis regulator and mRNA stability factor 1 isoform 2", "refseq_ac": [ { "id": "NP_001171927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171927", "type": "external" } ], "gene_names_uniprotkb": "MARF1; KIAA0430; LKAP", "gene_names_refseq": "KIAA0430; LKAP; LMKB; MARF1; PPP1R34", "protein_names_uniprotkb": "Meiosis regulator and mRNA stability factor 1; Limkain-b1; Meiosis arrest female protein 1", "protein_names_refseq": "limkain-b1; meiosis arrest female 1; meiosis arrest female protein 1; meiosis regulator and mRNA stability factor 1 isoform 2; protein phosphatase 1, regulatory subunit 34", "tax_id": 9606, "disease": "", "pathway": " (hsa:9665)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "11237011;15932519;17081983;18669648;18767875;19651622;19690332;20068231;20302647;20305267;23186163;23481700;24715725;25576301;25645385;25892735;26992070;27600516;27920218;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30364987;30410026;30429286;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32510323;32938616;32983136;33298915;33537174;33912179;33968037;33981976;34171305;34185709;34357683;34932366;35051231;35251023;35318648;35580925;35801873;36010968;36241641;37074911;37938771", "class_list": "", "function": "A non-canonical role for the EDC4 decapping factor in regulating MARF1-mediated mRNA decay. Publication Status: Online-Only, [RefSeq, PubMed]; Essential regulator of oogenesis required for female meiotic progression to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Probably acts via some RNA metabolic process, equivalent to the piRNA system in males, which mediates the repression of transposable elements during meiosis by forming complexes composed of RNAs and governs the methylation and subsequent repression of transposons. Also required to protect from DNA double-strand breaks (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Human MARF1 is an endoribonuclease that interacts with the DCP1:DCP2 decapping complex and degrades target mRNAs., [RefSeq, PubMed]; P-bodies directly regulate MARF1-mediated mRNA decay in human cells., [RefSeq, PubMed]; This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 54, "reported_interactions": 0, "missing_score": 9474, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MSK2;B2RNX2;B4DYY9;B7ZMG1;B7ZMG2;F8VV09;Q6P1R6;Q8WYR2;Q9Y4J9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0004540 RNA nuclease activity;GO:1905762 CCR4-NOT complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005777 peroxisome;GO:0016020 membrane", "go_biological_process": "GO:0007143 female meiotic nuclear division;GO:0010468 regulation of gene expression;GO:0048477 oogenesis;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9Y4F3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RQ3-1", "uniprot_id": [ { "id": "MCCA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RQ3", "type": "external" } ], "mass": 80473.0, "length": 725, "protein_name": "Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial", "gene_name": "MCCC1", "organism": "Human", "refseq_name": "methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001280202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280202", "type": "external" } ], "gene_names_uniprotkb": "MCCC1; MCCA", "gene_names_refseq": "MCC-B; MCCA; MCCC1; MCCCalpha", "protein_names_uniprotkb": "Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial; 3-methylcrotonyl-CoA carboxylase 1; 3-methylcrotonyl-CoA carboxylase biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha; 6.4.1.4; MCCase subunit alpha", "protein_names_refseq": "3-methylcrotonyl-CoA carboxylase 1; 3-methylcrotonyl-CoA carboxylase biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha; MCCase subunit alpha; methylcrotonoyl-CoA carboxylase 1 (alpha); methylcrotonoyl-CoA carboxylase alpha; methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 2; methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial; methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)", "tax_id": 9606, "disease": "3-methylcrotonyl-CoA carboxylase deficiency (Disease Ontology:DOID:0050710); 3-methylcrotonyl-CoA carboxylase 1 deficiency (Disease Ontology:DOID:0080579)", "pathway": " (hsa:56922); (R-HSA-196780); (R-HSA-3371599); (R-HSA-70895); (R-HSA-9909438)", "pathway_count": 5, "publication_count": 120, "publication_id_list": "10.1101/2023.09.13.557529;10064314;10190325;10329687;10334869;10485305;10677481;10832746;10947204;11013134;11170888;11181649;11185745;11237011;11264579;11401427;11406611;11735028;11738050;12124727;12269802;12359132;12434311;12646417;12696021;13416257;14752098;14766011;15166214;1527093;15342248;15359379;15576032;16010683;16023992;16134170;16141215;16150625;17360195;17371050;17968484;18297087;20153287;21071250;21183659;22123817;22150417;22264772;22291014;22642865;22956686;23438705;23485643;24397554;24449431;24715725;25382614;25576301;25880248;26251176;26375851;26811146;26992070;27600516;27601257;28063628;28514659;2868710;28887846;28904123;29242379;29351928;29393594;29557506;29632046;29789417;30192525;30315122;3082934;30833945;31435015;31844290;32357974;32387766;32561715;32938616;33141586;33214551;33298915;33392160;33559030;33717175;33912179;33968037;34019948;34087483;34357683;34725712;34932366;35051231;35083852;35494241;35580925;3597357;37217939;37805164;6883721;6928646;7356336;7509806;7732023;7842009;8817339;8824301;8930409;9165094;9187484;9214289;9630604;9889013", "class_list": "", "function": "Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry., [RefSeq, PubMed]; Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Methylcrotonyl-CoA carboxylase subunit 1 (MCCA) regulates multidrug resistance in multiple myeloma., [RefSeq, PubMed]; This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q59ES4;Q9H959;Q9NS97", "ec_number_list": [ { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "6.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.1", "type": "external" }, { "id": "6.3.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.-", "type": "external" }, { "id": "6.3.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.10", "type": "external" }, { "id": "6.3.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.11", "type": "external" }, { "id": "6.3.4.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.15", "type": "external" }, { "id": "6.3.4.9", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.9", "type": "external" }, { "id": "6.4.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.4", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0004075 biotin carboxylase activity;GO:0009374 biotin binding;GO:0004485 methylcrotonoyl-CoA carboxylase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:1905202 methylcrotonoyl-CoA carboxylase complex", "go_biological_process": "GO:0006768 biotin metabolic process;GO:0009083 branched-chain amino acid catabolic process;GO:0006552 L-leucine catabolic process", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q96RQ3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P32322-1", "uniprot_id": [ { "id": "P5CR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P32322", "type": "external" } ], "mass": 33361.0, "length": 319, "protein_name": "Pyrroline-5-carboxylate reductase 1, mitochondrial", "gene_name": "PYCR1", "organism": "Human", "refseq_name": "pyrroline-5-carboxylate reductase 1, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_001269209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269209", "type": "external" } ], "gene_names_uniprotkb": "PYCR1", "gene_names_refseq": "ARCL2B; ARCL3B; P5CR; P5C; PIG45; PP222; PRO3; PYCR1; PYCR", "protein_names_uniprotkb": "Pyrroline-5-carboxylate reductase 1, mitochondrial; 1.5.1.2; P5C reductase 1; P5CR 1", "protein_names_refseq": "P5C reductase 1; proliferation-inducing protein 45; pyrroline-5-carboxylate reductase 1, mitochondrial isoform 1; pyrroline-5-carboxylate reductase 1, mitochondrial", "tax_id": 9606, "disease": "autosomal recessive cutis laxa type IIB (Disease Ontology:DOID:0070137); autosomal recessive cutis laxa type IIIB (Disease Ontology:DOID:0070138)", "pathway": " (hsa:5831); (R-HSA-8964539)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "11237011;11903050;12054821;15364907;16267323;16730026;1730675;1737786;18005987;19338303;19576563;19648921;20068231;20657015;22052856;23024808;23186163;23481700;24930674;25865492;26154972;26758079;26902786;26992070;2722838;27846572;28258219;28510447;28904123;31217245;31422819;31844290;32157095;32387766;32938616;33141586;33298915;33465208;33912179;33936100;33968037;34211107;34229054;34561969;35051231;35083852;35561310;35580925;37217939;37777542;37845207;37982568;38665916;39025723;39294443;4052435;40596516;429360;6819292;7883047;8294935;9514741", "class_list": "", "function": "A micropeptide TREMP encoded by lincR-PPP2R5C promotes Th2 cell differentiation by interacting with PYCR1 in allergic airway inflammation., [RefSeq, PubMed]; Crosstalk between FTH1 and PYCR1 dysregulates proline metabolism and mediates cell growth in KRAS-mutant pancreatic cancer cells. Erratum:[Exp Mol Med. 2025 Mar;57(3):700-701. doi: 10.1038/s12276-025-01437-w. PMID: 40148571], [RefSeq, PubMed]; IGF1R-phosphorylated PYCR1 facilitates ELK4 transcriptional activity and sustains tumor growth under hypoxia. Publication Status: Online-Only, [RefSeq, PubMed]; Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:16730026, PubMed:19648921, PubMed:23024808, PubMed:28258219). At physiologic concentrations, has higher specific activity in the presence of NADH (PubMed:16730026, PubMed:23024808). Involved in the cellular response to oxidative stress (PubMed:16730026, PubMed:19648921)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma: A Clinicopathologic, Prognostic, and Immunohistochemical Study., [RefSeq, PubMed]; Pyrroline-5-carboxylate reductase 1 reprograms proline metabolism to drive breast cancer stemness under psychological stress. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NFM2;B4DMU0;Q6FHI4;Q96DI6;Q9HBQ4", "ec_number_list": [ { "id": "1.5.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.1.2", "type": "external" } ], "go_molecular_function": "GO:0004735 pyrroline-5-carboxylate reductase activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:1902792 pyrroline-5-carboxylate reductase complex", "go_biological_process": "GO:0051881 regulation of mitochondrial membrane potential;GO:0034599 cellular response to oxidative stress;GO:0055129 L-proline biosynthetic process;GO:1903377 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "P32322-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4S9-1", "uniprot_id": [ { "id": "MALD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4S9", "type": "external" } ], "mass": 64168.0, "length": 558, "protein_name": "MARVEL domain-containing protein 2", "gene_name": "MARVELD2", "organism": "Human", "refseq_name": "MARVEL domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001033692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033692", "type": "external" } ], "gene_names_uniprotkb": "MARVELD2; TRIC", "gene_names_refseq": "DFNB49; MARVD2; MARVELD2; MRVLDC2; Tric", "protein_names_uniprotkb": "MARVEL domain-containing protein 2; Tricellulin", "protein_names_refseq": "MARVEL (membrane-associating) domain containing 2; MARVEL domain-containing protein 2 isoform 1; MARVEL domain-containing protein 2; tricellulin", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 49 (Disease Ontology:DOID:0110506)", "pathway": " (hsa:153562)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;15538632;16365161;17081983;17186462;18669648;18691976;23186163;24715725;28436082;28661558;29393594;32161166;32350084;33000262;33015857;35051231;36921056;37929963;39587316", "class_list": "", "function": "Association of tricellulin expression with poor colorectal cancer prognosis and metastasis., [RefSeq, PubMed]; Co-occurrence of two rare genetic diseases: A potential pitfall for prenatal diagnosis in successive pregnancies., [RefSeq, PubMed]; Maps to 5q12.3-q14.1., [RefSeq, PubMed]; Plays a role in the formation of tricellular tight junctions and of epithelial barriers (By similarity). Required for normal hearing via its role in the separation of the endolymphatic and perilymphatic spaces of the organ of Corti in the inner ear, and for normal survival of hair cells in the organ of Corti (PubMed:17186462)., [UniProtKB, PubMed, UniProtKB]; SARS-CoV-2 NSP12 associates with TRiC and the P323L substitution acts as a host adaption., [RefSeq, PubMed]; Structural basis of plp2-mediated cytoskeletal protein folding by TRiC/CCT., [RefSeq, PubMed]; The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1BQX0;A1BQX1;A8KA97;Q96NM9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005923 bicellular tight junction;GO:0016323 basolateral plasma membrane;GO:0030054 cell junction;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0061028 establishment of endothelial barrier;GO:0007605 sensory perception of sound;GO:0070830 bicellular tight junction assembly;GO:0045216 cell-cell junction organization", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8N4S9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05165-1", "uniprot_id": [ { "id": "PCCA_HUMAN", "url": "https://www.uniprot.org/uniprot/P05165", "type": "external" } ], "mass": 80059.0, "length": 728, "protein_name": "Propionyl-CoA carboxylase alpha chain, mitochondrial", "gene_name": "PCCA", "organism": "Human", "refseq_name": "propionyl-CoA carboxylase alpha chain, mitochondrial isoform a precursor", "refseq_ac": [ { "id": "NP_000273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000273", "type": "external" } ], "gene_names_uniprotkb": "PCCA", "gene_names_refseq": "PCCA", "protein_names_uniprotkb": "Propionyl-CoA carboxylase alpha chain, mitochondrial; 6.4.1.3; PCCase subunit alpha; Propanoyl-CoA:carbon dioxide ligase subunit alpha", "protein_names_refseq": "PCCase alpha subunit; pccA complementation group; propanoyl-CoA:carbon dioxide ligase alpha subunit; propionyl CoA carboxylase, alpha polypeptide; propionyl Coenzyme A carboxylase, alpha polypeptide; propionyl-CoA carboxylase alpha chain, mitochondrial isoform a precursor; propionyl-CoA carboxylase alpha chain, mitochondrial; propionyl-CoA carboxylase alpha subunit", "tax_id": 9606, "disease": "propionic acidemia (Disease Ontology:DOID:14701); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:5095); (R-HSA-196780); (R-HSA-3371599); (R-HSA-71032)", "pathway_count": 4, "publication_count": 75, "publication_id_list": "10064314;10101253;10190325;10329019;10329687;10334869;10502773;10677481;11185745;11237011;11481338;11592820;11735028;12124727;12438653;12559849;12646417;13752080;13934211;14766011;15059621;15523652;16023992;16134170;16150625;16281286;16866376;18297087;20068231;20153287;20443544;20725044;20876572;21138732;21183659;22123817;23438705;2567699;25892735;26811146;2740237;27920218;2868710;28904123;29769354;30315122;31492838;31844290;32119511;32157095;32357974;32387766;32938616;33298915;33923806;34357683;34405274;34509645;3460076;34725712;35083852;3555348;36010968;37217939;38727222;6765947;6883721;7509806;7732023;7753853;7842009;8434582;8817339;8930409;9630604", "class_list": "", "function": "Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing. Publication Status: Online-Only, [RefSeq, PubMed]; The mitochondrial carboxylase PCCA interacts with Listeria monocytogenes phospholipase PlcB to modulate bacterial survival., [RefSeq, PubMed]; The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]., [RefSeq]; This is one of the 2 subunits of the biotin-dependent propionyl-CoA carboxylase (PCC), a mitochondrial enzyme involved in the catabolism of odd chain fatty acids, branched-chain amino acids isoleucine, threonine, methionine, and valine and other metabolites (PubMed:6765947, PubMed:8434582). Propionyl-CoA carboxylase catalyzes the carboxylation of propionyl-CoA/propanoyl-CoA to D-methylmalonyl-CoA/(S)-methylmalonyl-CoA (PubMed:10101253, PubMed:6765947, PubMed:8434582). Within the holoenzyme, the alpha subunit catalyzes the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain, while the beta subunit then transfers the carboxyl group from carboxylated biotin to propionyl-CoA (By similarity). Propionyl-CoA carboxylase also significantly acts on butyryl-CoA/butanoyl-CoA, which is converted to ethylmalonyl-CoA/(2S)-ethylmalonyl-CoA at a much lower rate (PubMed:6765947). Other alternative minor substrates include (2E)-butenoyl-CoA/crotonoyl-CoA (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DKY8;B4DPF9;C9JPQ8;Q15979;Q8WXQ7", "ec_number_list": [ { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "6.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.1", "type": "external" }, { "id": "6.3.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.-", "type": "external" }, { "id": "6.3.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.10", "type": "external" }, { "id": "6.3.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.11", "type": "external" }, { "id": "6.3.4.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.15", "type": "external" }, { "id": "6.3.4.9", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.9", "type": "external" }, { "id": "6.4.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.4", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0046872 metal ion binding;GO:0009374 biotin binding;GO:0004658 propionyl-CoA carboxylase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0009081 branched-chain amino acid metabolic process;GO:0019626 short-chain fatty acid catabolic process;GO:1901290 succinyl-CoA biosynthetic process;GO:0016042 lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "P05165-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N145-1", "uniprot_id": [ { "id": "LGI3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N145", "type": "external" } ], "mass": 61704.0, "length": 548, "protein_name": "Leucine-rich repeat LGI family member 3", "gene_name": "LGI3", "organism": "Human", "refseq_name": "leucine-rich repeat LGI family member 3 precursor", "refseq_ac": [ { "id": "NP_644807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_644807", "type": "external" } ], "gene_names_uniprotkb": "LGI3; LGIL4; PRO23199", "gene_names_refseq": "IDDMDS; LGI3; LGIL4", "protein_names_uniprotkb": "Leucine-rich repeat LGI family member 3; LGI1-like protein 4; Leucine-rich glioma-inactivated protein 3", "protein_names_refseq": "LGI1-like protein 4; leucine-rich glioma-inactivated protein 3; leucine-rich repeat LGI family member 3 precursor", "tax_id": 9606, "disease": "intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects (MONDO:MONDO:0859277)", "pathway": " (hsa:203190); (R-HSA-5682910)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "11237011;12023020;12095917;12217514;12975309;16990550;17387609;18628660;18974846;20162351;20220021;20461023;21829378;25645385;27600516;29257304;30091803;31627033;32157095;35751164;35948005;36010968", "class_list": "", "function": "LGI3 is secreted and binds to ADAM22 via TRIF-dependent NF-kappaB pathway in response to LPS in human keratinocytes., [RefSeq, PubMed]; LGI3 promotes human keratinocyte migration in high-glucose environments by increasing the expression of beta-catenin., [RefSeq, PubMed]; May participate in the regulation of neuronal exocytosis., [UniProtKB]; Taken together, these results suggest that LGI3 promotes keratinocyte differentiation., [RefSeq, PubMed]; The expression of LGI3 was significantly associated with the prognosis of brain, colorectal and lung cancer., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A5PLP2;Q86TL4;Q8N296", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0008021 synaptic vesicle;GO:0044224 juxtaparanode region of axon", "go_biological_process": "GO:0006887 exocytosis;GO:0017157 regulation of exocytosis", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8N145-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05166-1", "uniprot_id": [ { "id": "PCCB_HUMAN", "url": "https://www.uniprot.org/uniprot/P05166", "type": "external" } ], "mass": 58216.0, "length": 539, "protein_name": "Propionyl-CoA carboxylase beta chain, mitochondrial", "gene_name": "PCCB", "organism": "Human", "refseq_name": "propionyl-CoA carboxylase beta chain, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_000523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000523", "type": "external" } ], "gene_names_uniprotkb": "PCCB", "gene_names_refseq": "PCCB", "protein_names_uniprotkb": "Propionyl-CoA carboxylase beta chain, mitochondrial; 6.4.1.3; PCCase subunit beta; Propanoyl-CoA:carbon dioxide ligase subunit beta", "protein_names_refseq": "PCCase subunit beta; propanoyl-CoA:carbon dioxide ligase subunit beta; propionyl CoA carboxylase, beta polypeptide; propionyl Coenzyme A carboxylase, beta polypeptide; propionyl-CoA carboxylase beta chain, mitochondrial isoform 1 precursor; propionyl-CoA carboxylase beta chain, mitochondrial; propionyl-CoA carboxylase beta subunit", "tax_id": 9606, "disease": "propionic acidemia (Disease Ontology:DOID:14701); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:5096); (R-HSA-196780); (R-HSA-3371599); (R-HSA-71032); (R-HSA-9837999)", "pathway_count": 5, "publication_count": 142, "publication_id_list": "10064314;10190325;10329687;10334869;10447268;10502773;10677481;11185745;11237011;11481338;11735028;11749052;11923310;12124727;12189489;12198491;12438653;12559849;12646417;13752080;13934211;14623864;14766011;15059621;15522782;15523652;15870080;15890657;16023992;16115876;16134170;16150625;16281286;16866376;17101804;17297443;17579211;18297087;19841671;20153287;20725044;20876572;21138732;21183659;2154743;22123817;22262461;22424782;22544926;22645359;22710082;22898188;23201127;23481700;23931759;24275569;24315374;24520911;24715725;25576301;25645385;2567699;25892735;26154972;26375851;26504172;26768311;26923599;26992070;27496948;27600516;27642048;27846572;28377575;28396416;2868710;28904123;29301859;29437277;29493099;29557506;29932645;30120231;30379171;30429286;31092671;31217245;31327635;31695197;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33257573;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;3460076;34704252;34943861;35051231;35870450;36010968;36215666;36241641;36284347;36629048;37620341;37776842;37938771;6765947;6883721;7509806;7623837;7732023;7842009;8023851;8188292;8225321;8411997;8817339;8930409;9630604;9683601", "class_list": "", "function": "A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue., [RefSeq, PubMed]; Human forebrain organoid-based multi-omics analyses of PCCB as a schizophrenia associated gene linked to GABAergic pathways. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]., [RefSeq]; This is one of the 2 subunits of the biotin-dependent propionyl-CoA carboxylase (PCC), a mitochondrial enzyme involved in the catabolism of odd chain fatty acids, branched-chain amino acids isoleucine, threonine, methionine, and valine and other metabolites (PubMed:15890657, PubMed:6765947). Propionyl-CoA carboxylase catalyzes the carboxylation of propionyl-CoA/propanoyl-CoA to D-methylmalonyl-CoA/(S)-methylmalonyl-CoA (PubMed:15890657, PubMed:6765947). Within the holoenzyme, the alpha subunit catalyzes the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain, while the beta subunit then transfers the carboxyl group from carboxylated biotin to propionyl-CoA (By similarity). Propionyl-CoA carboxylase also significantly acts on butyryl-CoA/butanoyl-CoA, which is converted to ethylmalonyl-CoA/(2S)-ethylmalonyl-CoA at a much lower rate (PubMed:6765947). Other alternative minor substrates include (2E)-butenoyl-CoA/crotonoyl-CoA (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z2Z4;Q16813;Q96CX0", "ec_number_list": [ { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "4.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.2", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "6.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.1", "type": "external" }, { "id": "4.98.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.98.1.1", "type": "external" }, { "id": "1.1.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.38", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" }, { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "1.3.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.1", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "6.3.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.-", "type": "external" }, { "id": "6.3.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.10", "type": "external" }, { "id": "6.3.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.11", "type": "external" }, { "id": "6.3.4.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.15", "type": "external" }, { "id": "6.3.4.9", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.9", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "2.7.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.23", "type": "external" }, { "id": "6.4.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.4", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004658 propionyl-CoA carboxylase activity;GO:0003989 acetyl-CoA carboxylase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0009317 acetyl-CoA carboxylase complex", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0009081 branched-chain amino acid metabolic process;GO:0019626 short-chain fatty acid catabolic process;GO:0006633 fatty acid biosynthetic process;GO:0009062 fatty acid catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "P05166-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P0N0-1", "uniprot_id": [ { "id": "M18BP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P0N0", "type": "external" } ], "mass": 129085.0, "length": 1132, "protein_name": "Mis18-binding protein 1", "gene_name": "MIS18BP1", "organism": "Human", "refseq_name": "mis18-binding protein 1", "refseq_ac": [ { "id": "NP_060823", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060823", "type": "external" } ], "gene_names_uniprotkb": "MIS18BP1; C14orf106; KIAA1903; KNL2; M18BP1", "gene_names_refseq": "C14orf106; HSA242977; KNL2; M18BP1; MIS18BP1", "protein_names_uniprotkb": "Mis18-binding protein 1; HsKNL-2; Kinetochore-associated protein KNL-2 homolog; P243", "protein_names_refseq": "P243; hsKNL-2; kinetochore null 2 homolog; kinetochore-associated protein KNL-2 homolog; mis18-binding protein 1; putative protein p243 which interacts with transcription factor Sp1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55320); (R-HSA-606279); (R-HSA-69273)", "pathway_count": 3, "publication_count": 130, "publication_id_list": "10393926;10395539;10600115;10652300;10827953;10976766;11063929;11237011;11238451;11313932;11897663;11907280;12411508;12754270;1384126;15024056;15369671;15456846;15572030;16565220;16582612;16622420;17081983;1717476;17199038;17339379;17533373;1828290;18285455;1836978;18384749;18394995;18452278;18669648;18991276;19007248;19160488;19192479;19398759;19410544;19410545;19413330;19651622;19664995;19690332;20068231;20080577;20360007;20566683;21406692;21768289;21813648;21900495;23186163;23242214;23481700;24366607;24714562;25505266;25576301;25645385;25755297;25880248;26154972;26375851;26728094;26992070;27270040;27846572;27862975;27920218;28059702;28218747;28228285;28377371;28832583;28834231;28951443;29154753;29242379;29393594;29493099;29508533;29557506;29632711;29786170;30192525;30315122;30379171;30429286;30484775;30620550;30833945;31154438;31530632;31844290;31848261;32157095;32350084;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33402344;33592498;33691108;33717175;33771996;33912179;33936100;33968037;34171305;34561969;35051231;35580925;36010968;36284347;7737117;7743995;7799941;8119945;8428596;8440392;9268380;9670027;9679058", "class_list": "", "function": "Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis., [UniProtKB, PubMed, PubMed]; Results confirm the regulation of MIS18BP1 via SUMO-ubiquitin crosstalk during mitosis., [RefSeq, PubMed]; Three human proteins essential for centromere/kinetochore structure and function, hMis18alpha, hMis18beta, and M18BP1, the complex of which is accumulated specifically at the telophase-G1 centromere, are identified.[Mis18alpha, Mis18beta, M18BP1], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 31, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DSA7;Q86V14;Q96PY4;Q9NUR5;Q9Y4X9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0051301 cell division;GO:0034080 CENP-A containing chromatin assembly;GO:0140462 pericentric heterochromatin organization", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q6P0N0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14494-1", "uniprot_id": [ { "id": "NF2L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14494", "type": "external" } ], "mass": 84704.0, "length": 772, "protein_name": "Endoplasmic reticulum membrane sensor NFE2L1", "gene_name": "NFE2L1", "organism": "Human", "refseq_name": "endoplasmic reticulum membrane sensor NFE2L1 isoform 3", "refseq_ac": [ { "id": "NP_001317191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317191", "type": "external" } ], "gene_names_uniprotkb": "NFE2L1; HBZ17; NRF1; TCF11", "gene_names_refseq": "LCR-F1; NFE2L1; NRF-1; NRF1; TCF11", "protein_names_uniprotkb": "Endoplasmic reticulum membrane sensor NFE2L1; LCR-F1; Locus control region-factor 1; NF-E2-related factor 1; NFE2-related factor 1; Nuclear factor erythroid 2-related factor 1; Nuclear factor, erythroid derived 2, like 1; Protein NRF1, p110 form; Protein NRF1, p120 form; TCF-11; Transcription factor 11", "protein_names_refseq": "NF-E2-related factor 1; NFE2-related factor 1; TCF-11; endoplasmic reticulum membrane sensor NFE2L1 isoform 3; endoplasmic reticulum membrane sensor NFE2L1; locus control region-factor 1; nuclear factor erythroid 2-related factor 1; nuclear factor, erythroid 2 like 1; nuclear factor, erythroid derived 2, like 1; protein NRF1, p120 form; transcription factor 11 (basic leucine zipper type); transcription factor HBZ17; transcription factor LCR-F1", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:4779)", "pathway_count": 1, "publication_count": 105, "publication_id_list": "11237011;15308669;16687406;17693683;20932482;23481700;23623971;24366607;24448410;24714562;24715725;24998528;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26811146;26947393;26992070;27528193;27600516;27676297;27676298;27846572;28228285;28514659;28625484;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;29786170;29983246;30315122;30379171;30410026;30429286;30779550;30784271;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34405274;34509645;34561969;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36241641;36284347;37938771;37996059;38011090;38253038;38656405;38992575;40596516;8001966;8036168;8248256;8932385;9421508", "class_list": "", "function": "CNC-type bZIP family transcription factor that translocates to the nucleus and regulates expression of target genes in response to various stresses (PubMed:8932385, PubMed:9421508). Heterodimerizes with small-Maf proteins (MAFF, MAFG or MAFK) and binds DNA motifs including the antioxidant response elements (AREs), which regulate expression of genes involved in oxidative stress response (PubMed:8932385, PubMed:9421508). Activates or represses expression of target genes, depending on the context (PubMed:8932385, PubMed:9421508). Plays a key role in cholesterol homeostasis by acting as a sensor of cholesterol excess: in low cholesterol conditions, translocates into the nucleus and represses expression of genes involved in defense against cholesterol excess, such as CD36 (By similarity). In excess cholesterol conditions, the endoplasmic reticulum membrane form of the protein directly binds cholesterol via its CRAC motif, preventing cleavage and release of the transcription factor NRF1, thereby allowing expression of genes promoting cholesterol removal (By similarity). Critical for redox balance in response to oxidative stress: acts by binding the AREs motifs on promoters and mediating activation of oxidative stress response genes, such as GCLC, GCLM, GSS, MT1 and MT2 (By similarity). Plays an essential role during fetal liver hematopoiesis: probably has a protective function against oxidative stress and is involved in lipid homeostasis in the liver (By similarity). Involved in proteasome homeostasis: in response to proteasome inhibition, mediates the 'bounce-back' of proteasome subunits by translocating into the nucleus and activating expression of genes encoding proteasome subunits (PubMed:20932482). Also involved in regulating glucose flux (By similarity). Together with CEBPB; represses expression of DSPP during odontoblast differentiation (PubMed:15308669). In response to ascorbic acid induction, activates expression of SP7/Osterix in osteoblasts., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Endoplasmic reticulum membrane sensor that translocates into the nucleus in response to various stresses to act as a transcription factor (PubMed:20932482, PubMed:24448410). Constitutes a precursor of the transcription factor NRF1 (By similarity). Able to detect various cellular stresses, such as cholesterol excess, oxidative stress or proteasome inhibition (PubMed:20932482). In response to stress, it is released from the endoplasmic reticulum membrane following cleavage by the protease DDI2 and translocates into the nucleus to form the transcription factor NRF1 (By similarity). Acts as a key sensor of cholesterol excess: in excess cholesterol conditions, the endoplasmic reticulum membrane form of the protein directly binds cholesterol via its CRAC motif, preventing cleavage and release of the transcription factor NRF1, thereby allowing expression of genes promoting cholesterol removal, such as CD36 (By similarity). Involved in proteasome homeostasis: in response to proteasome inhibition, it is released from the endoplasmic reticulum membrane, translocates to the nucleus and activates expression of genes encoding proteasome subunits (PubMed:20932482)., [UniProtKB, UniProtKB, PubMed, PubMed]; Loss of Nrf1 rather than Nrf2 leads to inflammatory accumulation of lipids and reactive oxygen species in human hepatoma cells, which is alleviated by 2-bromopalmitate., [RefSeq, PubMed]; Nrf1 is not a direct target gene of SREBP1, albeit both are integrated into the rapamycin-responsive regulatory network in human hepatoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; The multifaceted functions of NFE2L1 in metabolism and associated disorders. Review article, [RefSeq, PubMed]; This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for 'nuclear respiratory factor 1' which has an official symbol of NRF1. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor Nrf1 regulates proteotoxic stress-induced autophagy., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "D3DTU3;D3DTU5;Q12877;Q96FN6", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0015485 cholesterol binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005789 endoplasmic reticulum membrane;GO:0000785 chromatin;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008203 cholesterol metabolic process;GO:0006783 heme biosynthetic process;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q14494-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZQX7-1", "uniprot_id": [ { "id": "LIAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZQX7", "type": "external" } ], "mass": 49656.0, "length": 453, "protein_name": "Protein LIAT1", "gene_name": "LIAT1", "organism": "Human", "refseq_name": "protein LIAT1", "refseq_ac": [ { "id": "NP_001013694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013694", "type": "external" } ], "gene_names_uniprotkb": "LIAT1; C17orf97", "gene_names_refseq": "C17orf97; CK20; LIAT1", "protein_names_uniprotkb": "Protein LIAT1; Ligand of ATE1 protein", "protein_names_refseq": "ligand of ATE1 protein; protein LIAT1", "tax_id": 9606, "disease": "", "pathway": " (hsa:400566)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;25369936;31844290;32387766;33091337;33443146;34509645;35051231", "class_list": "", "function": "Participates in nucleolar liquid-liquid phase separation (LLPS) through its N-terminal intrinsically disordered region (IDR). May be involved in ATE1-mediated N-terminal arginylation., [UniProtKB, UniProtKB]; The Ligand of Ate1 is intrinsically disordered and participates in nucleolar phase separation regulated by Jumonji Domain Containing 6., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A5D8T6;Q6NSI2;Q6PFW9", "ec_number_list": [], "go_molecular_function": "GO:0140693 molecular condensate scaffold activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0016598 protein arginylation;GO:0140694 membraneless organelle assembly", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6ZQX7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4ZIN3-1", "uniprot_id": [ { "id": "MBRL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4ZIN3", "type": "external" } ], "mass": 67889.0, "length": 620, "protein_name": "Membralin", "gene_name": "TMEM259", "organism": "Human", "refseq_name": "membralin isoform 1", "refseq_ac": [ { "id": "NP_001028198", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028198", "type": "external" } ], "gene_names_uniprotkb": "TMEM259; C19orf6", "gene_names_refseq": "ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3; TMEM259", "protein_names_uniprotkb": "Membralin; Transmembrane protein 259", "protein_names_refseq": "aspecific BCL2 ARE-binding protein 1; membralin isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:91304)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12638133;15104674;16084606;19159218;22223895;22645359;23186163;23481700;24190977;24715725;25418920;25469497;25576301;25645385;25892735;26154972;26811146;26929215;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30484775;31154438;31217245;31844290;32157095;32265295;32387766;32502341;32897882;32938616;33141586;33298915;33717175;33968037;33981976;34171305;34357683;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;36581221;37074911;37938771", "class_list": "", "function": "Genomic organization and expression (membralin), [RefSeq, PubMed]; May have a role in the ERAD pathway required for clearance of misfolded proteins in the endoplasmic reticulum (ER). Promotes survival of motor neurons, probably by protecting against ER stress., [UniProtKB, UniProtKB]; Study provides first characterization of human membralin and suggests that membralin is a novel tumor-associated marker in ovarian serous carcinomas., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O60392;Q8NF79;Q96H30", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0034976 response to endoplasmic reticulum stress;GO:1904294 positive regulation of ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q4ZIN3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZU5-1", "uniprot_id": [ { "id": "LMCD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZU5", "type": "external" } ], "mass": 40833.0, "length": 365, "protein_name": "LIM and cysteine-rich domains protein 1", "gene_name": "LMCD1", "organism": "Human", "refseq_name": "LIM and cysteine-rich domains protein 1 isoform 4", "refseq_ac": [ { "id": "NP_001265164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265164", "type": "external" } ], "gene_names_uniprotkb": "LMCD1", "gene_names_refseq": "LMCD1", "protein_names_uniprotkb": "LIM and cysteine-rich domains protein 1; Dyxin", "protein_names_refseq": "LIM and cysteine-rich domains protein 1 isoform 4; dyxin", "tax_id": 9606, "disease": "coronary stenosis (Disease Ontology:DOID:4248)", "pathway": " (hsa:29995); (R-HSA-5683826)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10368295;10485905;10496952;10580105;10625644;10662546;11237011;11278984;11563989;12185598;12882447;1325798;1339284;1415726;1568474;15926889;16006481;16199866;1636732;16423266;16630564;17496061;18020944;18692472;1898081;19100526;19144824;1928448;19824815;20026769;20054143;20147294;20338813;20418254;23069847;23481700;23590306;23684610;23922714;24275569;24743970;2515193;25424900;25576301;2587265;25880248;2610270;27862975;29393594;29557506;29786170;2995821;3037072;30429286;30779550;30833945;31154438;31217245;31222486;31844290;31937595;32157095;32160773;32357974;32938616;33141586;33298915;33392160;33592498;3366248;33968037;34019948;34171305;34631;35051231;35318648;35580925;35842772;36103378;37039151;3755136;37938771;3801783;7597036;8314870;8428971;8522976;8527267;8636114;9813380", "class_list": "", "function": "Critical Role of LMCD1 in Promoting Profibrotic Characteristics of Lung Myofibroblasts in Experimental and Scleroderma-Associated Lung Fibrosis., [RefSeq, PubMed]; LIM and Cysteine-Rich Domains 1 Promotes Transforming Growth Factor beta1-Induced Epithelial-Mesenchymal Transition in Human Kidney 2 Cells., [RefSeq, PubMed]; LMCD1 acts as an activator of E2F1 in humans in the induction of CDC6 and IL-33 expression during development of vascular lesions., [RefSeq, PubMed]; LMCD1 facilitates the induction of pluripotency via cell proliferation, metabolism, and epithelial-mesenchymal transition., [RefSeq, PubMed]; This gene encodes a member of the LIM-domain family of zinc finger proteins. The encoded protein contains an N-terminal cysteine-rich domain and two C-terminal LIM domains. The presence of LIM domains suggests involvement in protein-protein interactions. The protein may act as a co-regulator of transcription along with other transcription factors. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]., [RefSeq]; Transcriptional cofactor that restricts GATA6 function by inhibiting DNA-binding, resulting in repression of GATA6 transcriptional activation of downstream target genes. Represses GATA6-mediated trans activation of lung- and cardiac tissue-specific promoters. Inhibits DNA-binding by GATA4 and GATA1 to the cTNC promoter (By similarity). Plays a critical role in the development of cardiac hypertrophy via activation of calcineurin/nuclear factor of activated T-cells signaling pathway., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DG80", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0010611 regulation of cardiac muscle hypertrophy;GO:0070886 positive regulation of calcineurin-NFAT signaling cascade", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q9NZU5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IAA8-1", "uniprot_id": [ { "id": "LTOR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IAA8", "type": "external" } ], "mass": 17745.0, "length": 161, "protein_name": "Ragulator complex protein LAMTOR1", "gene_name": "LAMTOR1", "organism": "Human", "refseq_name": "ragulator complex protein LAMTOR1", "refseq_ac": [ { "id": "NP_060377", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060377", "type": "external" } ], "gene_names_uniprotkb": "LAMTOR1; C11orf59; PDRO; PP7157", "gene_names_refseq": "C11orf59; LAMTOR1; PDRO; Ragulator1; p18; p27RF-Rho", "protein_names_uniprotkb": "Ragulator complex protein LAMTOR1; Late endosomal/lysosomal adaptor and MAPK and MTOR activator 1; Lipid raft adaptor protein p18; Protein associated with DRMs and endosomes; p27Kip1-releasing factor from RhoA; p27RF-Rho", "protein_names_refseq": "RhoA activator C11orf59; late endosomal/lysosomal adaptor and MAPK and MTOR activator 1; lipid raft adaptor protein p18; p27Kip1-releasing factor from RhoA; p27kip1 releasing factor from RhoA; protein associated with DRMs and endosomes; ragulator complex protein LAMTOR1; ragulator complex protein PDRO", "tax_id": 9606, "disease": "", "pathway": " (hsa:55004); (R-HSA-1632852); (R-HSA-165159); (R-HSA-166208); (R-HSA-380972); (R-HSA-5628897); (R-HSA-6798695); (R-HSA-8943724); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013406); (R-HSA-9013407); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013423); (R-HSA-9639288)", "pathway_count": 17, "publication_count": 585, "publication_id_list": 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"class_list": "", "function": "Key component of the Ragulator complex, a multiprotein complex involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed:20381137, PubMed:22980980, PubMed:29158492). Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator plays a dual role for the small GTPases Rag (RagA/RRAGA, RagB/RRAGB, RagC/RRAGC and/or RagD/RRAGD): it (1) acts as a guanine nucleotide exchange factor (GEF), activating the small GTPases Rag and (2) mediates recruitment of Rag GTPases to the lysosome membrane (PubMed:22053050, PubMed:22980980, PubMed:28935770, PubMed:29158492, PubMed:30181260, PubMed:31001086, PubMed:32686708, PubMed:36476874). Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated (PubMed:20381137, PubMed:22980980, PubMed:29158492). LAMTOR1 is directly responsible for anchoring the Ragulator complex to the lysosomal membrane (PubMed:31001086, PubMed:32686708). LAMTOR1 wraps around the other subunits of the Ragulator complex to hold them in place and interacts with the Rag GTPases, thereby playing a key role in the recruitment of the mTORC1 complex to lysosomes (PubMed:28935770, PubMed:29107538, PubMed:29123114, PubMed:29285400). Also involved in the control of embryonic stem cells differentiation via non-canonical RagC/RRAGC and RagD/RRAGD activation: together with FLCN, it is necessary to recruit and activate RagC/RRAGC and RagD/RRAGD at the lysosomes, and to induce exit of embryonic stem cells from pluripotency via non-canonical, mTOR-independent TFE3 inactivation (By similarity). Also required for late endosomes/lysosomes biogenesis it may regulate both the recycling of receptors through endosomes and the MAPK signaling pathway through recruitment of some of its components to late endosomes (PubMed:20381137, PubMed:22980980). May be involved in cholesterol homeostasis regulating LDL uptake and cholesterol release from late endosomes/lysosomes (PubMed:20544018). May also play a role in RHOA activation (PubMed:19654316)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TRAF4-Mediated LAMTOR1 Ubiquitination Promotes mTORC1 Activation and Inhibits the Inflammation-Induced Colorectal Cancer Progression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8WZ09;Q9NWT0", "ec_number_list": [], "go_molecular_function": "GO:0051020 GTPase binding;GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0045121 membrane raft;GO:0070062 extracellular exosome;GO:0005764 lysosome", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0043410 positive regulation of MAPK cascade;GO:0001919 regulation of receptor recycling;GO:0042632 cholesterol homeostasis;GO:0001558 regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 58.8, "record_id": "Q6IAA8-1", "record_type": "protein", "filter_code": "1000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60658-1", "uniprot_id": [ { "id": "PDE8A_HUMAN", "url": "https://www.uniprot.org/uniprot/O60658", "type": "external" } ], "mass": 93304.0, "length": 829, "protein_name": "High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A", "gene_name": "PDE8A", "organism": "Human", "refseq_name": "high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform 3", "refseq_ac": [ { "id": "NP_001230066", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230066", "type": "external" } ], "gene_names_uniprotkb": "PDE8A", "gene_names_refseq": "HsT19550; PDE8A", "protein_names_uniprotkb": "High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A; 3.1.4.53", "protein_names_refseq": "cAMP-specific cyclic nucleotide phosphodiesterase 8A; high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform 3; high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A", "tax_id": 9606, "disease": "", "pathway": " (hsa:5151); (R-HSA-418555)", "pathway_count": 2, "publication_count": 99, "publication_id_list": "11007482;11237011;11371644;11738832;12036966;12058044;12106601;12180353;12681444;12860470;13549488;14671004;1517224;15765929;15769620;15951850;16313925;16687412;16923326;17081983;17168849;18044684;18212344;18577758;18669648;18691976;18983167;19105585;19651622;19876791;19929708;20068231;20381629;21036126;2163110;22673573;23186163;23509299;2417744;24687066;2491850;2553411;2553705;25576301;25880248;26417854;27600516;28228285;2871555;28832583;28904123;29242379;29443750;29602314;30429286;30524438;30833991;31092671;31154438;31217245;3127824;31279028;31399091;31530632;31844290;31848261;31983287;32157095;32161166;32226383;32357974;32497535;32540603;32618402;32715661;32938616;33049737;33091337;33392160;33592498;33912179;33931591;33968037;33981976;34932366;34936285;35051231;36010968;36277728;38325743;38506047;6085243;8340388;8514797;8672451;9263355;9417641;9618252;9651336", "class_list": "", "function": "14-3-3 interaction with phosphodiesterase 8A sustains PKA signaling and downregulates the MAPK pathway., [RefSeq, PubMed]; AKAP12 Upregulation Associates With PDE8A to Accelerate Cardiac Dysfunction., [RefSeq, PubMed]; CAMP-specific phosphodiesterase 8A and 8B isoforms are differentially expressed in human testis and Leydig cell tumor. Publication Status: Online-Only, [RefSeq, PubMed]; Comparison of enzymatic characterization and gene organization of PDE8B and PDE8A., [RefSeq, PubMed]; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes (PubMed:18983167). May be involved in maintaining basal levels of the cyclic nucleotide and/or in the cAMP regulation of germ cell development (PubMed:18983167). Binding to RAF1 reduces RAF1 'Ser-259' inhibitory-phosphorylation and stimulates RAF1-dependent EGF-activated ERK-signaling (PubMed:23509299). Protects against cell death induced by hydrogen peroxide and staurosporine (PubMed:23509299)., [UniProtKB, PubMed, PubMed]; Phosphodiesterase 8A Regulates CFTR Activity in Airway Epithelial Cells., [RefSeq, PubMed]; Phosphodiesterase 8A to discriminate in blood samples depressed patients and suicide attempters from healthy controls based on A-to-I RNA editing modifications. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KXE6;H0YMZ7;Q6P9H3;Q969I1;Q96PC9;Q96PD0;Q96PD1;Q96T71;Q9UMB7;Q9UMC3", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.17", "type": "external" }, { "id": "3.1.4.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.53", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.6.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.25", "type": "external" }, { "id": "3.6.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.14", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030295 protein kinase activator activity;GO:0019900 kinase binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity;GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007165 signal transduction;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0006355 regulation of DNA-templated transcription;GO:0071364 cellular response to epidermal growth factor stimulus;GO:0006198 cAMP catabolic process", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "O60658-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWA4-1", "uniprot_id": [ { "id": "MFN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWA4", "type": "external" } ], "mass": 84160.0, "length": 741, "protein_name": "Mitofusin-1", "gene_name": "MFN1", "organism": "Human", "refseq_name": "mitofusin-1", "refseq_ac": [ { "id": "NP_284941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_284941", "type": "external" } ], "gene_names_uniprotkb": "MFN1", "gene_names_refseq": "MFN1; hfzo1; hfzo2", "protein_names_uniprotkb": "Mitofusin-1; 3.6.5.-; Fzo homolog; Transmembrane GTPase MFN1", "protein_names_refseq": "fzo homolog; mitochondrial transmembrane GTPase FZO-2; mitochondrial transmembrane GTPase Fzo-1; mitofusin-1; putative transmembrane GTPase; transmembrane GTPase MFN1", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 2 (Disease Ontology:DOID:0050539); Charcot-Marie-Tooth disease type 2A2A (Disease Ontology:DOID:0110155); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); Alzheimer's disease (Disease Ontology:DOID:10652); adult respiratory distress syndrome (Disease Ontology:DOID:11394); dental fluorosis (Disease Ontology:DOID:13711); primary pulmonary hypertension (Disease Ontology:DOID:14557); status epilepticus (Disease Ontology:DOID:1824); acute kidney failure (Disease Ontology:DOID:3021); rhinitis (Disease Ontology:DOID:4483); migraine (Disease Ontology:DOID:6364); pulmonary hypertension (Disease Ontology:DOID:6432); chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:55669); (R-HSA-5205685); (R-HSA-9013419); (R-HSA-983231)", "pathway_count": 4, "publication_count": 143, "publication_id_list": "11042108;11062261;11181170;11237011;11242053;11744692;11751411;11751636;11895428;11950885;12032298;12134158;12427746;12475957;12759376;15020713;15247287;15710388;16054028;1630448;16630562;16959974;17027967;17196961;19293402;19432818;20103533;20126261;20530532;20627800;20712405;21115803;21194381;21617041;218813;23481700;23933751;24660806;24714562;24715725;24751536;24784582;25008184;25418920;25469497;25474007;25527497;25576301;25801171;25880248;25892735;26116755;26154972;26365381;26845023;26992070;27035970;27247382;27600516;27920125;27920218;28063628;28114303;28218747;28228285;28446606;28832583;28834231;28904123;29093164;29242379;29394115;29437277;29493099;29508533;29557506;29632711;29694881;29786170;29995846;30111583;30315122;30379171;30410026;30513825;30779550;30833945;31154438;31217245;31479585;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32296703;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;3409321;34171305;34211107;34357683;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36581221;37220142;37254890;37436713;38287189;38325299;8662638;8816476;9065479;9230307;9230308;9326583;9331217;9422515;9927674", "class_list": "", "function": "Evaluation of the role of mitofusin-1 and mitofusin-2 in periodontal disease., [RefSeq, PubMed]; LncRNA gadd7 promotes mitochondrial membrane potential decrease and apoptosis of alveolar type II epithelial cells by positively regulating MFN1 in an in vitro model of hyperoxia-induced acute lung injury. Erratum:[Eur J Histochem. 2024 May 07;68(2). doi: 10.4081/ejh.2024.4058. PMID: 38713031] Publication Status: Online-Only, [RefSeq, PubMed]; MITOFUSIN 1 AS A MARKER FOR EMBRYO QUALITY AND DEVELOPMENT IN RELEVANCE TO ICSI OUTCOME IN INFERTILE FEMALES., [RefSeq, PubMed]; Mfn1 mediates mitochondrial fusion in human cells, [RefSeq, PubMed]; Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:12475957, PubMed:12759376, PubMed:27920125, PubMed:28114303). Membrane clustering requires GTPase activity (PubMed:27920125). It may involve a major rearrangement of the coiled coil domains (PubMed:27920125, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:12475957, PubMed:12759376). Overexpression induces the formation of mitochondrial networks (in vitro) (PubMed:12759376). Has low GTPase activity (PubMed:27920125, PubMed:28114303)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mitofusin 1 overexpression rescues the abnormal mitochondrial dynamics caused by the Mitofusin 2 K357T mutation in vitro., [RefSeq, PubMed]; Results show that Fzo homologs mitofusin 1 and 2 are ubiquitous mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting., [RefSeq, PubMed]; The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0C4DFN1;B2RAR1;D3DNR6;O15323;O60639;Q9BZB5;Q9NWQ2", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane;GO:0098799 outer mitochondrial membrane protein complex", "go_biological_process": "GO:0010918 positive regulation of mitochondrial membrane potential;GO:0008053 mitochondrial fusion;GO:0046039 GTP metabolic process;GO:0051646 mitochondrion localization;GO:0007005 mitochondrion organization", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q8IWA4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17014-1", "uniprot_id": [ { "id": "ZNF12_HUMAN", "url": "https://www.uniprot.org/uniprot/P17014", "type": "external" } ], "mass": 81202.0, "length": 697, "protein_name": "Zinc finger protein 12", "gene_name": "ZNF12", "organism": "Human", "refseq_name": "zinc finger protein 12 isoform b", "refseq_ac": [ { "id": "NP_008887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008887", "type": "external" } ], "gene_names_uniprotkb": "ZNF12; GIOT3; KOX3; ZNF325", "gene_names_refseq": "GIOT-3; HZF11; KOX3; ZNF12; ZNF325", "protein_names_uniprotkb": "Zinc finger protein 12; GIOT-3; Gonadotropin-inducible ovary transcription repressor 3; Zinc finger protein 325; Zinc finger protein KOX3", "protein_names_refseq": "gonadotropin inducible transcription repressor 3; gonadotropin-inducible ovary transcription repressor 3; zinc finger protein 11; zinc finger protein 12 isoform b; zinc finger protein 325; zinc finger protein KOX3", "tax_id": 9606, "disease": "", "pathway": " (hsa:7559); (R-HSA-212436)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;16806083;2163759;2288909;25218447;25576301;25755297;25772364;25880248;25892735;26375851;26992070;28228285;28832583;28834231;28904123;29242379;29557506;29769354;29786170;30315122;30429286;31154438;31217245;31844290;31848261;32157095;32161166;32357974;32488085;32983136;33402679;33592498;33912179;33968037;33981976;34185709;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;8183939;8769649;9637681;9653119", "class_list": "", "function": "A zinc finger protein with a RBaK-like RB-binding domain, inhibits AP-1- and SRE-mediated transcriptional activity, [RefSeq, PubMed]; Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability. Erratum:[Nat Commun. 2021 Feb 8;12(1):995. doi: 10.1038/s41467-021-21276-3. PMID: 33558525] Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with eight C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in developmental control of gene expression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional repressor which suppresses activation protein 1 (AP-1)- and serum response element (SRE)-mediated transcriptional activity., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MYC4;A8WFQ8;B2RNQ7;B4DF45;Q6N016;Q8NHZ0;Q9H9P0;Q9ULZ6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "P17014-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96SK3-1", "uniprot_id": [ { "id": "ZN607_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96SK3", "type": "external" } ], "mass": 80507.0, "length": 696, "protein_name": "Zinc finger protein 607", "gene_name": "ZNF607", "organism": "Human", "refseq_name": "zinc finger protein 607 isoform 2", "refseq_ac": [ { "id": "NP_001166148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166148", "type": "external" } ], "gene_names_uniprotkb": "ZNF607", "gene_names_refseq": "ZNF607", "protein_names_uniprotkb": "Zinc finger protein 607", "protein_names_refseq": "zinc finger protein 607 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84775); (R-HSA-212436)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;19851296;20198315;2163759;28832583;29557506;29632711;30379171;30429286;30779550;31154438;31222486;31844290;31848261;32157095;32488085;32938616;33537174;33592498;33981976;35580925;36010968;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "F5H141;Q6ZMN2;Q6ZMN4;Q96C40", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q96SK3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75781-1", "uniprot_id": [ { "id": "PALM_HUMAN", "url": "https://www.uniprot.org/uniprot/O75781", "type": "external" } ], "mass": 42076.0, "length": 387, "protein_name": "Paralemmin-1", "gene_name": "PALM", "organism": "Human", "refseq_name": "paralemmin-1 isoform 2", "refseq_ac": [ { "id": "NP_001035224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035224", "type": "external" } ], "gene_names_uniprotkb": "PALM; KIAA0270", "gene_names_refseq": "PALM1; PALM", "protein_names_uniprotkb": "Paralemmin-1; Paralemmin", "protein_names_refseq": "paralemmin-1 isoform 2; paralemmin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5064)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;14978216;15345747;16386234;17081983;18669648;19413330;19651622;19664994;20068231;22223895;23186163;30379171;31848261;33298915;33592498;35051231;37938771;9615234;9813098", "class_list": "", "function": "Involved in plasma membrane dynamics and cell process formation. Isoform 1 and isoform 2 are necessary for axonal and dendritic filopodia induction, for dendritic spine maturation and synapse formation in a palmitoylation-dependent manner., [UniProtKB, PubMed]; This gene encodes a member of the paralemmin protein family. The product of this gene is a prenylated and palmitoylated phosphoprotein that associates with the cytoplasmic face of plasma membranes and is implicated in plasma membrane dynamics in neurons and other cell types. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O43359;O95673;Q92559;Q9UPJ4;Q9UQS2;Q9UQS3", "ec_number_list": [], "go_molecular_function": "GO:0031750 D3 dopamine receptor binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0016323 basolateral plasma membrane;GO:0030424 axon", "go_biological_process": "GO:0060160 negative regulation of dopamine receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0072659 protein localization to plasma membrane;GO:0008360 regulation of cell shape;GO:0051491 positive regulation of filopodium assembly", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "O75781-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MG8-1", "uniprot_id": [ { "id": "PCMD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MG8", "type": "external" } ], "mass": 40675.0, "length": 357, "protein_name": "Protein-L-isoaspartate O-methyltransferase domain-containing protein 1", "gene_name": "PCMTD1", "organism": "Human", "refseq_name": "protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001273711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273711", "type": "external" } ], "gene_names_uniprotkb": "PCMTD1", "gene_names_refseq": "PCMTD1", "protein_names_uniprotkb": "Protein-L-isoaspartate O-methyltransferase domain-containing protein 1", "protein_names_refseq": "protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 2; protein-L-isoaspartate O-methyltransferase domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:115294)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;23505305;23847314;24474268;25576301;25807930;27455018;27846572;27920218;28228285;28832583;28904123;29242379;29310965;29393594;29493099;29632046;30315122;30377206;30429286;31530632;31844290;31848261;32157095;32350084;32387766;32488085;32938616;32983136;33912179;35051231;35318648;35486881;35580925", "class_list": "", "function": "Human Protein-l-isoaspartate O-Methyltransferase Domain-Containing Protein 1 (PCMTD1) Associates with Cullin-RING Ligase Proteins., [RefSeq, PubMed]; In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST18) was associated significantly with primary angle closure. Publication Status: Online-Only, [RefSeq, PubMed]; In this study, 2 of 8 (primary angle-closure glaucoma) PACG-associated loci were associated significantly with PACS status, the earliest stage in the angle-closure glaucoma disease course. The association of these PACG loci with PACS status suggests that these loci may confer susceptibility to a narrow angle configuration., [RefSeq, PubMed]; No significant association of PLEKHA7 rs11024102, COL11A1 rs3753841 and PCMTD1-ST18 rs1015213 with primary angle closure glaucoma was found among ethnic Han Chinese from Sichuan, [RefSeq, PubMed]; Presence of at least one A allele (AG or AA genotype) for rs1015213 was associated with a shallower anterior chamber depth (-0.07 mm, 95% CI -0.01 to -0.14 mm, p=0.028) after adjusting for age and sex (both p3)-sialylated GD1a and GM3 and alpha-(2->8)-sialylated GD3 (PubMed:15213228, PubMed:15847605, PubMed:21521691). Hydrolyzes poly-alpha-(2->8)-sialylated neural cell adhesion molecule NCAM1 likely at growth cones, suppressing neurite outgrowth in hippocampal neurons (By similarity). May desialylate sialyl Lewis A and X antigens at the cell surface, down-regulating these glycan epitopes recognized by SELE/E selectin in the initiation of cell adhesion and extravasation (PubMed:21521691). Has sialidase activity toward mucin, fetuin and sialyllactose (PubMed:15847605)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Neu4 is a novel human lysosomal lumen sialidase, [RefSeq, PubMed]; Neuraminidase 4 (NEU4): new biological and physiological player. Review article, [RefSeq, PubMed]; Synergistic activation of the NEU4 promoter by p73 and AP2 in colon cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; The NEU4 gene, identified by searching sequence databases for entries showing homologies to the human cytosolic sialidase NEU2, maps in 2q37 and encodes a 484-residue protein., [RefSeq, PubMed]; The NEU4 long form localizes in mitochondria, while the short form is also associated with the endoplasmic reticulum., [RefSeq, PubMed]; The most potent compound tested targeted the human Neu4 isoenzyme, and was able to substantially reduce the rate of cell migration. We found that the lateral mobility of integrins was reduced by treatment of cells with Neu3, suggesting that Neu3 enzyme activity resulted in changes to integrin-co-receptor or integrin-cytoskeleton interactions, [RefSeq, PubMed]; The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 700, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K056;J3KNJ5;Q96D64", "ec_number_list": [ { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" } ], "go_molecular_function": "GO:0004308 exo-alpha-sialidase activity", "go_cellular_component": "GO:0019866 organelle inner membrane;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane", "go_biological_process": "GO:0006689 ganglioside catabolic process;GO:0010977 negative regulation of neuron projection development;GO:0009313 oligosaccharide catabolic process;GO:0006516 glycoprotein catabolic process;GO:0016042 lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q8WWR8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UY27-1", "uniprot_id": [ { "id": "PATE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UY27", "type": "external" } ], "mass": 13015.0, "length": 113, "protein_name": "Prostate and testis expressed protein 2", "gene_name": "PATE2", "organism": "Human", "refseq_name": "prostate and testis expressed protein 2 precursor", "refseq_ac": [ { "id": "NP_997720", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997720", "type": "external" } ], "gene_names_uniprotkb": "PATE2; C11orf38; PRO10144", "gene_names_refseq": "C11orf38; PATE-M; PATE2; UNQ3112", "protein_names_uniprotkb": "Prostate and testis expressed protein 2; PATE-M; PATE-like protein M", "protein_names_refseq": "LVLF3112; PATE-like protein M; prostate and testis expressed protein 2 precursor; prostate and testis expressed protein 2; prostate and testis expression M", "tax_id": 9606, "disease": "", "pathway": " (hsa:399967)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "12975309;18387948;22402205", "class_list": "", "function": "Analysis of PATE, expressed primarily in prostate and less in testis, and additional PATE-like genes PATE-M, PATE-DJ, and PATE-B, [RefSeq, PubMed]; PATE proteins are involved in sperm-oolemma fusion and penetration but not sperm-zona binding., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RNZ2;B7ZMG4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q6UY27-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49675-1", "uniprot_id": [ { "id": "STAR_HUMAN", "url": "https://www.uniprot.org/uniprot/P49675", "type": "external" } ], "mass": 31914.0, "length": 285, "protein_name": "Steroidogenic acute regulatory protein, mitochondrial", "gene_name": "STAR", "organism": "Human", "refseq_name": "steroidogenic acute regulatory protein, mitochondrial", "refseq_ac": [ { "id": "NP_000340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000340", "type": "external" } ], "gene_names_uniprotkb": "STAR; STARD1", "gene_names_refseq": "STARD1; STAR", "protein_names_uniprotkb": "Steroidogenic acute regulatory protein, mitochondrial; START domain-containing protein 1; StARD1; StAR", "protein_names_refseq": "START domain containing 1; START domain-containing protein 1; StAR related lipid transfer (START) domain containing 1; cholesterol trafficker; mitochondrial steroid acute regulatory protein; steroidogenic acute regulatory protein, mitochondrial; steroidogenic acute regulator; testis secretory sperm-binding protein Li 241mP", "tax_id": 9606, "disease": "congenital adrenal hyperplasia (Disease Ontology:DOID:0050811); polycystic ovary syndrome (Disease Ontology:DOID:11612); hypothyroidism (Disease Ontology:DOID:1459); hypogonadism (Disease Ontology:DOID:1924); nephrosis (Disease Ontology:DOID:2527); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:6770); (R-HSA-196108); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 65, "publication_id_list": "10548884;10566637;11237011;11923310;12198491;12530629;12775716;14623864;15522782;15870080;16115876;17101804;17297443;17579211;18197253;19841671;21738568;22262461;22710082;23201127;23931759;24315374;24520911;25542846;25818881;26504172;26923599;27496948;27642048;28377575;28396416;29242379;29301859;2981667;29932645;3001071;30120231;3024157;31327635;31695197;32633081;33257573;34704252;34943861;35051231;35870450;36629048;38109991;38368602;38829257;38913505;39201419;7547998;7548191;7623837;7761400;7892608;8307574;8645003;8948562;9097960;9405483;9452116;9578606;9915832", "class_list": "", "function": "Acetylation of Steroidogenic Acute Regulatory Protein Sensitizes 17beta-Estradiol Regulation in Hormone-Sensitive Breast Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Bone morphogenetic protein-9 downregulates StAR expression by inducing snail expression via SMAD1/5/8 signaling in human granulosa-lutein cells., [RefSeq, PubMed]; Clinical spectrum of human STAR variants and their genotype-phenotype correlation. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Differential regulation of STARD1, STARD4 and STARD6 in the human ovary. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone. Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where it is cleaved to pregnenolone., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation., [RefSeq, PubMed]; The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q16396", "ec_number_list": [], "go_molecular_function": "GO:0015485 cholesterol binding;GO:0120020 cholesterol transfer activity;GO:0140104 molecular carrier activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005758 mitochondrial intermembrane space;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0070859 positive regulation of bile acid biosynthetic process;GO:0008203 cholesterol metabolic process;GO:0032367 intracellular cholesterol transport;GO:0006700 C21-steroid hormone biosynthetic process;GO:0006694 steroid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "P49675-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXH9-1", "uniprot_id": [ { "id": "TRM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXH9", "type": "external" } ], "mass": 72234.0, "length": 659, "protein_name": "tRNA (guanine(26)-N(2))-dimethyltransferase", "gene_name": "TRMT1", "organism": "Human", "refseq_name": "tRNA (guanine(26)-N(2))-dimethyltransferase isoform 1", "refseq_ac": [ { "id": "NP_001129507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129507", "type": "external" } ], "gene_names_uniprotkb": "TRMT1", "gene_names_refseq": "MRT68; TRM1; TRMT1; hTRM1", "protein_names_uniprotkb": "tRNA (guanine(26)-N(2))-dimethyltransferase; 2.1.1.216; hTRM1; tRNA 2,2-dimethylguanosine-26 methyltransferase; tRNA methyltransferase 1; tRNA(guanine-26,N(2)-N(2)) methyltransferase; tRNA(m(2,2)G26)dimethyltransferase", "protein_names_refseq": "N(2),N(2)-dimethylguanosine tRNA methyltransferase; TRM1 tRNA methyltransferase 1 homolog; tRNA (guanine(26)-N(2))-dimethyltransferase isoform 1; tRNA (guanine(26)-N(2))-dimethyltransferase; tRNA 2,2-dimethylguanosine-26 methyltransferase; tRNA methyltransferase 1 homolog; tRNA(guanine-26,N(2)-N(2)) methyltransferase; tRNA(m(2,2)G26)dimethyltransferase", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 68 (Disease Ontology:DOID:0081229)", "pathway": " (hsa:55621); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 119, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;16964243;17071714;18567810;18669648;18767875;19017811;19413330;19414587;19664995;20068231;20123966;20308323;20354154;20584901;21059936;21131277;21937992;22344696;22591353;22995836;23042678;23048041;23186163;23301498;23381944;23481700;23604283;24126054;24204302;24714562;24715725;24901367;25261850;25404562;25576301;25645385;25880248;25916855;26154972;26160102;26308914;26310293;26728094;26992070;27055666;27600516;27846572;27862975;27920218;28228285;28510447;28784718;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29786170;30289604;30315122;30379171;30484775;30524438;30833945;31481669;31530632;31844290;31848261;31898845;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33499731;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34509645;34932366;35051231;35580925;36010968;36215666;36241641;36610787;37073102;37204604;38665916;38814682;39773525;39786990;9430663;9851972", "class_list": "", "function": "A missense variant was found in GRM1 gene, while in the second family, a frameshift alteration was identified in TRMT1, both of which were found to co-segregate with the intellectual disability. Publication Status: Online-Only, [RefSeq, PubMed]; An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity., [RefSeq, PubMed]; Dimethylates a single guanine residue at position 26 of most nuclear- and mitochondrial-encoded tRNAs using S-adenosyl-L-methionine as donor of the methyl groups (PubMed:10982862, PubMed:28784718, PubMed:37204604, PubMed:39786990). tRNA guanine(26)-dimethylation is required for redox homeostasis and ensure proper cellular proliferation and oxidative stress survival (PubMed:28784718)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Human TRMT1 catalyzes m[2]G or m[2]2G formation on tRNAs in a substrate-dependent manner., [RefSeq, PubMed]; Mutations in the methyltransferase TRMT1 lead to a microcephalic phenotype and isolated inferior vermian hypoplasia, [RefSeq, PubMed]; Proteolytic cleavage and inactivation of the TRMT1 tRNA modification enzyme by SARS-CoV-2 main protease. Publication Status: Online-Only, [RefSeq, PubMed]; Results uncover a biological role for TRMT1-catalyzed tRNA modification in redox metabolism and show that individuals with TRMT1-associated ID are likely to have major perturbations in cellular homeostasis due to the lack of m2,2G modifications. Publication Status: Online-Only, [RefSeq, PubMed]; SARS-CoV-2 main protease Nsp5 cleaves and inactivates human tRNA methyltransferase TRMT1., [RefSeq, PubMed]; This gene encodes a tRNA-modifying enzyme that acts as a dimethyltransferase, modifying a single guanine residue at position 26 of the tRNA. The encoded enzyme has both mono- and dimethylase activity when exogenously expressed, and uses S-adenosyl methionine as a methyl donor. The C-terminal region of the encoded protein has both a zinc finger motif, and an arginine/proline-rich region. Mutations in this gene have been implicated in autosomal recessive intellectual disorder (ARID). Alternative splicing results in multiple transcript variants encoding different isoforms. There is a pseudogene of this gene on the X chromosome. [provided by RefSeq, May 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O76103;Q548Y5;Q8WVA6", "ec_number_list": [ { "id": "2.1.1.216", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.216", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0000049 tRNA binding;GO:0160104 tRNA (guanine(26)-N2)-dimethyltransferase activity;GO:0016423 tRNA (guanine) methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0002940 tRNA N2-guanine methylation;GO:0008033 tRNA processing;GO:0006400 tRNA modification;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q9NXH9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96B02-1", "uniprot_id": [ { "id": "UBE2W_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96B02", "type": "external" } ], "mass": 17331.0, "length": 151, "protein_name": "Ubiquitin-conjugating enzyme E2 W", "gene_name": "UBE2W", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 W isoform 1", "refseq_ac": [ { "id": "NP_001001481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001481", "type": "external" } ], "gene_names_uniprotkb": "UBE2W; UBC16", "gene_names_refseq": "UBC-16; UBC16; UBE2W", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 W; 2.3.2.23; 2.3.2.25; E2 ubiquitin-conjugating enzyme W; N-terminal E2 ubiquitin-conjugating enzyme; N-terminus-conjugating E2; UBC-16; Ubiquitin carrier protein W; Ubiquitin-conjugating enzyme 16; Ubiquitin-protein ligase W", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme W; N-terminal E2 ubiquitin-conjugating enzyme; N-terminus-conjugating E2; ubiquitin carrier protein W; ubiquitin conjugating enzyme E2 W (putative); ubiquitin conjugating enzyme E2W (putative); ubiquitin-conjugating enzyme 16; ubiquitin-conjugating enzyme 2W; ubiquitin-conjugating enzyme E2 W isoform 1; ubiquitin-protein ligase W", "tax_id": 9606, "disease": "", "pathway": " (hsa:55284); (R-HSA-8866652); (R-HSA-983168)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16142244;16368532;16595681;16849449;16954532;17580310;17597759;18353650;18662542;19028597;19111657;19352404;19452197;19489725;19851334;19874575;19940261;20061386;21229326;22496338;2261476;23481700;23560854;23696636;25436519;25576301;26235645;26992070;28832583;29393594;29557506;30410026;31217245;31844290;32350084;32387766;32938616;32983136;33298915;33392160;33912179;33931024;34171305;34357683;34509645;35051231;35580925;36593310;37938771;6277905;6305978;7851534;8010951;9380723;9521656;9668046", "class_list": "", "function": "Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:20061386, PubMed:21229326). Specifically monoubiquitinates the N-terminus of various substrates, including ATXN3, MAPT/TAU, POLR2H/RPB8 and STUB1/CHIP, by recognizing backbone atoms of disordered N-termini (PubMed:23560854, PubMed:23696636, PubMed:25436519). Involved in degradation of misfolded chaperone substrates by mediating monoubiquitination of STUB1/CHIP, leading to recruitment of ATXN3 to monoubiquitinated STUB1/CHIP, and restriction of the length of ubiquitin chain attached to STUB1/CHIP substrates by ATXN3. After UV irradiation, but not after mitomycin-C (MMC) treatment, acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway (PubMed:19111657, PubMed:21229326). In vitro catalyzes 'Lys-11'-linked polyubiquitination. UBE2W-catalyzed ubiquitination also occurs in the presence of inactive RING/U-box type E3s, i.e. lacking the active site cysteine residues to form thioester bonds with ubiquitin, or even in the absence of E3, albeit at a slower rate (PubMed:25436519)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Genetic code expansion reveals aminoacylated lysine ubiquitination mediated by UBE2W., [RefSeq, PubMed]; Human Ubiquitin-conjugating enzyme (E2) is homologous to the Arabidopsis thaliana UBC-16 gene product and contains 2 nuclear localization signals Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic value of ubiquitin E2 UBE2W and its correlation with tumor-infiltrating immune cells in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a nuclear-localized ubiquitin-conjugating enzyme (E2) that, along with ubiquitin-activating (E1) and ligating (E3) enzymes, coordinates the addition of a ubiquitin moiety to existing proteins. The encoded protein promotes the ubiquitination of Fanconi anemia complementation group proteins and may be important in the repair of DNA damage. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DIV1;Q1XBE0;Q9H823;Q9HAG6;Q9NV07", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "6.2.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.64", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0031625 ubiquitin protein ligase binding;GO:0004842 ubiquitin-protein transferase activity;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0006281 DNA repair;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0070979 protein K11-linked ubiquitination;GO:0000209 protein polyubiquitination;GO:0006515 protein quality control for misfolded or incompletely synthesized proteins", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q96B02-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15116-1", "uniprot_id": [ { "id": "PDCD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15116", "type": "external" } ], "mass": 31647.0, "length": 288, "protein_name": "Programmed cell death protein 1", "gene_name": "PDCD1", "organism": "Human", "refseq_name": "programmed cell death protein 1 precursor", "refseq_ac": [ { "id": "NP_005009", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005009", "type": "external" } ], "gene_names_uniprotkb": "PDCD1; PD1", "gene_names_refseq": "ADMIO4; AIMTBS; CD279; PD-1; PD1; PDCD1; SLEB2; hPD-1; hPD-l; hSLE1", "protein_names_uniprotkb": "Programmed cell death protein 1; Protein PD-1; hPD-1", "protein_names_refseq": "programmed cell death 1 protein; programmed cell death protein 1 precursor; programmed cell death protein 1; protein PD-1; systemic lupus erythematosus susceptibility 2", "tax_id": 9606, "disease": "infantile onset multisystem autoimmune disease 4 (Disease Ontology:DOID:0061163); Cryptococcal meningitis (Disease Ontology:DOID:0080159); lupus nephritis (Disease Ontology:DOID:0080162); stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591); anogenital venereal wart (Disease Ontology:DOID:11168); hepatitis A (Disease Ontology:DOID:12549); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); dilated cardiomyopathy (Disease Ontology:DOID:12930); toxic shock syndrome (Disease Ontology:DOID:14115); hepatitis C (Disease Ontology:DOID:1883); hepatitis B (Disease Ontology:DOID:2043); autoimmune hepatitis (Disease Ontology:DOID:2048); hepatitis (Disease Ontology:DOID:2237); pulmonary tuberculosis (Disease Ontology:DOID:2957); lung adenocarcinoma (Disease Ontology:DOID:3910); tuberculosis (Disease Ontology:DOID:399); renal cell carcinoma (Disease Ontology:DOID:4450); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); hepatocellular carcinoma (Disease Ontology:DOID:684); periodontitis (Disease Ontology:DOID:824); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:5133); (R-HSA-389948); (R-HSA-9679191); (R-HSA-9931295)", "pathway_count": 4, "publication_count": 67, "publication_id_list": "10087012;11237011;12402038;12893276;12947224;15240681;15358536;16115318;16522641;17662961;18173375;18759926;20223979;21154117;21276005;22401777;22552008;22658127;22814904;23302904;23417675;23641311;24190977;24272870;24584101;25034862;25399552;25502872;25801024;26002965;26602187;27325296;27572267;27618663;27734966;28165004;28265006;28425720;28951311;29765039;29863979;29945920;30118680;30201761;30487606;30522017;31048504;31305264;31313098;31754127;32184441;32350084;33073996;34183838;34433824;35051231;35309324;36719382;37208329;37316505;39101792;39105820;39325190;39438489;39456030;7851902;9332365", "class_list": "", "function": "A splicing isoform of PD-1 promotes tumor progression as a potential immune checkpoint. Publication Status: Online-Only, [RefSeq, PubMed]; Comprehensive Glycomic and Glycoproteomic Analyses of Human Programmed Cell Death Protein 1 Extracellular Domain., [RefSeq, PubMed]; Evaluation of PD-1 and interleukin-10-receptor expression by T lymphocytes in malignant and benign pleural effusions. Publication Status: Online-Only, [RefSeq, PubMed]; High PD-1 and CTLA-4 expression correlates with host immune suppression in patients and a mouse model infected with Echinococcus multilocularis. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibitory receptor on antigen activated T-cells that plays a critical role in induction and maintenance of immune tolerance to self (PubMed:21276005, PubMed:31754127, PubMed:32184441, PubMed:37208329). Delivers inhibitory signals upon binding to ligands CD274/PDCD1L1 and CD273/PDCD1LG2 (PubMed:21276005, PubMed:26602187). Following T-cell receptor (TCR) engagement, PDCD1 associates with TCR-CD3 in the immunological synapse and directly inhibits T-cell activation (PubMed:32184441). Suppresses T-cell activation through the recruitment of PTPN11/SHP-2: following ligand-binding, PDCD1 is phosphorylated within the ITSM motif, leading to the recruitment of the protein tyrosine phosphatase PTPN11/SHP-2 that mediates dephosphorylation of key TCR proximal signaling molecules, such as ZAP70, PRKCQ/PKCtheta and CD247/CD3zeta (PubMed:32184441)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Programmed cell death protein 1 (PDCD1) is an immune-inhibitory receptor expressed in activated T cells; it is involved in the regulation of T-cell functions, including those of effector CD8+ T cells. In addition, this protein can also promote the differentiation of CD4+ T cells into T regulatory cells. PDCD1 is expressed in many types of tumors including melanomas, and has demonstrated to play a role in anti-tumor immunity. Moreover, this protein has been shown to be involved in safeguarding against autoimmunity, however, it can also contribute to the inhibition of effective anti-tumor and anti-microbial immunity. [provided by RefSeq, Aug 2020]., [RefSeq]; TIGIT expression in renal cell carcinoma infiltrating T cells is variable and inversely correlated with PD-1 and LAG3. Publication Status: Online-Only, [RefSeq, PubMed]; The PDCD1-mediated inhibitory pathway is exploited by tumors to attenuate anti-tumor immunity and escape destruction by the immune system, thereby facilitating tumor survival (PubMed:28951311). The interaction with CD274/PDCD1L1 inhibits cytotoxic T lymphocytes (CTLs) effector function (PubMed:28951311). The blockage of the PDCD1-mediated pathway results in the reversal of the exhausted T-cell phenotype and the normalization of the anti-tumor response, providing a rationale for cancer immunotherapy (PubMed:22658127, PubMed:25034862, PubMed:25399552)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 2, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 24, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O00517;Q8IX89", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006915 apoptotic process;GO:0050728 negative regulation of inflammatory response;GO:0050776 regulation of immune response;GO:0002250 adaptive immune response;GO:0006959 humoral immune response", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q15116-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000110000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCC0-1", "uniprot_id": [ { "id": "MCCB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCC0", "type": "external" } ], "mass": 61333.0, "length": 563, "protein_name": "Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial", "gene_name": "MCCC2", "organism": "Human", "refseq_name": "methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_071415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071415", "type": "external" } ], "gene_names_uniprotkb": "MCCC2; MCCB", "gene_names_refseq": "MCCB; MCCC2; MCCCbeta", "protein_names_uniprotkb": "Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial; 3-methylcrotonyl-CoA carboxylase 2; 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta; 6.4.1.4; MCCase subunit beta", "protein_names_refseq": "3-methylcrotonyl-CoA carboxylase 2; 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta; MCCase subunit beta; biotin carboxylase; methylcrotonoyl-CoA carboxylase 2 (beta); methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1 precursor; methylcrotonoyl-CoA carboxylase beta chain, mitochondrial; methylcrotonoyl-Coenzyme A carboxylase 2 (beta); non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase; testicular secretory protein Li 29", "tax_id": 9606, "disease": "3-methylcrotonyl-CoA carboxylase 2 deficiency (Disease Ontology:DOID:0080580); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:64087); (R-HSA-196780); (R-HSA-3371599); (R-HSA-70895); (R-HSA-9909438)", "pathway_count": 5, "publication_count": 128, "publication_id_list": "10064314;10190325;10329687;10334869;10485305;10677481;10832746;10947204;11013134;11170888;11181649;11185745;11237011;11264579;11406611;11735028;11738050;12124727;12269802;12359132;12434311;12646417;12696021;13416257;14680978;14752098;14766011;15166214;1527093;15342248;15359379;15576032;16010683;16023992;16134170;16141215;16150625;17360195;17371050;17968484;18297087;20068231;20153287;21071250;21183659;22123817;22150417;22264772;22291014;22642865;22956686;23481700;23485643;24449431;25382614;25418920;25576301;25645385;26154972;26251176;26811146;26992070;27601257;27920218;28218747;28228285;28510447;28649982;2868710;28832583;28834231;28855257;28904123;29242379;29557506;29632046;29789417;30315122;30397120;30410026;30429286;3082934;31154438;31217245;31435015;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33537174;33592498;33691108;33912179;33968037;34087483;34211107;34229054;34357683;34509645;34932366;35051231;35580925;3597357;36010968;36241641;37828426;38783226;40914422;6883721;6928646;7356336;7509806;7732023;7842009;8817339;8824301;8930409;9165094;9187484;9214289;9630604;9889013", "class_list": "", "function": "Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; ECHDC2 inhibits the proliferation of gastric cancer cells by binding with NEDD4 to degrade MCCC2 and reduce aerobic glycolysis. Publication Status: Online-Only, [RefSeq, PubMed]; MCCC2 is a novel mediator between mitochondria and telomere and functions as an oncogene in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NIY9;Q96C27;Q9Y4L7", "ec_number_list": [ { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "6.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.1", "type": "external" }, { "id": "6.3.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.-", "type": "external" }, { "id": "6.3.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.10", "type": "external" }, { "id": "6.3.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.11", "type": "external" }, { "id": "6.3.4.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.15", "type": "external" }, { "id": "6.3.4.9", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.9", "type": "external" }, { "id": "6.4.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.4", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004485 methylcrotonoyl-CoA carboxylase activity;GO:0016874 ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:1905202 methylcrotonoyl-CoA carboxylase complex", "go_biological_process": "GO:0009083 branched-chain amino acid catabolic process;GO:0015936 coenzyme A metabolic process;GO:0006552 L-leucine catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q9HCC0-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0VGL1-1", "uniprot_id": [ { "id": "LTOR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0VGL1", "type": "external" } ], "mass": 10741.0, "length": 99, "protein_name": "Ragulator complex protein LAMTOR4", "gene_name": "LAMTOR4", "organism": "Human", "refseq_name": "ragulator complex protein LAMTOR4 isoform 1", "refseq_ac": [ { "id": "NP_001008396", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008396", "type": "external" } ], "gene_names_uniprotkb": "LAMTOR4; C7orf59", "gene_names_refseq": "C7orf59; LAMTOR4", "protein_names_uniprotkb": "Ragulator complex protein LAMTOR4; Late endosomal/lysosomal adaptor and MAPK and MTOR activator 4", "protein_names_refseq": "UPF0539 protein C7orf59; late endosomal/lysosomal adaptor and MAPK and MTOR activator 4; ragulator complex protein LAMTOR4 isoform 1; ragulator complex protein LAMTOR4", "tax_id": 9606, "disease": "", "pathway": " (hsa:389541); (R-HSA-1632852); (R-HSA-165159); (R-HSA-166208); (R-HSA-380972); (R-HSA-5628897); (R-HSA-8943724); (R-HSA-9639288)", "pathway_count": 8, "publication_count": 222, "publication_id_list": "10329961;10654941;10716435;10745013;10980602;11018120;11029283;11034341;11096062;11237011;11340051;11378386;11486029;11545734;11781575;11825910;11959846;12150926;12151408;12161445;12203114;12438239;12453409;12524439;12714747;12742462;12805220;12869586;12906785;13298683;13538944;14511394;14517248;14614828;14651849;14985505;15105503;15187094;15223;15314020;15579580;15589136;15755954;15809305;15854902;15878852;16098514;16140933;16413492;16418168;16636147;16676006;16702404;16728594;16760263;16839880;16943194;16963840;1715244;17277771;17298220;17386266;17470430;17486094;17510057;17517883;17540029;17618624;17873065;17974977;18172008;18198340;18321988;18344994;18372248;18391013;18439900;18487508;18497260;18604198;18692468;18991276;19113821;19211835;19322194;19439913;19440552;19487573;19590496;19822145;19855179;19884659;19898463;20059746;20068231;20080666;20182617;20233713;20351271;20378837;20381137;20516213;20713597;20921139;21177865;21205641;21258367;21289308;21383122;21460621;21602892;21750704;21819378;21958598;22053050;22128185;22170151;22363791;22575674;22682742;22980980;23202584;23287862;23685627;23723238;23727157;23775793;23884233;24066844;24081491;24095279;24366607;24366874;24383451;24718924;24747438;24954904;25259925;25263562;25418920;25457612;25484072;25502872;25561175;25567906;25568151;25576301;25579166;25728608;25819761;25961827;25963655;26154972;26449471;26586190;26652033;26910647;26929215;26972053;26992070;27308486;27487210;27648300;27846572;28066558;28199306;28199315;28467828;28904123;28935770;29053970;29056322;29107538;29123071;29123114;29158492;29236692;29242379;29285400;29393594;29437277;29557506;30061680;30181260;30651352;31217245;31314152;31601708;31672913;31704029;31844290;32157095;32488085;32502341;32868926;32938616;32983136;33592498;33936100;33968037;34357683;34433824;35058442;35338845;35561310;35580925;36103527;36215666;36241641;36336962;36697823;39125671;5666113;7499430;7628435;7979252;7989588;8119488;8549768;8779952;9721431;9926927", "class_list": "", "function": "As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator plays a dual role for the small GTPases Rag (RagA/RRAGA, RagB/RRAGB, RagC/RRAGC and/or RagD/RRAGD): it (1) acts as a guanine nucleotide exchange factor (GEF), activating the small GTPases Rag and (2) mediates recruitment of Rag GTPases to the lysosome membrane. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Elevated LAMTOR4 Expression Is Associated with Lethal Prostate Cancer and Its Knockdown Decreases Cell Proliferation, Invasion, and Migration In Vitro. Publication Status: Online-Only, [RefSeq, PubMed]; Lysosomal TMEM9-LAMTOR4-controlled mTOR signaling integrity is required for mammary tumorigenesis., [RefSeq, PubMed]; Study identified HBXIP and C7orf59 as two additional Ragulator components that are required for mTORC1 activation by amino acids., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0071986 Ragulator complex;GO:1990877 FNIP-folliculin RagC/D GAP", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0032008 positive regulation of TOR signaling;GO:0038202 TORC1 signaling;GO:0071230 cellular response to amino acid stimulus;GO:0061462 protein localization to lysosome", "synthesized_glycan_count": 0, "hit_score": 22.3, "record_id": "Q0VGL1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NTJ4-1", "uniprot_id": [ { "id": "MA2C1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NTJ4", "type": "external" } ], "mass": 115835.0, "length": 1040, "protein_name": "Alpha-mannosidase 2C1", "gene_name": "MAN2C1", "organism": "Human", "refseq_name": "alpha-mannosidase 2C1 isoform 2", "refseq_ac": [ { "id": "NP_001243423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243423", "type": "external" } ], "gene_names_uniprotkb": "MAN2C1; MANA1; MANA", "gene_names_refseq": "CDDG2; MAN2C1; MAN6A8; MANA1; MANA", "protein_names_uniprotkb": "Alpha-mannosidase 2C1; 3.2.1.24; Alpha mannosidase 6A8B; Alpha-D-mannoside mannohydrolase; Mannosidase alpha class 2C member 1", "protein_names_refseq": "alpha mannosidase 6A8B; alpha-D-mannoside mannohydrolase; alpha-mannosidase 2C1 isoform 2; alpha-mannosidase 2C1; cytosolic alpha-mannosidase; mannosidase, alpha 6A8; mannosidase, alpha A, cytoplasmic; testicular tissue protein Li 115", "tax_id": 9606, "disease": "congenital disorder of deglycosylation 2 (Disease Ontology:DOID:0060990)", "pathway": " (hsa:4123); (R-HSA-8853383)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10513892;11230166;11237011;11350179;1576208;16115860;16848760;17081983;17420068;19722277;21508515;21556061;23481700;23486476;24715725;25345101;25576301;25645385;25762455;26154972;26375851;27355585;27846572;27862975;27920218;28218747;28228285;28832583;28834231;29242379;29508533;29557506;29632046;29632711;29769354;30315122;30524438;30833945;31020640;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33717175;33936100;33968037;34087483;34171305;34211107;34509645;34932366;35045343;35051231;35580925;36241641;36284347;36580660;37217939;8910458;9384606", "class_list": "glycogene;glycosylhydrolase", "function": "Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues on cytoplasmic free oligosaccharides generated by N-glycoprotein degradation pathways., [UniProtKB, PubMed]; Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder., [RefSeq, PubMed]; MAN2C1 binds PTEN thereby inhibiting its phosphatidylinositol 3,4,5 triphosphate phosphatase activity, [RefSeq, PubMed]; MAN2C1 may contribute to the verbal difficulties observed in microduplications and to the intellectual disability of microdeletion syndromes Publication Status: Online-Only, [RefSeq, PubMed]; MAN2C1 methylation levels modify cumulative traumatic burden on risk of post traumatic stress disorder, [RefSeq, PubMed]; Man2C1 has dual functions: one in glycan catabolism and another in apoptotic signaling., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1356, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "H3BMX2;H3BQY8;H3BUT6;Q13358;Q68EM8;Q9UL64", "ec_number_list": [ { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0004559 alpha-mannosidase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006013 mannose metabolic process;GO:0009313 oligosaccharide catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9NTJ4-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0J9-1", "uniprot_id": [ { "id": "PAR12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0J9", "type": "external" } ], "mass": 79064.0, "length": 701, "protein_name": "Protein mono-ADP-ribosyltransferase PARP12", "gene_name": "PARP12", "organism": "Human", "refseq_name": "protein mono-ADP-ribosyltransferase PARP12", "refseq_ac": [ { "id": "NP_073587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073587", "type": "external" } ], "gene_names_uniprotkb": "PARP12; ZC3HDC1", "gene_names_refseq": "ARTD12; MST109; MSTP109; PARP12; ZC3H1; ZC3HDC1", "protein_names_uniprotkb": "Protein mono-ADP-ribosyltransferase PARP12; 2.4.2.-; ADP-ribosyltransferase diphtheria toxin-like 12; ARTD12; PARP-12; Poly [ADP-ribose] polymerase 12; Zinc finger CCCH domain-containing protein 1", "protein_names_refseq": "ADP-ribosyltransferase diphtheria toxin-like 12; poly [ADP-ribose] polymerase 12; protein mono-ADP-ribosyltransferase PARP12; zinc finger CCCH type domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64761)", "pathway_count": 1, "publication_count": 75, "publication_id_list": "11230166;11237011;12851707;18669648;19729601;20068231;20106667;23481700;24275569;24715725;25043379;25576301;25635049;25645385;26154972;26216489;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29070863;29242379;29331515;29393594;29437277;29493099;29557506;29632711;29786170;30154409;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31844290;31848261;31998317;32157095;32357974;32488085;32502341;32897882;32938616;32983136;33392160;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34187568;34932366;34969853;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37938771;39465252;39888989;40914422", "class_list": "", "function": "FLJ22693, TIPARP and ZAP proteins with TPH, WW and PARP-like domains constitute the TIPARP family., [RefSeq, PubMed]; Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins (PubMed:25043379, PubMed:34969853). Acts as an antiviral factor by cooperating with PARP11 to suppress Zika virus replication (PubMed:34187568). Displays anti-alphavirus activity during IFN-gamma immune activation by directly ADP-ribosylating the alphaviral non-structural proteins nsP3 and nsP4 (PubMed:39888989). Acts as a component of the PRKD1-driven regulatory cascade that selectively controls a major branch of the basolateral transport pathway by catalyzing the MARylation of GOLGA1 (PubMed:34969853). Acts also as a key regulator of mitochondrial function, protein translation, and inflammation. Inhibits PINK1/Parkin-dependent mitophagy and promotes cartilage degeneration by inhibiting the ubiquitination and SUMOylation of MFN1/2 by upregulating ISG15 and ISGylation (PubMed:39465252)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PARP12 is a tumor suppressor that plays an important role in HCC metastasis through the regulation of FHL2 stability and TGF-beta1 expression. Publication Status: Online-Only, [RefSeq, PubMed]; PKD-dependent PARP12-catalyzed mono-ADP-ribosylation of Golgin-97 is required for E-cadherin transport from Golgi to plasma membrane., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9H610;Q9NP36;Q9NTI3", "ec_number_list": [ { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "type": "external" } ], "go_molecular_function": "GO:1990404 NAD+-protein mono-ADP-ribosyltransferase activity;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005802 trans-Golgi network;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0070213 protein auto-ADP-ribosylation;GO:0070633 transepithelial transport", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9H0J9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8R3-1", "uniprot_id": [ { "id": "S2529_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8R3", "type": "external" } ], "mass": 32062.0, "length": 303, "protein_name": "Mitochondrial basic amino acids transporter", "gene_name": "SLC25A29", "organism": "Human", "refseq_name": "mitochondrial basic amino acids transporter isoform 1", "refseq_ac": [ { "id": "NP_001034444", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034444", "type": "external" } ], "gene_names_uniprotkb": "SLC25A29; C14orf69; ORNT3", "gene_names_refseq": "C14orf69; CACL; ORNT3; SLC25A29", "protein_names_uniprotkb": "Mitochondrial basic amino acids transporter; CACT-like; Carnitine/acylcarnitine translocase-like; Mitochondrial carnitine/acylcarnitine carrier protein CACL; Mitochondrial ornithine transporter 3; Solute carrier family 25 member 29", "protein_names_refseq": "carnitine-acylcarnitine translocase like; mitochondrial basic amino acids transporter isoform 1; mitochondrial basic amino acids transporter; mitochondrial carnitine/acylcarnitine carrier protein CACL; mitochondrial ornithine transporter 3; solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29", "tax_id": 9606, "disease": "", "pathway": " (hsa:123096); (R-HSA-352230)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10358010;10391915;10485994;10698697;10823827;10863037;10891391;10903140;10930503;11237011;11243884;11278508;11318953;11342143;11417227;11591158;11827462;12202949;12527723;12809675;12930836;15151999;15659399;15918515;18195088;19287344;20877624;21097500;23266187;24652292;25576301;26154972;26992070;27600516;28228285;28832583;28834231;29242379;29331515;29459713;29557506;30429286;31844290;32157095;32488085;33592498;33968037;35051231;36241641;39894887;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9878049", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Mitochondrial transporter of arginine, lysine, homoarginine, methylarginine and, to a much lesser extent, ornithine and histidine (PubMed:19287344, PubMed:24652292). Does not transport carnitine nor acylcarnitines (PubMed:24652292). Functions by both counter-exchange and uniport mechanisms (PubMed:24652292). Plays a physiological role in the import of basic amino acids into mitochondria for mitochondrial protein synthesis and amino acid degradation (PubMed:19287344, PubMed:24652292)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Results provide evidence that aberrant elevated SLC25A29 in cancer functioned to transport more arginine into mitochondria, improved mitochondria-derived nitric oxide levels, thus modulated metabolic status to facilitate increased cancer progression., [RefSeq, PubMed]; The human and mouse SLC25A29 mitochondrial ornithine transporters (designated as ORNT3) rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome., [RefSeq, PubMed]; The main physiological role of SLC25A29 is to import basic amino acids into mitochondria for mitochondrial protein synthesis and amino acid degradation., [RefSeq, PubMed]; This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions. This gene product was previously reported to be a mitochondrial carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or an ornithine transporter (designated ORNT3, PMID:19287344), however, a recent study characterized the main role of this protein as a mitochondrial transporter of basic amino acids, with a preference for arginine and lysine (PMID:24652292). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A3KMR5;Q541V0", "ec_number_list": [], "go_molecular_function": "GO:0005289 high-affinity L-arginine transmembrane transporter activity;GO:0005292 high-affinity lysine transmembrane transporter activity;GO:0015174 basic amino acid transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006865 amino acid transport;GO:0015822 ornithine transport;GO:0089709 L-histidine transmembrane transport;GO:1903401 L-lysine transmembrane transport;GO:1990575 mitochondrial L-ornithine transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q8N8R3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SG7-1", "uniprot_id": [ { "id": "LYG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SG7", "type": "external" } ], "mass": 23498.0, "length": 212, "protein_name": "Lysozyme g-like protein 2", "gene_name": "LYG2", "organism": "Human", "refseq_name": "lysozyme g-like protein 2 precursor", "refseq_ac": [ { "id": "NP_783862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_783862", "type": "external" } ], "gene_names_uniprotkb": "LYG2; LYGH", "gene_names_refseq": "LYG2; LYGA2; LYGH; LYSG2", "protein_names_uniprotkb": "Lysozyme g-like protein 2; 3.2.1.-", "protein_names_refseq": "lysozyme G-like 2; lysozyme g-like protein 2 precursor; lysozyme g-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:254773)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;12574869;21093056;28274309;29557506", "class_list": "glycogene;glycosylhydrolase", "function": "HLysG2 is a potent antibacterial protein that may play a role in the innate immunity of the human eye., [RefSeq, PubMed]; HLysG2 was identified and purified from human seminal plasma and showed a significant killing effect on Micrococcus lysodeikticus, Bacillus subtilis and Staphylococcus aureus., [RefSeq, PubMed]; May act as a potent antibacterial protein that may play a role in the innate immunity., [UniProtKB, PubMed]; The protein encoded by this gene contains a SLT domain, a protein domain present in bacterial lytic transglycosylase (SLT) and in eukaryotic lysozymes (GEWL). SLT domain catalyzes the cleavage of the beta-1,4-glycosidic bond between N-acetylmuramic acid (MurNAc) and N-acetyglucosamine (GlcNAc). [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 270, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q496G2;Q53RW0", "ec_number_list": [], "go_molecular_function": "GO:0003796 lysozyme activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0050830 defense response to Gram-positive bacterium;GO:0042742 defense response to bacterium;GO:0009253 peptidoglycan catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q86SG7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48740-1", "uniprot_id": [ { "id": "MASP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P48740", "type": "external" } ], "mass": 79247.0, "length": 699, "protein_name": "Mannan-binding lectin serine protease 1", "gene_name": "MASP1", "organism": "Human", "refseq_name": "mannan-binding lectin serine protease 1 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001027019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027019", "type": "external" } ], "gene_names_uniprotkb": "MASP1; CRARF1; CRARF; PRSS5", "gene_names_refseq": "3MC1; CRARF1; CRARF; MAP-1; MAP1; MASP-3; MASP1; MASP3; MASP; MAp44; PRSS5; RaRF", "protein_names_uniprotkb": "Mannan-binding lectin serine protease 1; 3.4.21.-; Complement-activating component of Ra-reactive factor; MASP-1; Mannose-binding lectin-associated serine protease 1; Mannose-binding protein-associated serine protease; Ra-reactive factor serine protease p100; RaRF; Serine protease 5", "protein_names_refseq": "C4/C2 activating component of Ra-reactive factor; Ra-reactive factor serine protease p100; complement factor MASP-3; complement-activating component of Ra-reactive factor; mannan binding lectin serine peptidase 1; mannan-binding lectin serine protease 1 isoform 3 precursor; mannan-binding lectin serine protease 1; mannose-associated serine protease 1; mannose-binding lectin-associated serine protease 1; mannose-binding protein-associated serine protease; serine protease 5", "tax_id": 9606, "disease": "3MC syndrome (Disease Ontology:DOID:0060225); 3MC syndrome 1 (Disease Ontology:DOID:0060575)", "pathway": " (hsa:5648); (R-HSA-166662); (R-HSA-166663); (R-HSA-2855086); (R-HSA-3000480); (R-HSA-9705671)", "pathway_count": 6, "publication_count": 185, "publication_id_list": "10.1101/2023.09.13.557529;10224290;10475605;10639434;10651831;10679061;10686426;10722588;10878362;10925294;10946292;11012776;11237011;11290788;11485744;11527969;11532276;11564734;11820786;11907111;12019269;12367778;12396008;12421953;12488451;12538697;12692549;12759408;12761161;12763022;12847263;1339697;14280442;14609958;14707097;15034049;15078867;15199963;15208624;15728497;15804047;16116205;16237101;16335952;16525990;16554018;16882874;16926412;16984918;17179669;17182967;17215869;17332894;17709607;17897951;17938215;18343499;1852209;18596036;19073604;19139490;19227971;19564340;19911804;20032467;20038603;20360967;20375619;20375634;20400674;20810988;20849212;20888598;20956340;21035106;21258343;21730084;21782039;22238349;22511776;2251254;22570530;22691502;22854970;22941947;22966085;23090970;2318890;23197261;23386610;23792966;23861840;24190977;26173080;26419238;26992070;27535802;27862975;28301481;29557506;29671580;29741879;29789417;31154438;31850239;32353859;32428392;32589897;32726803;32728199;32953130;32979938;33024073;33060197;33097660;33110251;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33963333;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34597346;3467373;35102342;35483450;35580925;35643212;36032172;36126499;36166216;36196721;37051252;37074911;37217939;6019133;6088540;6255257;70787;7391573;7607209;8018603;8127896;8240317;8429030;8538770;8751442;8784195;8921412;9087411;9225214;9367419;9465098;9468508;9511720;9548586", "class_list": "glycogene", "function": "Complement lectin pathway components MBL and MASP-1 promote haemostasis upon vessel injury in a microvascular bleeding model. Publication Status: Online-Only, [RefSeq, PubMed]; Comprehensive analysis of the immune and prognostic implication of MASP1 in stomach adenocarcinoma., [RefSeq, PubMed]; Identification of substrates of MBL Associated Serine Protease-1 (MASP-1) from human plasma using N-terminomics strategy., [RefSeq, PubMed]; MASP1 Gene Polymorphism and MASP-3 Serum Levels in Patients with Chronic Chagas Disease., [RefSeq, PubMed]; Precursor of a serum protease that activates the complement pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Serine protease that activates the alternative pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:20038603, PubMed:23792966, PubMed:27535802). The alternative complement pathway acts as an amplification loop that enhances other complement pathways (PubMed:27535802). Isoform MASP-3 specifically catalyzes cleavage and activation of factor D (CFD), the protease that initiates the alternative complement pathway (PubMed:20038603, PubMed:27535802)., [UniProtKB, PubMed, PubMed, PubMed]; Serine protease that activates the lectin pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:10946292, PubMed:11527969, PubMed:12538697, PubMed:22691502, PubMed:22966085, PubMed:9087411). The lectin complement system is activated following association of lectins, such as MBL2, FCN1, FCN2 or FCN3, to carbohydrates on the pathogen surface (PubMed:22854970, PubMed:22966085, PubMed:23386610, PubMed:9087411). Following autoproteolytic processing in response to lectin-binding to pathogen carbohydrates, catalyzes cleavage and activation of MASP2, the next component of the lectin complement pathway (PubMed:22691502, PubMed:22966085, PubMed:23386610)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 980, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 25, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K542;A8K6M1;B4E2L7;O95570;Q68D21;Q8IUV8;Q96RS4;Q9UF09", "ec_number_list": [ { "id": "3.4.21.41", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.41", "type": "external" }, { "id": "3.4.21.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.42", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0009986 cell surface", "go_biological_process": "GO:0051604 protein maturation;GO:0001867 complement activation, lectin pathway;GO:0031638 zymogen activation;GO:0045916 negative regulation of complement activation;GO:0006957 complement activation, alternative pathway", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "P48740-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IV63-1", "uniprot_id": [ { "id": "VRK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IV63", "type": "external" } ], "mass": 52881.0, "length": 474, "protein_name": "Serine/threonine-protein kinase VRK3", "gene_name": "VRK3", "organism": "Human", "refseq_name": "serine/threonine-protein kinase VRK3 isoform 2", "refseq_ac": [ { "id": "NP_001020949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020949", "type": "external" } ], "gene_names_uniprotkb": "VRK3", "gene_names_refseq": "VRK3", "protein_names_uniprotkb": "Serine/threonine-protein kinase VRK3; 2.7.11.22; Vaccinia-related kinase 3", "protein_names_refseq": "inactive serine/threonine-protein kinase VRK3; serine/threonine-protein kinase VRK3 isoform 2; serine/threonine-protein kinase VRK3; serine/threonine-protein pseudokinase VRK3; vaccinia related kinase 3", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:51231); (R-HSA-202670)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "11237011;14645249;17322878;17344846;18452278;18617507;18669648;19141289;19664994;19664995;19690332;20068231;21406692;22424782;23186163;23301498;23481700;24715725;25418920;25576301;25645385;25899223;26154972;26375851;26992070;27346674;27846572;27862975;27869121;27920218;27941812;28228285;28514659;28832583;28860189;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29786170;30315122;30379171;30429286;30524438;30833945;31154438;31217245;31324890;31530632;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33067254;33123756;33141586;33298915;33537174;33691108;33912179;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;35051231;35132862;35561310;35580925;36010968;36284347;37938771;40307207;40596516", "class_list": "", "function": "Plays a role in the regulation of the cell cycle by phosphorylating the nuclear envelope protein barrier-to-autointegration factor/BAF that is required for disassembly and reassembly, respectively, of the nuclear envelope during mitosis (PubMed:25899223). Under normal physiological conditions, negatively regulates ERK activity along with VHR/DUSP3 phosphatase in the nucleus, causing timely and transient action of ERK. Stress conditions activate CDK5 which phosphorylates VRK3 to increase VHR phosphatase activity and suppress prolonged ERK activation that causes cell death (PubMed:27346674). For example, upon glutamate induction, promotes nuclear localization of HSP70/HSPA1A to inhibit ERK activation via VHR/DUSP3 phosphatase (PubMed:27941812)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; RNF144a induces ERK-dependent cell death under oxidative stress via downregulation of vaccinia-related kinase 3. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; VRK3 is an interesting and promising target in Diffuse intrinsic pontine glioma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NEG5;A8KA53;Q502Y2;Q9P2V8", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019903 protein phosphatase binding;GO:0072542 protein phosphatase activator activity;GO:0004693 cyclin-dependent protein serine/threonine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0006974 DNA damage response;GO:0007519 skeletal muscle tissue development", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q8IV63-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14765-1", "uniprot_id": [ { "id": "STAT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14765", "type": "external" } ], "mass": 85941.0, "length": 748, "protein_name": "Signal transducer and activator of transcription 4", "gene_name": "STAT4", "organism": "Human", "refseq_name": "signal transducer and activator of transcription 4", "refseq_ac": [ { "id": "NP_001230764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230764", "type": "external" } ], "gene_names_uniprotkb": "STAT4", "gene_names_refseq": "DPMC; SLEB11; STAT4", "protein_names_uniprotkb": "Signal transducer and activator of transcription 4", "protein_names_refseq": "signal transducer and activator of transcription 4", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); polymyositis (Disease Ontology:DOID:0080745); disabling pansclerotic morphea (Disease Ontology:DOID:0081373); dermatomyositis (Disease Ontology:DOID:10223); primary biliary cholangitis (Disease Ontology:DOID:12236); Vogt-Koyanagi-Harada disease (Disease Ontology:DOID:12297); Sjogren's syndrome (Disease Ontology:DOID:12894); Behcet's disease (Disease Ontology:DOID:13241); limited scleroderma (Disease Ontology:DOID:1577); diffuse scleroderma (Disease Ontology:DOID:1580); viral hepatitis (Disease Ontology:DOID:1884); rectum adenocarcinoma (Disease Ontology:DOID:1996); autoimmune hepatitis (Disease Ontology:DOID:2048); asthma (Disease Ontology:DOID:2841); IgA glomerulonephritis (Disease Ontology:DOID:2986); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); systemic scleroderma (Disease Ontology:DOID:418); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); Sezary's disease (Disease Ontology:DOID:8541); cholesteatoma (Disease Ontology:DOID:869); genital herpes (Disease Ontology:DOID:8704); psoriasis (Disease Ontology:DOID:8893); psoriatic arthritis (Disease Ontology:DOID:9008); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); systemic lupus erythematosus, susceptibility to, 11 (MONDO:MONDO:0012835)", "pathway": " (hsa:6775); (R-HSA-8854691); (R-HSA-8950505); (R-HSA-8984722); (R-HSA-9020591); (R-HSA-9020933); (R-HSA-9020958); (R-HSA-9942503)", "pathway_count": 8, "publication_count": 144, "publication_id_list": "10415122;10875937;10899108;10961885;11016959;11054122;11114383;11163236;11196675;11237011;11390453;11390454;11418623;11481447;11564763;11706020;12023369;12087100;12093291;12121660;12213961;12244150;12351624;12469119;12517932;12759422;12829785;12893768;12947981;1347984;14580208;14764663;15004198;15087447;15120653;15166220;15178681;15720785;1578138;15919823;16038020;16138901;16324152;1662392;1674604;16750817;16959974;16982608;17110450;17377532;17502367;17804842;17874423;17878297;18033300;18389480;18599299;18669613;18830264;18840671;18941194;19109131;19161421;19457860;19535621;20054003;20462497;20671117;20699468;20966397;21098725;22306691;22487722;22802649;22814351;22962576;23481700;24058793;24572363;24714562;24715725;24743305;24842371;25004819;25259790;25516297;25576301;26109132;26154972;26279360;26887945;26972013;26990433;27133025;27774606;28228285;28458652;28832583;28877912;28904123;29242379;29314611;29351928;29393594;29493099;29508533;29557506;29632046;29769354;29786170;30379171;31937595;31998317;32157095;32213463;32938616;32983136;33141586;33968037;34508746;34531288;35051231;35154160;35580925;35614130;36010968;36241641;36284347;37256972;38654468;38774752;39188021;39337665;7512451;7527811;7543512;7638186;7911493;8830676;8943050;8943379;9342359;9498755;9890938", "class_list": "", "function": "Association between STAT4 gene polymorphism and susceptibility to pulmonary tuberculosis in the Moldavian population., [RefSeq, PubMed]; Investigating the Link between STAT4 Genetic Variants, STAT4 Protein Concentrations, and Laryngeal Squamous Cell Carcinoma: A Comprehensive Analysis of Clinical Manifestations. Publication Status: Online-Only, [RefSeq, PubMed]; STAT4 and STAT6, their role in cellular and humoral immunity and in diverse human diseases. Review article, [RefSeq, PubMed]; The Role of JAK-STAT-SOCS1 Axis in Tumorigenesis, Malignant Progression and Lymphatic Metastasis of Penile Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]., [RefSeq]; Transcriptional regulator mainly expressed in hematopoietic cells that plays a critical role in cellular growth, differentiation and immune response (PubMed:10961885, PubMed:37256972, PubMed:8943379). Plays a key role in the differentiation of T-helper 1 cells and the production of interferon-gamma (PubMed:12213961, PubMed:35614130). Also participates in multiple neutrophil functions including chemotaxis and production of the neutrophil extracellular traps (By similarity). After IL12 binding to its receptor IL12RB2, STAT4 interacts with the intracellular domain of IL12RB2 and becomes tyrosine phosphorylated (PubMed:10415122, PubMed:7638186). Phosphorylated STAT4 then homodimerizes and migrates to the nucleus where it can recognize STAT target sequences present in IL12 responsive genes. Although IL12 appears to be the predominant activating signal, STAT4 can also be phosphorylated and activated in response to IFN-gamma stimulation via JAK1 and TYK2 and in response to different interleukins including IL23, IL2 and IL35 (PubMed:11114383, PubMed:34508746). Transcription activation of IFN-gamma gene is mediated by interaction with JUN that forms a complex that efficiently interacts with the AP-1-related sequence of the IFN-gamma promoter (By similarity). In response to IFN-alpha/beta signaling, acts as a transcriptional repressor and suppresses IL5 and IL13 mRNA expression during response to T-cell receptor (TCR) activation (PubMed:26990433)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 28, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q96NZ6", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016604 nuclear body", "go_biological_process": "GO:0045063 T-helper 1 cell differentiation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006952 defense response;GO:0042127 regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "Q14765-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RV3-1", "uniprot_id": [ { "id": "PCX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RV3", "type": "external" } ], "mass": 258676.0, "length": 2341, "protein_name": "Pecanex-like protein 1", "gene_name": "PCNX1", "organism": "Human", "refseq_name": "pecanex-like protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001295089", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295089", "type": "external" } ], "gene_names_uniprotkb": "PCNX1; KIAA0805; KIAA0995; PCNXL1; PCNX", "gene_names_refseq": "PCNX1; PCNXL1; PCNX; pecanex", "protein_names_uniprotkb": "Pecanex-like protein 1; Pecanex homolog protein 1", "protein_names_refseq": "pecanex homolog 1; pecanex-like protein 1 isoform 2; pecanex-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:22990)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18669648;19240061;23481700;24397554;25576301;25645385;25802875;25892735;26154972;26375851;26811146;26992070;27600516;27846572;28228285;28514659;28789966;28832583;28834231;28904123;29242379;29351928;29393594;29493099;29557506;29632046;29769354;29786170;30315122;30429286;30524438;31092671;31217245;31844290;31848261;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34509645;35051231;35154160;35318648;35580925;36010968;36241641", "class_list": "", "function": "High PCNX expression is associated with lung cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 15, "predicted_n_glycosites": 14, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 90, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "B2RTR6;O94897;Q96AI7;Q9Y2J9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q96RV3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16342-1", "uniprot_id": [ { "id": "PDCD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16342", "type": "external" } ], "mass": 38592.0, "length": 344, "protein_name": "uS5 assembly chaperone PDCD2", "gene_name": "PDCD2", "organism": "Human", "refseq_name": "uS5 assembly chaperone PDCD2 isoform 4", "refseq_ac": [ { "id": "NP_001186391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186391", "type": "external" } ], "gene_names_uniprotkb": "PDCD2; RP8; ZMYND7", "gene_names_refseq": "PDCD2; RP8; ZMYND7", "protein_names_uniprotkb": "uS5 assembly chaperone PDCD2; Programmed cell death protein 2; Zinc finger MYND domain-containing protein 7; Zinc finger protein Rp-8", "protein_names_refseq": "programmed cell death protein 2; uS5 assembly chaperone PDCD2 isoform 4; uS5 assembly chaperone PDCD2; zinc finger MYND domain-containing protein 7; zinc finger protein Rp-8", "tax_id": 9606, "disease": "", "pathway": " (hsa:5134)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;15848047;16311922;19146857;24366607;24714562;25576301;25892735;26728094;27697862;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29769354;29786170;30429286;30664177;30833945;31530632;31844290;31848261;32265295;32357974;32502341;32938616;32983136;33245768;33592498;33691108;33717175;33968037;34087483;34171305;34561969;34932366;35051231;7606924", "class_list": "", "function": "Chaperone for ribosomal protein uS5; cotranslationally associates with uS5 and accompanies the ribosomal protein to assembly sites in the nucleus; appears to function redundantly to PDCD2L., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PDCD2 functions as an evolutionarily conserved chaperone dedicated for the 40S ribosomal protein uS5 (RPS2)., [RefSeq, PubMed]; The present study elucidated for the first time, to the best of our knowledge, that PDCD2 sensitizes sorafenibresistant HepG2 cells to sorafenib by the downregulation of EMT. PDCD2 may serve as a potential therapeutic target in the treatment of sorafenibresistant liver cancer., [RefSeq, PubMed]; This gene encodes a nuclear protein expressed in a variety of tissues. Expression of this gene has been shown to be repressed by B-cell CLL/lymphoma 6 (BCL6), a transcriptional repressor required for lymph node germinal center development, suggesting that BCL6 regulates apoptosis by its effects on this protein. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 9 and 12. [provided by RefSeq, Dec 2010]., [RefSeq]; To study the role of PDCD2_C domain in apoptosis, the cDNAs of two isoforms of PDCD2 and MGC13096 were cloned. PDCD2 (NM_002598) was over expressed when endothelial cells treated with leukotriene D4 or natural killer cells were activated by IL-2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PCU7;F5GYS7;Q58HM9;Q58HN0;Q9UH12", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0140597 protein carrier chaperone;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005737 cytoplasm", "go_biological_process": "GO:1901532 regulation of hematopoietic progenitor cell differentiation;GO:0012501 programmed cell death;GO:0042274 ribosomal small subunit biogenesis;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q16342-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WX93-1", "uniprot_id": [ { "id": "PALLD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WX93", "type": "external" } ], "mass": 150564.0, "length": 1383, "protein_name": "Palladin", "gene_name": "PALLD", "organism": "Human", "refseq_name": "palladin isoform 1", "refseq_ac": [ { "id": "NP_001159580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159580", "type": "external" } ], "gene_names_uniprotkb": "PALLD; CGI-151; KIAA0992", "gene_names_refseq": "CGI-151; CGI151; MYN; PALLD; PNCA1; SIH002", "protein_names_uniprotkb": "Palladin; SIH002; Sarcoma antigen NY-SAR-77", "protein_names_refseq": "myoneurin; palladin isoform 1; sarcoma antigen NY-SAR-77", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); pancreatic cancer, susceptibility to, 1 (MONDO:MONDO:0011739)", "pathway": " (hsa:23022)", "pathway_count": 1, "publication_count": 91, "publication_id_list": "11237011;11466336;11598191;12601173;15147863;16125169;16175505;16367745;16754980;16794588;16964243;17081983;17194196;17322171;17415588;17455999;17537434;18669648;19690332;20068231;20471940;21406692;23186163;23301498;23481700;24275569;25418920;25576301;25645385;26811146;27600516;27846572;27862975;27920218;28218747;28510447;28657654;28904123;29242379;29331515;29393594;29437277;29557506;29786170;29789417;30315122;30379171;30410026;30429286;30484775;30779550;31154438;31373491;31492838;31844290;31848261;32157095;32161166;32357974;32488085;32938616;32983136;33214551;33298915;33392160;33592498;33912179;33968037;33981976;34019948;34087483;34171305;34725712;35051231;35251023;35254053;35318648;35513511;35580925;36010968;36047666;36215666;36241641;36284347;36551236;37712274;37938771;38253038;38665916;39534244;40596516", "class_list": "", "function": "Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of cell types. May function as a scaffolding molecule with the potential to influence both actin polymerization and the assembly of existing actin filaments into higher-order arrays. Binds to proteins that bind to either monomeric or filamentous actin. Localizes at sites where active actin remodeling takes place, such as lamellipodia and membrane ruffles. Different isoforms may have functional differences. Involved in the control of morphological and cytoskeletal changes associated with dendritic cell maturation. Involved in targeting ACTN to specific subcellular foci., [UniProtKB, PubMed, PubMed, PubMed]; Different Extracellular beta-Amyloid (1-42) Aggregates Differentially Impair Neural Cell Adhesion and Neurite Outgrowth through Differential Induction of Scaffold Palladin. Publication Status: Online-Only, [RefSeq, PubMed]; Palladin promotes cancer stem cell-like properties in lung cancer by activating Wnt/Beta-Catenin signaling., [RefSeq, PubMed]; These results identify palladin 4Ig as a novel marker of myofibroblast conversion in vitro and in vivo., [RefSeq, PubMed]; This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]; [High expression of Circ-PALLD in heart failure is transcriptionally regulated by the transcription factor GATA4]., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "B3KTG2;B5MD56;B7ZMM5;Q7L3E0;Q7Z3W0;Q86WE8;Q8N1M2;Q9UGA0;Q9UQF5;Q9Y2J6;Q9Y3E9", "ec_number_list": [], "go_molecular_function": "GO:0051371 muscle alpha-actinin binding;GO:0003779 actin binding;GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005884 actin filament;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0016477 cell migration;GO:0030036 actin cytoskeleton organization;GO:0007010 cytoskeleton organization;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q8WX93-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40426-1", "uniprot_id": [ { "id": "PBX3_HUMAN", "url": "https://www.uniprot.org/uniprot/P40426", "type": "external" } ], "mass": 47190.0, "length": 434, "protein_name": "Pre-B-cell leukemia transcription factor 3", "gene_name": "PBX3", "organism": "Human", "refseq_name": "pre-B-cell leukemia transcription factor 3 isoform 2", "refseq_ac": [ { "id": "NP_001128250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128250", "type": "external" } ], "gene_names_uniprotkb": "PBX3", "gene_names_refseq": "PBX3", "protein_names_uniprotkb": "Pre-B-cell leukemia transcription factor 3; Homeobox protein PBX3", "protein_names_refseq": "homeobox protein PBX3; pre-B-cell leukemia homeobox 3; pre-B-cell leukemia transcription factor 3 isoform 2; pre-B-cell leukemia transcription factor 3", "tax_id": 9606, "disease": "esophagus squamous cell carcinoma (Disease Ontology:DOID:3748)", "pathway": " (hsa:5090)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10825160;11237011;11579467;1682799;23481700;24714562;25576301;25880248;26154972;26992070;27600516;27920218;28218747;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30429286;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32357974;32488085;32502341;33123756;33141586;33592498;33912179;33968037;33981976;34087483;34171305;34932366;35051231;35318648;35414770;35580925;36284347;37300672;37730964;37938771;38324550;38528641;7910944", "class_list": "", "function": "Exosomal circKIAA1797 Regulates Cell Progression and Glycolysis by Targeting miR-4429/PBX3 Pathway in Gastric Cancer., [RefSeq, PubMed]; LncRNA LINC00885 promotes bladder cancer progression by targeting the miR-98-5p/PBX3 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Low expression of miR-182 caused by DNA hypermethylation accelerates acute lymphocyte leukemia development by targeting PBX3 and BCL2: miR-182 promoter methylation is a predictive marker for hypomethylation agents + BCL2 inhibitor venetoclax. Publication Status: Online-Only, [RefSeq, PubMed]; PBX3 as a biomarker for the early diagnosis and prediction of prognosis of glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional activator that binds the sequence 5'-ATCAATCAA-3'., [UniProtKB]; USF1-ATRAP-PBX3 Axis Promote Breast Cancer Glycolysis and Malignant Phenotype by Activating AKT/mTOR Signaling. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PB27;Q5JSA0;Q5JSA1;Q5VXL3;Q96PF9;Q96PG0", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007420 brain development;GO:0009887 animal organ morphogenesis;GO:0048666 neuron development", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "P40426-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AG4-1", "uniprot_id": [ { "id": "LRC59_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AG4", "type": "external" } ], "mass": 34930.0, "length": 307, "protein_name": "Leucine-rich repeat-containing protein 59", "gene_name": "LRRC59", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 59", "refseq_ac": [ { "id": "NP_060979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060979", "type": "external" } ], "gene_names_uniprotkb": "LRRC59; PRO1855", "gene_names_refseq": "LRRC59; PRO1855; p34", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 59; Ribosome-binding protein p34; p34", "protein_names_refseq": "leucine-rich repeat-containing protein 59; ribosome-binding protein p34", "tax_id": 9606, "disease": "", "pathway": " (hsa:55379)", "pathway_count": 1, "publication_count": 83, "publication_id_list": "11237011;11964394;16541025;18669648;20068231;22121020;22321063;23481700;24275569;24715725;25418920;25489052;25576301;25645385;26154972;26811146;26992070;27452731;27600516;27846572;27893789;27920218;28228285;28832583;28834231;28855257;28904123;29242379;29314611;29393594;29557506;29632046;29786170;29789417;29930882;30315122;30429286;30444036;30524438;30650545;30779550;31068071;31154438;31217245;31222486;31530632;31611695;31844290;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32788342;32897882;32938616;32983136;33214551;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34171305;34561969;34932366;35051231;35083852;35251023;35318648;35580925;36010968;36215666;36241641;37217939;37706625;38665916", "class_list": "", "function": "LRRC59 facilitates transport of cytosolic FGF1 through nuclear pores by interaction with Kpns and movement of LRRC59 along the ER and NE membranes, [RefSeq, PubMed]; LRRC59 modulates type I interferon signaling by restraining the SQSTM1/p62-mediated autophagic degradation of pattern recognition receptor DDX58/RIG-I., [RefSeq, PubMed]; LRRC59 serves as a novel biomarker for predicting the progression and prognosis of bladder cancer., [RefSeq, PubMed]; Quantitative Proteomics Links the LRRC59 Interactome to mRNA Translation on the ER Membrane., [RefSeq, PubMed]; Required for nuclear import of FGF1, but not that of FGF2. Might regulate nuclear import of exogenous FGF1 by facilitating interaction with the nuclear import machinery and by transporting cytosolic FGF1 to, and possibly through, the nuclear pores., [UniProtKB, PubMed]; The mechanisms of membrane integration of LRRC59 and its targeting to the inner nuclear membrane (INM), were investigated. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RE83;D3DTX8;Q9P189", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0042645 mitochondrial nucleoid", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q96AG4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43504-1", "uniprot_id": [ { "id": "LTOR5_HUMAN", "url": "https://www.uniprot.org/uniprot/O43504", "type": "external" } ], "mass": 9614.0, "length": 91, "protein_name": "Ragulator complex protein LAMTOR5", "gene_name": "LAMTOR5", "organism": "Human", "refseq_name": "ragulator complex protein LAMTOR5 isoform 1", "refseq_ac": [ { "id": "NP_006393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006393", "type": "external" } ], "gene_names_uniprotkb": "LAMTOR5; HBXIP; XIP", "gene_names_refseq": "HBXIP; LAMTOR5; XIP", "protein_names_uniprotkb": "Ragulator complex protein LAMTOR5; HBV X-interacting protein; HBX-interacting protein; Hepatitis B virus X-interacting protein; Late endosomal/lysosomal adaptor and MAPK and MTOR activator 5", "protein_names_refseq": "HBV X-interacting protein; HBx-interacting protein; hepatitis B virus x interacting protein; hepatitis B virus x-interacting protein (9.6kD); late endosomal/lysosomal adaptor and MAPK and MTOR activator 5; ragulator complex protein LAMTOR5 isoform 1; ragulator complex protein LAMTOR5", "tax_id": 9606, "disease": "", "pathway": " (hsa:10542); (R-HSA-1632852); (R-HSA-165159); (R-HSA-166208); (R-HSA-380972); (R-HSA-5628897); (R-HSA-8943724); (R-HSA-9639288)", "pathway_count": 8, "publication_count": 251, "publication_id_list": "10203015;10329961;10501844;10654941;10716435;10745013;10980602;11018120;11029283;11034341;11096062;11237011;11340051;11378386;11486029;11545734;11557759;11781575;11788598;11825910;11925594;11959846;12150926;12151408;12161445;12203114;12438239;12453409;12524439;12714747;12742462;12773388;12805220;12869586;12906785;13298683;13538944;14511394;14517248;14614828;14651849;14985505;15105503;15187094;15223;15314020;15579580;15589136;15755954;15809305;15854902;15878852;15955450;16098514;16140933;16176273;16413492;16418168;16636147;16676006;16702404;16728594;16760263;16839880;16943194;16963840;1715244;17277771;17298220;17386266;17470430;17486094;17510057;17517883;17525332;17540029;17618624;17873065;17974977;18172008;18198340;18321988;18344994;18372248;18391013;18439900;18487508;18497260;18604198;18692468;19113821;19211835;19322194;19439913;19440552;19487573;19590496;19822145;19855179;19884659;19898463;20059746;20080666;20182617;20233713;20351271;20378837;20381137;20516213;20713597;20921139;21059355;21177865;21205641;21258367;21289308;21383122;21460621;21602892;21750704;21819378;21958598;22053050;22128185;22170151;22363791;22575674;22682742;22980980;23202584;23287862;23328677;23685627;23723238;23727157;23775793;23783831;23884233;24066844;24081491;24095279;24366607;24366874;24383451;24715725;24718924;24747438;24954904;25259925;25263562;25457612;25484072;25505266;25561175;25567906;25568151;25576301;25579166;25728608;25819761;25961827;25963655;26154972;26449471;26586190;26652033;26910647;26972053;26992070;27308486;27487210;27600516;27648300;27846572;27920218;28066558;28199306;28199315;28228285;28832583;28834231;28904123;28935770;29053970;29056322;29107538;29123071;29123114;29158492;29236692;29242379;29285400;29557506;29786170;30061680;30181260;30315122;30429286;30524438;30651352;30779550;30833945;31092671;31217245;31314152;31530632;31601708;31611695;31672913;31704029;31844290;31848261;32157095;32161166;32488085;32868926;32897882;32938616;32983136;33298915;33912179;33968037;33981976;34087483;34171305;34357683;34932366;35051231;35058442;35251023;35338845;35561310;35580925;36103527;36241641;36284347;36697823;38577934;38639386;5666113;7499430;7628435;7979252;7989588;8119488;8549768;8779952;9029102;9499022;9721431;9926927", "class_list": "", "function": "As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator plays a dual role for the small GTPases Rag (RagA/RRAGA, RagB/RRAGB, RagC/RRAGC and/or RagD/RRAGD): it (1) acts as a guanine nucleotide exchange factor (GEF), activating the small GTPases Rag and (2) mediates recruitment of Rag GTPases to the lysosome membrane. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. When complexed to BIRC5, interferes with apoptosome assembly, preventing recruitment of pro-caspase-9 to oligomerized APAF1, thereby selectively suppressing apoptosis initiated via the mitochondrial/cytochrome c pathway., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Defective Lamtor5 Leads to Autoimmunity by Deregulating v-ATPase and Lysosomal Acidification., [RefSeq, PubMed]; Elevated levels of GDN/PN1 and XIP mRNAs induced by Allitridi provide valuable molecular evidence for elucidating garlic's efficacies against neurodegenerative and inflammatory diseases., [RefSeq, PubMed]; HBXIP up-regulates LTA expression in hepatocytes., [RefSeq, PubMed]; Hepatitis B virus pX interacts with HBXAP, [RefSeq, PubMed]; Research progress on oncoprotein hepatitis B X-interacting protein (Review). Review article, [RefSeq, PubMed]; Survivin-HBXIP complexes, but neither survivin nor HBXIP individually, bind pro-caspase-9, preventing its recruitment to Apaf1, and thereby selectively suppressing apoptosis., [RefSeq, PubMed]; This gene encodes a protein that specifically complexes with the C-terminus of hepatitis B virus X protein (HBx). The function of this protein is to negatively regulate HBx activity and thus to alter the replication life cycle of the virus. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0C4DGV4;Q6IBD8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0010628 positive regulation of gene expression;GO:0043066 negative regulation of apoptotic process;GO:0009615 response to virus;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 25.2, "record_id": "O43504-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9S9-1", "uniprot_id": [ { "id": "SNX31_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9S9", "type": "external" } ], "mass": 50802.0, "length": 440, "protein_name": "Sorting nexin-31", "gene_name": "SNX31", "organism": "Human", "refseq_name": "sorting nexin-31 isoform 1", "refseq_ac": [ { "id": "NP_689841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689841", "type": "external" } ], "gene_names_uniprotkb": "SNX31", "gene_names_refseq": "SNX31", "protein_names_uniprotkb": "Sorting nexin-31", "protein_names_refseq": "sorting nexin-31 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:169166)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;18452278;28892079;32938616;35051231", "class_list": "", "function": "May be involved in protein trafficking., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9J6L9;Q8N0U9", "ec_number_list": [], "go_molecular_function": "GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005769 early endosome;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8N9S9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKM7-1", "uniprot_id": [ { "id": "MA1B1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKM7", "type": "external" } ], "mass": 79580.0, "length": 699, "protein_name": "Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase", "gene_name": "MAN1B1", "organism": "Human", "refseq_name": "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase", "refseq_ac": [ { "id": "NP_057303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057303", "type": "external" } ], "gene_names_uniprotkb": "MAN1B1; PRO1477", "gene_names_refseq": "ERMAN1; ERManI; MAN1B1; MANA-ER; MRT15", "protein_names_uniprotkb": "Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase; 3.2.1.113; ER alpha-1,2-mannosidase; ER mannosidase 1; ERMan1; Man9GlcNAc2-specific-processing alpha-mannosidase; Mannosidase alpha class 1B member 1", "protein_names_refseq": "ER alpha 1,2-mannosidase; Man9GlcNAc2-specific processing alpha-mannosidase; endoplasmic Reticulum Class I alpha-mannosidase; endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1; endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase", "tax_id": 9606, "disease": "Rafiq syndrome (Disease Ontology:DOID:0081097)", "pathway": " (hsa:11253); (R-HSA-4793950); (R-HSA-901032); (R-HSA-9694548)", "pathway_count": 4, "publication_count": 98, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10409699;10521544;10694380;10995765;11237011;12090241;12913004;12975309;15713668;16431915;18003979;18264092;18417469;18426978;19084021;20345473;21763484;22915798;23232094;23584533;24348268;24566669;24714562;25092655;25576301;25576336;25813380;26279649;26811146;26992070;27846572;27862975;28218747;28228285;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29508533;29557506;29632046;29632711;29786170;29908352;30315122;30429286;30459171;30484775;31154438;31611695;31844290;31848261;32157095;32161166;32265295;32350084;32363391;32366695;32488085;32518941;32676595;32897882;32938616;32958677;33298915;33310888;33592498;33717175;33912179;33968037;34117209;34162022;34171305;34357683;34428449;34528721;34599882;34932366;34961524;35051231;35132862;35251023;35561310;35580925;36010968;36215666;36241641;36284347;36635499;37938771;38838015;40307207;7986008", "class_list": "glycogene;glycosylhydrolase", "function": "A homozygous nonsense mutation in MAN1B1 segregated with nonsyndromic autosomal-recessive intellectual disability and additional dysmorphic features. Erratum:[Am J Hum Genet. 2011 Aug 12;89(2):348], [RefSeq, PubMed]; Hepatitis B virus X protein promotes MAN1B1 expression by enhancing stability of GRP78 via TRIM25 to facilitate hepatocarcinogenesis., [RefSeq, PubMed]; Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; MAN1B1-CDG: novel patients and novel variant. Publication Status: Online-Only, [RefSeq, PubMed]; The cytoplasmic tail of human mannosidase Man1b1 contributes to catalysis-independent quality control of misfolded alpha1-antitrypsin., [RefSeq, PubMed]; This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 21, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 22, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 22, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 1033, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "Q5VSG3;Q9BRS9;Q9Y5K7", "ec_number_list": [ { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.113", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.113", "type": "external" } ], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0019082 viral protein processing;GO:0009311 oligosaccharide metabolic process;GO:0036503 ERAD pathway;GO:1904380 endoplasmic reticulum mannose trimming;GO:0036510 trimming of terminal mannose on C branch", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q9UKM7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.100.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZMQ8-1", "uniprot_id": [ { "id": "LMTK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZMQ8", "type": "external" } ], "mass": 144569.0, "length": 1374, "protein_name": "Serine/threonine-protein kinase LMTK1", "gene_name": "AATK", "organism": "Human", "refseq_name": "serine/threonine-protein kinase LMTK1 isoform 1", "refseq_ac": [ { "id": "NP_001073864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073864", "type": "external" } ], "gene_names_uniprotkb": "AATK; AATYK; KIAA0641; LMR1; LMTK1", "gene_names_refseq": "AATK; AATYK1; AATYK; LMR1; LMTK1; PPP1R77; p35BP", "protein_names_uniprotkb": "Serine/threonine-protein kinase LMTK1; 2.7.11.1; AATYK; Apoptosis-associated tyrosine kinase; Brain apoptosis-associated tyrosine kinase; CDK5-binding protein; Lemur tyrosine kinase 1; p35-binding protein; p35BP", "protein_names_refseq": "CDK5-binding protein; brain apoptosis-associated tyrosine kinase; lemur tyrosine kinase 1; p35-binding protein; protein phosphatase 1, regulatory subunit 77; serine/threonine-protein kinase LMTK1 isoform 1; serine/threonine-protein kinase LMTK1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9625)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10837911;11237011;14521924;17344846;18691334;20422042;20553326;23186163;32938616;34523681;35051231;35902728", "class_list": "", "function": "Epigenetically silenced apoptosis-associated tyrosine kinase (AATK) facilitates a decreased expression of Cyclin D1 and WEE1, phosphorylates TP53 and reduces cell proliferation in a kinase-dependent manner., [RefSeq, PubMed]; Lemur tail kinase 1 (LMTK1) regulates the endosomal localization of beta-secretase BACE1. Erratum:[J Biochem. 2022 Mar 31;171(4):467. doi: 10.1093/jb/mvab152. PMID: 35137094], [RefSeq, PubMed]; May be involved in neuronal differentiation., [UniProtKB, PubMed]; The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O75136;Q6ZN31;Q86X28", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0012505 endomembrane system;GO:0005737 cytoplasm", "go_biological_process": "GO:0051402 neuron apoptotic process;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6ZMQ8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDH3-1", "uniprot_id": [ { "id": "PEPL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDH3", "type": "external" } ], "mass": 55861.0, "length": 523, "protein_name": "Probable aminopeptidase NPEPL1", "gene_name": "NPEPL1", "organism": "Human", "refseq_name": "probable aminopeptidase NPEPL1 isoform 2", "refseq_ac": [ { "id": "NP_001191801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191801", "type": "external" } ], "gene_names_uniprotkb": "NPEPL1; KIAA1974", "gene_names_refseq": "NPEPL1; bA261P9.2", "protein_names_uniprotkb": "Probable aminopeptidase NPEPL1; 3.4.11.-; Aminopeptidase-like 1", "protein_names_refseq": "probable aminopeptidase NPEPL1 isoform 2; probable aminopeptidase NPEPL1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79716)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10.1101/2023.09.13.557529;11237011;20068231;23481700;24715725;25576301;25645385;26375851;27846572;27862975;27920218;28832583;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;31154438;31844290;31848261;32157095;32161166;32387766;32488085;32502341;33141586;33298915;33912179;33936100;34211107;35051231;36284347", "class_list": "", "function": "Probably catalyzes the removal of unsubstituted N-terminal amino acids from various peptides., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NGZ0;B4DMW7;B7ZBN0;E9PN47;G5EA34;Q53G37;Q5W083;Q8TF28;Q8WUI2;Q9H1T6;Q9HAI5", "ec_number_list": [], "go_molecular_function": "GO:0030145 manganese ion binding;GO:0070006 metalloaminopeptidase activity;GO:0008233 peptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q8NDH3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26599-3", "uniprot_id": [ { "id": "PTBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P26599", "type": "external" } ], "mass": 59633.0, "length": 557, "protein_name": "Polypyrimidine tract-binding protein 1", "gene_name": "PTBP1", "organism": "Human", "refseq_name": "polypyrimidine tract-binding protein 1 isoform a", "refseq_ac": [ { "id": "NP_002810", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002810", "type": "external" } ], "gene_names_uniprotkb": "PTBP1; PTB", "gene_names_refseq": "HNRNP-I; HNRNPI; HNRPI; PTB-1; PTB-T; PTB2; PTB3; PTB4; PTBP1; PTB; STADS; pPTB", "protein_names_uniprotkb": "Polypyrimidine tract-binding protein 1; 57 kDa RNA-binding protein PPTB-1; Heterogeneous nuclear ribonucleoprotein I; PTB; hnRNP I", "protein_names_refseq": "57 kDa RNA-binding protein PPTB-1; RNA-binding protein; heterogeneous nuclear ribonucleoprotein polypeptide I; hnRNP I; polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I); polypyrimidine tract-binding protein 1 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:5725); (R-HSA-6803529); (R-HSA-72163); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 6, "publication_count": 229, "publication_id_list": "10.1038/emboj.2013.79;10653975;10669729;10856256;10882114;10938105;10982855;11003644;11014198;11060040;11101529;11233976;11747608;11991638;12176931;12393912;12411573;12414731;12477934;12851456;1286667;14519844;14625303;14713954;14749727;14762106;14966131;15009664;15037765;15084397;15341728;15565158;15601847;16179478;16260624;16314458;16362043;16410617;1641332;16449636;16603716;16809785;17081983;17095540;17128255;17332742;17606899;17924679;17959601;18083107;18288197;18322460;18452278;18573884;18593880;18669648;18691976;1906035;1906036;19103666;19165350;19217410;19285943;19415658;19536130;19615748;19651622;20010808;20068231;20305658;20423332;20695905;20980672;21295486;21406692;21518792;21518806;21536652;21654843;2176635;21911577;21993680;22110043;22223895;22365833;22813749;22898188;22959432;22961380;22967762;23186163;23208419;23222130;23236153;23301498;23345524;23481700;23584533;23739916;23874216;24076191;24149845;24196718;24304693;24316715;24407421;24448447;24737827;24914973;24981863;25301780;25301781;25367160;25418920;25545659;25555158;2558966;25645385;25802875;26092250;26375851;26385511;26420826;26969736;27108190;27377154;27459055;27600516;27683217;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28502770;28514659;28781166;28832583;28834231;28911096;29186539;29242379;29274231;29301961;29331515;29351928;29360106;29361316;29393594;29508533;29632711;2963332;29786170;29789417;29902443;30139799;30257008;30315122;30315277;30379171;30397120;30524438;30538201;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31222486;31409651;31530632;31844290;31848261;31937595;31998317;32119511;32161166;32179686;32329775;32494006;32816001;33123756;33177556;33214551;33243851;33446560;34019948;34185709;34301950;34725712;34822310;35083852;35132862;35177536;35215846;35385551;35705054;36215666;36284347;37217939;3757028;37938771;38665916;38944174;38964733;39117866;39206910;40596516;40914422;8352591;8566756;8608946;9016565;9242493;9271388;9409616;9512519;9524131;9539711;9659921;9671485;9701291;9731529;9858549", "class_list": "", "function": "CircTOP1 targeted regulation of PTBP1 expression promotes the progression of coronary artery calcification., [RefSeq, PubMed]; M6A-modified lncRNA FAM83H-AS1 promotes colorectal cancer progression through PTBP1., [RefSeq, PubMed]; PTBP1-mediated repression of neuron-specific CDC42 splicing constitutes a genomic alteration-independent, developmentally conserved vulnerability in IDH-wildtype glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in pre-mRNA splicing and in the regulation of alternative splicing events. Activates exon skipping of its own pre-mRNA during muscle cell differentiation. Binds to the polypyrimidine tract of introns. May promote RNA looping when bound to two separate polypyrimidine tracts in the same pre-mRNA. May promote the binding of U2 snRNP to pre-mRNA. Cooperates with RAVER1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA. Represses the splicing of MAPT/Tau exon 10 (PubMed:15009664). Binds to polypyrimidine-rich controlling element (PCE) of CFTR and promotes exon skipping of CFTR exon 9, thereby antagonizing TIA1 and its role in exon inclusion of CFTR exon 9 (PubMed:14966131). Plays a role in the splicing of pyruvate kinase PKM by binding repressively to a polypyrimidine tract flanking PKM exon 9, inhibiting exon 9 inclusion and resulting in exon 10 inclusion and production of the PKM M2 isoform (PubMed:20010808). In case of infection by picornaviruses, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:21518806)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Splicing Factor PTBP1 Silencing Induces Apoptosis of Human Cervical Cancer Cells via PI3K/AKT Pathway and Autophagy., [RefSeq, PubMed]; This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q9BUQ0", "ec_number_list": [], "go_molecular_function": "GO:0036002 pre-mRNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008187 poly-pyrimidine tract binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0075522 IRES-dependent viral translational initiation;GO:0006397 mRNA processing;GO:0045665 negative regulation of neuron differentiation;GO:0008380 RNA splicing;GO:0048025 negative regulation of mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 24.2, "record_id": "P26599-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JA4-1", "uniprot_id": [ { "id": "M4A14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JA4", "type": "external" } ], "mass": 76580.0, "length": 679, "protein_name": "Membrane-spanning 4-domains subfamily A member 14", "gene_name": "MS4A14", "organism": "Human", "refseq_name": "membrane-spanning 4-domains subfamily A member 14 isoform 2", "refseq_ac": [ { "id": "NP_001073160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073160", "type": "external" } ], "gene_names_uniprotkb": "MS4A14; MS4A13; MS4A16", "gene_names_refseq": "MS4A14; MS4A16; NYD-SP21", "protein_names_uniprotkb": "Membrane-spanning 4-domains subfamily A member 14; Testis development protein NYD-SP21", "protein_names_refseq": "MS4A13 protein; membrane-spanning 4-domains subfamily A member 14 isoform 2; membrane-spanning 4-domains subfamily A member 14; membrane-spanning 4-domains, subfamily A, member 16; testes development-related NYD-SP21; testis development protein NYD-SP21", "tax_id": 9606, "disease": "", "pathway": " (hsa:84689)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;20237496;29557506;29956771;31844290;32488085", "class_list": "", "function": "Interaction analysis demonstrated that the following genotypes: MS4A14 DI+II, SLC2A DI+II and ABCB 5 CG+GG, were associated with a prothrombin time >/=12 sec and with Recurrent pregnancy loss (RPL) risk, [RefSeq, PubMed]; May be involved in signal transduction as a component of a multimeric receptor complex., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PJE3;Q2TVT5;Q3B7W3;Q86XH8;Q9NTC2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q96JA4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5U623-1", "uniprot_id": [ { "id": "MCAF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5U623", "type": "external" } ], "mass": 75764.0, "length": 682, "protein_name": "Activating transcription factor 7-interacting protein 2", "gene_name": "ATF7IP2", "organism": "Human", "refseq_name": "activating transcription factor 7-interacting protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001243089", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243089", "type": "external" } ], "gene_names_uniprotkb": "ATF7IP2; MCAF2", "gene_names_refseq": "ATF7IP2; MCAF2", "protein_names_uniprotkb": "Activating transcription factor 7-interacting protein 2; ATF7-interacting protein 2; MBD1-containing chromatin-associated factor 2", "protein_names_refseq": "ATF7-interacting protein 2; MBD1-containing chromatin associated factor 2; activating transcription factor 7-interacting protein 2 isoform 2", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:80063)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15691849;19413330;19651622;23186163;24715725;25576301;26811146;27600516;27846572;27920218;28832583;28904123;29242379;29557506;30379171;30429286;30524438;31844290;32357974;32387766;32488085;32938616;33981976;34509645;34932366;35051231;35580925;39894887", "class_list": "", "function": "Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1. The complex formed with MBD1 and SETDB1 represses transcription and probably couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3) activity (Probable)., [UniProtKB]; These data suggest that MBD1.MCAF1.SETDB1 complex facilitates the formation of heterochromatic domains, emphasizing the role of MCAF/AM family proteins in epigenetic control, and describe a new family member, MCAF2 (ATF7IP2)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RNR2;Q53EZ7;Q658U2;Q6IS97;Q8N9X8;Q9H9L6", "ec_number_list": [], "go_molecular_function": "GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q5U623-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UEW3-1", "uniprot_id": [ { "id": "MARCO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UEW3", "type": "external" } ], "mass": 52658.0, "length": 520, "protein_name": "Macrophage receptor MARCO", "gene_name": "MARCO", "organism": "Human", "refseq_name": "macrophage receptor MARCO", "refseq_ac": [ { "id": "NP_006761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006761", "type": "external" } ], "gene_names_uniprotkb": "MARCO; SCARA2", "gene_names_refseq": "MARCO; SCARA2; SR-A6", "protein_names_uniprotkb": "Macrophage receptor MARCO; Macrophage receptor with collagenous structure; Scavenger receptor class A member 2", "protein_names_refseq": "macrophage receptor MARCO; scavenger receptor class A, member 2", "tax_id": 9606, "disease": "meningococcal meningitis (Disease Ontology:DOID:0080176); silicosis (Disease Ontology:DOID:10325); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); pulmonary tuberculosis (Disease Ontology:DOID:2957)", "pathway": " (hsa:8685); (R-HSA-3000480)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10224290;10331948;10651831;10686426;10722588;11237011;11564734;11820786;12488451;12761161;12763022;12847263;1339697;14609958;16237101;16335952;16525990;16882874;16926412;16984918;17179669;17332894;17709607;1852209;19073604;19159218;19227971;19911804;20360967;20810988;20849212;20888598;20956340;21782039;2251254;22570530;23090970;2318890;23197261;29391424;29557506;33968037;34011400;34398403;34626585;3467373;35051231;35364781;35580925;36010968;37212598;37217939;6088540;6255257;7607209;8127896;8429030;8751442;8784195;9225214;9465098;9468508;9511720;9548586", "class_list": "", "function": "Association of the MARCO polymorphism rs6761637 with hepatocellular carcinoma susceptibility and clinical characteristics., [RefSeq, PubMed]; Cancer Cells Promote Immune Regulatory Function of Macrophages by Upregulating Scavenger Receptor MARCO Expression., [RefSeq, PubMed]; Pattern recognition receptor (PRR) which binds Gram-positive and Gram-negative bacteria (PubMed:9468508). Also plays a role in binding of unopsonized particles by alveolar macrophages (By similarity). Binds to the secretoglobin SCGB3A2 (PubMed:12847263)., [UniProtKB, PubMed, UniProtKB, PubMed]; Scavenger receptor MARCO contributes to macrophage phagocytosis and clearance of tumor cells., [RefSeq, PubMed]; Single-cell characterization of macrophages in glioblastoma reveals MARCO as a mesenchymal pro-tumor marker. Publication Status: Online-Only, [RefSeq, PubMed]; TLR2 Potentiates SR-Marco-Mediated Neuroinflammation by Interacting with the SRCR Domain., [RefSeq, PubMed]; The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DW79;Q9Y5S3", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0001540 amyloid-beta binding;GO:0001664 G protein-coupled receptor binding;GO:0038187 pattern recognition receptor activity;GO:0038024 cargo receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030666 endocytic vesicle membrane", "go_biological_process": "GO:0006911 phagocytosis, engulfment;GO:0007166 cell surface receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0030198 extracellular matrix organization;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9UEW3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5T2-1", "uniprot_id": [ { "id": "TBC19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5T2", "type": "external" } ], "mass": 60208.0, "length": 526, "protein_name": "TBC1 domain family member 19", "gene_name": "TBC1D19", "organism": "Human", "refseq_name": "TBC1 domain family member 19 isoform 2", "refseq_ac": [ { "id": "NP_001278983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278983", "type": "external" } ], "gene_names_uniprotkb": "TBC1D19", "gene_names_refseq": "TBC1D19", "protein_names_uniprotkb": "TBC1 domain family member 19", "protein_names_refseq": "TBC1 domain family member 19 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55296)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;19077034;25892735;28228285;28514659;29242379;29557506;29769354;30429286;30524438;30833945;31844290;32157095;32938616;33298915;33717175;33936100;33968037;35051231;35494241;36010968;38253038", "class_list": "", "function": "May act as a GTPase-activating protein for Rab family protein(s)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9A6M0;Q9NUX1", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8N5T2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N807-1", "uniprot_id": [ { "id": "PDILT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N807", "type": "external" } ], "mass": 66657.0, "length": 584, "protein_name": "Protein disulfide-isomerase-like protein of the testis", "gene_name": "PDILT", "organism": "Human", "refseq_name": "protein disulfide-isomerase-like protein of the testis precursor", "refseq_ac": [ { "id": "NP_777584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777584", "type": "external" } ], "gene_names_uniprotkb": "PDILT", "gene_names_refseq": "PDIA7; PDILT", "protein_names_uniprotkb": "Protein disulfide-isomerase-like protein of the testis", "protein_names_refseq": "protein disulfide isomerase family A, member 7; protein disulfide-isomerase-like protein of the testis precursor; protein disulfide-isomerase-like protein of the testis", "tax_id": 9606, "disease": "", "pathway": " (hsa:204474)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;15475357;16959974;17507649;24662985;27543614;29203529;32938616;35051231", "class_list": "", "function": "Further studies of this recently discovered PDI member would help to understand the important role that PDILT plays in the differentiation and maturation of spermatozoids. Publication Status: Online-Only, [RefSeq, PubMed]; Indings have identified the critical regions and conformational changes of PDILT that enable and control its activity. These results advance our understanding of the structural mechanisms involved in the chaperone activity of PDILT., [RefSeq, PubMed]; Probable redox-inactive chaperone involved in spermatogenesis., [UniProtKB, PubMed]; The expression of PDILT, in addition to PDI in the testis, suggests that PDILT performs a specialized chaperone function in testicular cells., [RefSeq, PubMed]; This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene's expression appears to be limited to the testis. [provided by RefSeq, Dec 2016]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q8IVQ5", "ec_number_list": [], "go_molecular_function": "GO:0003756 protein disulfide isomerase activity;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8N807-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCQ1-1", "uniprot_id": [ { "id": "MARH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCQ1", "type": "external" } ], "mass": 32308.0, "length": 289, "protein_name": "E3 ubiquitin-protein ligase MARCHF1", "gene_name": "MARCHF1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase MARCHF1 isoform 1", "refseq_ac": [ { "id": "NP_001159845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159845", "type": "external" } ], "gene_names_uniprotkb": "MARCHF1; MARCH1; RNF171", "gene_names_refseq": "MARCH-I; MARCH1; MARCHF1; RNF171", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase MARCHF1; 2.3.2.27; MARCH-I; Membrane-associated RING finger protein 1; Membrane-associated RING-CH protein I; RING finger protein 171; RING-type E3 ubiquitin transferase MARCHF1", "protein_names_refseq": "E3 ubiquitin-protein ligase MARCH1; E3 ubiquitin-protein ligase MARCHF1 isoform 1; E3 ubiquitin-protein ligase MARCHF1; RING finger protein 171; RING-type E3 ubiquitin transferase MARCH1; RING-type E3 ubiquitin transferase MARCHF1; membrane associated ring finger 1; membrane-associated RING finger protein 1; membrane-associated RING-CH protein I; membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "", "pathway": " (hsa:55016)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;14722266;17255932;18305173;18389477;19117940;21220452;27577745;29351928;29393594;29414787;32157095;32983136;33123756;35045264;35122633;35580925;38299743;38331309;39061024", "class_list": "", "function": "(Microbial infection) Plays a role in iron metabolism by regulating the levels of the transferrin receptor TFRC during human cytomegalovirus infection, subsequently contributing to a proviral effect., [UniProtKB, PubMed]; E3 ubiquitin-protein ligase that mediates ubiquitination of TFRC, CD86, FAS and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies (PubMed:18389477, PubMed:18305173, PubMed:21220452, PubMed:35045264). By constitutively ubiquitinating MHC class II proteins in immature dendritic cells, down-regulates their cell surface localization thus sequestering them in the intracellular endosomal system. Also regulates insulin sensitivity by controlling surface expression of the insulin receptor subunit beta/INSR by direct ubiquitination and degradation (PubMed:27577745)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Human MARCH1, 2, and 8 block Ebola virus envelope glycoprotein cleavage via targeting furin P domain., [RefSeq, PubMed]; MARCH I is a major regulator of HLA-DR traffic, and its loss contributes to the acquisition of the potent immunostimulatory properties of mature human DCs., [RefSeq, PubMed]; MARCH-I: A negative regulator of dendritic cell maturation., [RefSeq, PubMed]; MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]., [RefSeq]; MARCH1 negatively regulates TBK1-mTOR signaling pathway by ubiquitinating TBK1. Publication Status: Online-Only, [RefSeq, PubMed]; MARCH1 silencing suppresses growth of oral squamous cell carcinoma through regulation of PHLPP2., [RefSeq, PubMed]; The Immune-Specific E3 Ubiquitin Ligase MARCH1 Is Upregulated during Human Cytomegalovirus Infection to Regulate Iron Levels., [RefSeq, PubMed]; The immunosuppressive effect of IL-10 on antigen presentation is mediated through induced expression of MARCH1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DP29;Q9NWR0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0042287 MHC protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0032588 trans-Golgi network membrane;GO:0005764 lysosome", "go_biological_process": "GO:0006955 immune response;GO:0000209 protein polyubiquitination;GO:0002495 antigen processing and presentation of peptide antigen via MHC class II;GO:0016567 protein ubiquitination;GO:0002376 immune system process", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8TCQ1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95263-1", "uniprot_id": [ { "id": "PDE8B_HUMAN", "url": "https://www.uniprot.org/uniprot/O95263", "type": "external" } ], "mass": 98979.0, "length": 885, "protein_name": "High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B", "gene_name": "PDE8B", "organism": "Human", "refseq_name": "high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 3", "refseq_ac": [ { "id": "NP_001025022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025022", "type": "external" } ], "gene_names_uniprotkb": "PDE8B; PIG22", "gene_names_refseq": "ADSD; PDE8B; PPNAD3", "protein_names_uniprotkb": "High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B; 3.1.4.53; Cell proliferation-inducing gene 22 protein; HsPDE8B", "protein_names_refseq": "3',5' cyclic nucleotide phosphodiesterase 8B; cell proliferation-inducing gene 22 protein; high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 3; high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B", "tax_id": 9606, "disease": "primary pigmented nodular adrenocortical disease 3 (Disease Ontology:DOID:0070548); striatonigral degeneration (Disease Ontology:DOID:4751)", "pathway": " (hsa:8622); (R-HSA-418555)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "11007482;11237011;12036966;12058044;12106601;12180353;12372422;12681444;12860470;12895443;13549488;14671004;15144186;1517224;15765929;15769620;15951850;16313925;16687412;16923326;17168849;18044684;18431404;18577758;18669648;18691976;19105585;19876791;19929708;20068231;20085714;20381629;21036126;2163110;23186163;2417744;24687066;2491850;2553411;2553705;25645385;26417854;28121444;2871555;28727628;28832583;29393594;29443750;29557506;29602314;29909144;30429286;30833991;31154438;3127824;31279028;31399091;31726290;31844290;31848261;31983287;32157095;32161166;32226383;32497535;32540603;32618402;32715661;33049737;33912179;35051231;35494241;35580925;36241641;36277728;36284347;38989284;6085243;8340388;8514797;8672451;9263355;9417641;9651336;9784418", "class_list": "", "function": "CAMP-specific phosphodiesterase 8A and 8B isoforms are differentially expressed in human testis and Leydig cell tumor. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical findings of autosomal-dominant striatal degeneration and PDE8B mutation screening in parkinsonism and related disorders., [RefSeq, PubMed]; Comparison of enzymatic characterization and gene organization of PDE8B and PDE8A., [RefSeq, PubMed]; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in specific signaling in the thyroid gland., [UniProtKB]; In Alzheimer's disease brains we found that PDE8B was the only PDE isozyme showing a significant increase, in cortical areas and parts of the hippocampal formation, at Braak stages III-VI, [RefSeq, PubMed]; Replication confirmed at genome-wide significance the association of loci at FOXE1 with hypothyroidism, and PDE8B, CAPZB and PDE10A with serum TSH. A total of 12 SNPs seemed to explain nearly 7% of the serum TSH variation, [RefSeq, PubMed]; Selective usage of exons produces three different PDE8B variants that exhibit a tissue-specific expression pattern, [RefSeq, PubMed]; Single-cell transcriptomic analysis identifies downregulated phosphodiesterase 8B as a novel oncogene in IDH-mutant glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Study shows that PDE8B may not play a major role in familial and early-onset Parkinson disease without distinctive lesions of the striatum on brain MRI in this Taiwanese population., [RefSeq, PubMed]; The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5J7V7;Q86XK8;Q8IUJ7;Q8IUJ8;Q8IUJ9;Q8IUK0;Q8N3T2", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.17", "type": "external" }, { "id": "3.1.4.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.53", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.6.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.25", "type": "external" }, { "id": "3.6.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.14", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity;GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0061179 negative regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0006198 cAMP catabolic process;GO:0141162 negative regulation of cAMP/PKA signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "O95263-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19237-1", "uniprot_id": [ { "id": "TNNI1_HUMAN", "url": "https://www.uniprot.org/uniprot/P19237", "type": "external" } ], "mass": 21692.0, "length": 187, "protein_name": "Troponin I, slow skeletal muscle", "gene_name": "TNNI1", "organism": "Human", "refseq_name": "troponin I, slow skeletal muscle", "refseq_ac": [ { "id": "NP_003272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003272", "type": "external" } ], "gene_names_uniprotkb": "TNNI1", "gene_names_refseq": "SSTNI; TNN1; TNNI1", "protein_names_uniprotkb": "Troponin I, slow skeletal muscle; Troponin I, slow-twitch isoform", "protein_names_refseq": "troponin I type 1 (skeletal, slow); troponin I, slow skeletal muscle", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); heart disease (Disease Ontology:DOID:114); dilated cardiomyopathy (Disease Ontology:DOID:12930); adenocarcinoma (Disease Ontology:DOID:299)", "pathway": " (hsa:7135); (R-HSA-390522)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10747208;11237011;21209280;22544926;23481700;2365354;26154972;27862975;29508533;29557506;31154438;31217245;31937595;31998317;32539541;33158499;33683712;35561310;35580925;38569017;8144655", "class_list": "", "function": "Cardiac Troponin I Is an Independent Predictor for Mortality in Hospitalized Patients With COVID-19., [RefSeq, PubMed]; Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy., [RefSeq, PubMed]; Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease., [RefSeq, PubMed]; Postoperative troponin increases after noncardiac surgery are associated with raised neurofilament light: a prospective observational cohort study., [RefSeq, PubMed]; Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Troponin proteins associate with tropomyosin and regulate the calcium sensitivity of the myofibril contractile apparatus of striated muscles. Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. The TnI-fast and TnI-slow genes are expressed in fast-twitch and slow-twitch skeletal muscle fibers, respectively, while the TnI-cardiac gene is expressed exclusively in cardiac muscle tissue. This gene encodes the Troponin-I-skeletal-slow-twitch protein. This gene is expressed in cardiac and skeletal muscle during early development but is restricted to slow-twitch skeletal muscle fibers in adults. The encoded protein prevents muscle contraction by inhibiting calcium-mediated conformational changes in actin-myosin complexes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NEH3;A8MSJ0;Q659A5;Q6FGS7;Q6FGW1;Q6ICU2;Q86T57;Q96DT9", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005861 troponin complex", "go_biological_process": "GO:0003009 skeletal muscle contraction;GO:0060048 cardiac muscle contraction;GO:0006942 regulation of striated muscle contraction", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P19237-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NDB9-1", "uniprot_id": [ { "id": "PALM3_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NDB9", "type": "external" } ], "mass": 71695.0, "length": 673, "protein_name": "Paralemmin-3", "gene_name": "PALM3", "organism": "Human", "refseq_name": "paralemmin-3 isoform 1", "refseq_ac": [ { "id": "NP_001138500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138500", "type": "external" } ], "gene_names_uniprotkb": "PALM3", "gene_names_refseq": "PALM3", "protein_names_uniprotkb": "Paralemmin-3", "protein_names_refseq": "paralemmin-3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:342979)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;17525332;21187075;21406692;23186163;24275569;25892735;32357974;35051231", "class_list": "", "function": "ATP-binding protein, which may act as a adapter in the Toll-like receptor (TLR) signaling., [UniProtKB, PubMed]; These results suggest that PALM3 may function as an adaptor in the LPS- Toll-like receptor 4 signaling and the interaction of SIGIRR with PALM3 may partly account for the mechanism of the negatively regulatory effect of SIGIRR., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0001960 negative regulation of cytokine-mediated signaling pathway;GO:0032496 response to lipopolysaccharide;GO:0008360 regulation of cell shape;GO:0008063 Toll signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A6NDB9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00765-1", "uniprot_id": [ { "id": "REEP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00765", "type": "external" } ], "mass": 21493.0, "length": 189, "protein_name": "Receptor expression-enhancing protein 5", "gene_name": "REEP5", "organism": "Human", "refseq_name": "receptor expression-enhancing protein 5", "refseq_ac": [ { "id": "NP_005660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005660", "type": "external" } ], "gene_names_uniprotkb": "REEP5; C5orf18; DP1; TB2", "gene_names_refseq": "C5orf18; D5S346; DP1; POB16; REEP5; TB2; YOP1; Yip2e", "protein_names_uniprotkb": "Receptor expression-enhancing protein 5; Polyposis locus protein 1; Protein TB2", "protein_names_refseq": "deleted in polyposis 1; polyposis coli region hypothetical protein DP1; polyposis locus protein 1; receptor expression-enhancing protein 5", "tax_id": 9606, "disease": "hereditary spastic paraplegia 31 (Disease Ontology:DOID:0110782)", "pathway": " (hsa:7905)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;15550249;1651562;16720576;1678319;19608861;19665976;23969831;25418920;25576301;26811146;26992070;27452731;27920218;28063628;28228285;28411811;28467828;28855257;28904123;29242379;29314611;29393594;29557506;29632046;29769354;30573663;30617019;31154438;31217245;31530632;31844290;32075961;32157095;32387766;32983136;33043033;33141586;33968037;34171305;35580925;36241641;37768083;38665916", "class_list": "", "function": "Plays an essential role in heart function and development by regulating the organization and function of the sarcoplasmic reticulum in cardiomyocytes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The REEP5/TRAM1 complex binds SARS-CoV-2 NSP3 and promotes virus replication., [RefSeq, PubMed]; The sarco-endoplasmic reticulum (SR/ER) plays an important role in the development and progression of many heart diseases. Receptor accessory protein 5 (REEP5), a cardiac enriched, sarco-endoplasmic reticulum (SR/ER) membrane protein,is centrally involved in regulating SR/ER organization and cellular stress responses in cardiac myocytes. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z681;D3DT04;Q04198;Q5QGT0;Q9BWH9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0033017 sarcoplasmic reticulum membrane;GO:0071782 endoplasmic reticulum tubular network", "go_biological_process": "GO:0090158 endoplasmic reticulum membrane organization;GO:0007029 endoplasmic reticulum organization", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q00765-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43357-1", "uniprot_id": [ { "id": "MAGA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P43357", "type": "external" } ], "mass": 34747.0, "length": 314, "protein_name": "Melanoma-associated antigen 3", "gene_name": "MAGEA3", "organism": "Human", "refseq_name": "melanoma-associated antigen 3", "refseq_ac": [ { "id": "NP_005353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005353", "type": "external" } ], "gene_names_uniprotkb": "MAGEA3; MAGE3", "gene_names_refseq": "CT1.3; HIP8; HYPD; MAGE3; MAGEA3", "protein_names_uniprotkb": "Melanoma-associated antigen 3; Antigen MZ2-D; CT1.3; Cancer/testis antigen 1.3; MAGE-3 antigen", "protein_names_refseq": "MAGE-3 antigen; antigen MZ2-D; cancer/testis antigen 1.3; cancer/testis antigen family 1, member 3; melanoma antigen family A, 3; melanoma antigen family A3; melanoma-associated antigen 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:4102)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "10540322;10854409;11237011;11684128;12124806;15449035;17942928;20864041;24154794;24366607;24715725;24756419;24802712;24935722;25576301;25645385;25880248;25892735;26154972;26758806;26792804;27600516;27869121;27920218;28218747;28555838;28904123;29242379;29437277;29645087;29779948;29790264;30192525;30315122;30410026;30484775;30524438;30559321;30779550;30815394;30833945;31222486;31267705;31398327;31497249;31530632;31844290;32157095;32161166;32310221;32314731;32357974;32387766;32488085;32582212;32938616;33091337;33141586;33665637;33743542;33912179;33931137;33968037;33981976;34035112;34149689;34166362;34211107;34919442;35051231;35389803;35874702;36010968;36159589;36215666;36241641;36367777;36589698;36768214;37280206;37490916;37649599;37721693;38509571;38740147;38956325;39394480;8037761;8113684", "class_list": "", "function": "Activator of ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases that acts as a repressor of autophagy (PubMed:20864041, PubMed:31267705). May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex (PubMed:17942928, PubMed:20864041). May play a role in embryonal development and tumor transformation or aspects of tumor progression (PubMed:17942928, PubMed:20864041). In vitro promotes cell viability in melanoma cell lines (PubMed:17942928). Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes (PubMed:8113684)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Immunological and functional aspects of MAGEA3 cancer/testis antigen. Review article, [RefSeq, PubMed]; MAGE-A3 regulates tumor stemness in gastric cancer through the PI3K/AKT pathway., [RefSeq, PubMed]; Nuclear overexpression levels of MAGE-A3 predict poor prognosis in patients with prostate cancer., [RefSeq, PubMed]; This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptomic characterization of cancer-testis antigens identifies MAGEA3 as a driver of tumor progression in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6FHI6", "ec_number_list": [], "go_molecular_function": "GO:0042826 histone deacetylase binding;GO:0089720 caspase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0010507 negative regulation of autophagy;GO:1902236 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;GO:0010955 negative regulation of protein processing", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "P43357-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXT6-1", "uniprot_id": [ { "id": "M10L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXT6", "type": "external" } ], "mass": 135293.0, "length": 1211, "protein_name": "RNA helicase Mov10l1", "gene_name": "MOV10L1", "organism": "Human", "refseq_name": "RNA helicase Mov10l1 isoform 3", "refseq_ac": [ { "id": "NP_001157577", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157577", "type": "external" } ], "gene_names_uniprotkb": "MOV10L1", "gene_names_refseq": "CHAMP; DJ402G11.8; MOV10L1; SPGF73", "protein_names_uniprotkb": "RNA helicase Mov10l1; 5.6.2.5; MOV10-like protein 1; Moloney leukemia virus 10-like protein 1; RNA 5'-3' helicase Mov10l1", "protein_names_refseq": "MOV10-like protein 1; Mov10 RISC complex RNA helicase like 1; Mov10 like RISC complex RNA helicase 1; Mov10-like 1; Mov10l1, Moloney leukemia virus 10-like 1, homolog; RNA helicase Mov10l1 isoform 3; RNA helicase Mov10l1; cardiac helicase activated by MEF2C protein; moloney leukemia virus 10-like protein 1; putative helicase Mov10l1", "tax_id": 9606, "disease": "spermatogenic failure 73 (Disease Ontology:DOID:0070572); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:54456); (R-HSA-5601884)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "11237011;11279525;18477386;18507432;18922463;21465557;22233380;23056369;23826142;23980886;24656595;24817005;29351928;29557506;32161166;32938616;32983136;35051231;35476666", "class_list": "", "function": "ATP-dependent 5'-3' RNA helicase required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the primary piRNA metabolic process. Specifically binds to piRNA precursors and promotes the generation of intermediate piRNA processing fragments that are subsequently loaded to Piwi proteins. Acts via its ATP-dependent RNA helicase activity: displays 5'-3' RNA unwinding activity and probably mediates unwinding and funneling of single-stranded piRNA precursor transcripts to the endonuclease that catalyzes the first cleavage step of piRNA processing to generate piRNA intermediate fragments that are subsequently loaded to Piwi proteins., [UniProtKB, UniProtKB]; Our results suggest that MOV10L1 gene polymorphisms in the studied infertile males with complete maturation arrest are linked to infertility., [RefSeq, PubMed]; This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A7E211;A8MXC6;B7WPP1;B7Z7R1;F5H403;Q5TGD5;Q8NBD4;Q9NXW3;Q9UFB3;Q9UGX9", "ec_number_list": [ { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.1.1.386", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.386", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003724 RNA helicase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0071546 pi-body;GO:0043186 P granule;GO:0005737 cytoplasm", "go_biological_process": "GO:0007283 spermatogenesis;GO:0007281 germ cell development;GO:0035194 regulatory ncRNA-mediated post-transcriptional gene silencing;GO:0034587 piRNA processing;GO:0007141 male meiosis I", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9BXT6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52298-1", "uniprot_id": [ { "id": "NCBP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P52298", "type": "external" } ], "mass": 18001.0, "length": 156, "protein_name": "Nuclear cap-binding protein subunit 2", "gene_name": "NCBP2", "organism": "Human", "refseq_name": "nuclear cap-binding protein subunit 2 isoform 2", "refseq_ac": [ { "id": "NP_001036005", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036005", "type": "external" } ], "gene_names_uniprotkb": "NCBP2; CBP20; PIG55", "gene_names_refseq": "CBC2; CBP20; NCBP2; NIP1; PIG55", "protein_names_uniprotkb": "Nuclear cap-binding protein subunit 2; 20 kDa nuclear cap-binding protein; CBP20; Cell proliferation-inducing gene 55 protein; NCBP 20 kDa subunit; NCBP-interacting protein 1; NIP1", "protein_names_refseq": "20 kDa nuclear cap-binding protein; NCBP 20 kDa subunit; NCBP interacting protein 1; cell proliferation-inducing gene 55 protein; nuclear cap binding protein subunit 2, 20kDa; nuclear cap binding protein subunit 2, 20kD; nuclear cap-binding protein subunit 2 isoform 2", "tax_id": 9606, "disease": "chromosome 3q29 microdeletion syndrome (Disease Ontology:DOID:0060419)", "pathway": " (hsa:22916); (R-HSA-111367); (R-HSA-112382); (R-HSA-113418); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-167152); (R-HSA-167158); (R-HSA-167200); (R-HSA-167242); (R-HSA-191859); (R-HSA-674695); (R-HSA-6803529); (R-HSA-6807505); (R-HSA-72086); (R-HSA-72163); (R-HSA-72165); (R-HSA-72187); (R-HSA-72203); (R-HSA-73856); (R-HSA-77588); (R-HSA-77595); (R-HSA-8851708); (R-HSA-9010553); (R-HSA-975956); (R-HSA-975957); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9930044)", "pathway_count": 31, "publication_count": 420, "publication_id_list": "10022900;10199401;10207048;10228171;10323864;10489353;10531003;10556282;10601333;10668806;10669729;10725331;10757782;10851237;10866664;10882114;10916156;10938105;10982855;11014198;11060040;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11331269;11333016;11333026;11466336;11532962;11544179;11545740;11546874;11551508;11579093;11607023;11714716;11739738;11747608;11748230;11756420;11856838;11859374;11884399;11979277;11991638;12003494;12065586;12093754;12095920;12176931;12370301;12374755;12393912;12411573;12414730;12414731;12417715;12434151;12441251;12477934;12554878;12574128;12653964;12676794;12718880;12776181;12832468;12871933;14519844;14527413;14625303;14636577;14701750;14701755;14713954;14742663;14749727;14762106;14973490;15034551;15037765;15084397;15120988;1535687;15361857;15489290;15546618;15565158;15601847;15721257;15989964;15998806;16186820;16209946;16239144;16284618;16308568;16314397;16314458;16410617;16449636;16452507;16601204;16603716;16622410;16809785;16901896;17000901;17053788;17095540;17128255;17174896;17190602;17234882;17317185;17332742;17352659;17363367;17363904;1739980;17412707;17499042;17525332;17606899;17803942;17873884;17893241;17940139;17959601;17984224;18066079;18079403;18157150;18230761;18256688;18288197;1829677;18322460;18364396;18369367;18411249;18423201;18423202;18447580;18447585;18524595;18573884;18593880;18657639;18957205;18974281;19052544;1906035;19060897;19103666;19150429;19165350;19217410;19285943;19359157;1939271;19417104;19478851;19494120;19503078;19536130;19556969;19632182;19667075;19706539;19729311;19836239;19859661;19909264;19941815;19952111;20023408;20068231;20129943;20159561;2017161;20423332;20457598;20479275;20573985;20630994;20691628;20695905;20817927;20844015;20930030;20980672;21029861;21145460;2125285;21295486;21355848;21419344;21536652;21705430;2176635;21855801;21911577;21947206;22110043;22137580;22207203;22231121;22252320;22365833;22441827;22732409;22813749;22893130;22928037;22959432;22961380;22982363;23085078;23166507;23186163;23217742;23222130;23234702;23236153;23299939;23345524;23538671;23582887;23746841;23783831;23804756;23826332;23874216;23932780;24076191;24097444;24129315;24149845;24196718;24244187;24270878;24304693;24316715;24354960;24407421;24448447;2449431;24715725;24737827;24914973;24981863;24997600;25242263;2524422;25301780;25301781;25418920;25555158;25576301;25578728;2558966;25645385;25662211;25675981;25836925;25880248;26092250;26382858;26385511;26420826;26659056;26811146;26969736;26992070;27108190;27377154;27434818;27459055;27510544;27600516;27683217;27862975;27871484;28062851;28076346;28096519;28228285;2825027;28297668;28502770;28510447;28781166;28832583;28904123;28911096;29186539;29242379;29274231;29298432;29301961;29331515;29360106;29361316;29393594;2944599;29493099;29557506;2963332;29786170;29789417;29902443;29906447;30139799;30257008;30315122;30315277;30379171;30599162;30705154;30728453;30765414;30779550;30975767;31222486;31409651;31530632;31844290;31848261;31950173;32157095;32161166;32179686;32329775;32357974;32494006;32816001;32897882;32960270;32983136;33177556;33243851;33446560;33592498;33691108;33767452;33912179;33913806;33981976;34087483;34171305;34301950;34357683;34561969;34564892;34822310;34932366;35051231;35177536;35215846;35318648;35385551;35580925;36284347;37067401;3757028;37875486;37938771;38665916;7478990;7651522;7660122;7660129;7660130;7715707;7853496;8196654;8253082;8339931;8352591;8370526;8566756;8601613;8608946;8628262;8668525;8835860;9009278;9016565;9049306;9111328;9153304;9188510;9242493;9271388;9407024;9409616;9450929;9489704;9512519;9512541;9524131;9539711;9618489;9659921;9660949;9671485;9701291;9705341;9731529;9765293;9790902;9832505;9845364;9857195;9858549", "class_list": "", "function": "Affinity proteomic dissection of the human nuclear cap-binding complex interactome., [RefSeq, PubMed]; Component of the cap-binding complex (CBC), which binds co-transcriptionally to the 5' cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense-mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus, leading to the recruitment of the mRNA export machinery to the 5' end of mRNA and to mRNA export in a 5' to 3' direction through the nuclear pore. The CBC complex is also involved in mediating U snRNA and intronless mRNAs export from the nucleus. The CBC complex is essential for a pioneer round of mRNA translation, before steady state translation when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. The pioneer round of mRNA translation mediated by the CBC complex plays a central role in nonsense-mediated mRNA decay (NMD), NMD only taking place in mRNAs bound to the CBC complex, but not on eIF4E-bound mRNAs. The CBC complex enhances NMD in mRNAs containing at least one exon-junction complex (EJC), promoting the interaction between upf1 and upf2. The CBC complex is also involved in 'failsafe' NMD, which is independent of the EJC complex, while it does not participate in Staufen-mediated mRNA decay (SMD). During cell proliferation, the CBC complex is also involved in microRNAs (miRNAs) biogenesis via its interaction with srrt/ars2, thereby being required for miRNA-mediated RNA interference. The CBC complex also acts as a negative regulator of parn, thereby acting as an inhibitor of mRNA deadenylation. In the CBC complex, ncbp2/cbp20 recognizes and binds capped RNAs (m7GpppG-capped RNA) but requires ncbp1/cbp80 to stabilize the movement of its N-terminal loop and lock the CBC into a high affinity cap-binding state with the cap structure. The conventional cap-binding complex with NCBP2 binds both small nuclear RNA (snRNA) and messenger (mRNA) and is involved in their export from the nucleus., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; M7G-related genes-NCBP2 and EIF4E3 determine immune contexture in head and neck squamous cell carcinoma by regulating CCL4/CCL5 expression., [RefSeq, PubMed]; The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RE91;B4DMK7;E9PAR5;Q14924;Q2TS50", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0000340 RNA 7-methylguanosine cap binding;GO:0017069 snRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005846 nuclear cap binding complex", "go_biological_process": "GO:0016071 mRNA metabolic process;GO:0046833 positive regulation of RNA export from nucleus;GO:0006406 mRNA export from nucleus;GO:0008380 RNA splicing;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "synthesized_glycan_count": 0, "hit_score": 42.3, "record_id": "P52298-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01064-1", "uniprot_id": [ { "id": "PDE1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01064", "type": "external" } ], "mass": 61380.0, "length": 536, "protein_name": "Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B", "gene_name": "PDE1B", "organism": "Human", "refseq_name": "dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B isoform 1", "refseq_ac": [ { "id": "NP_000915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000915", "type": "external" } ], "gene_names_uniprotkb": "PDE1B; PDES1B", "gene_names_refseq": "HEL-S-79p; PDE1B1; PDE1B; PDES1B", "protein_names_uniprotkb": "Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B; 3.1.4.17; 63 kDa Cam-PDE; Cam-PDE 1B", "protein_names_refseq": "63 kDa Cam-PDE; calcium/calmodulin-stimulated cyclic nucleotide phosphodiesterase; calmodulin-stimulated phosphodiesterase PDE1B1; cam-PDE 1B; dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B isoform 1; dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B; epididymis secretory sperm binding protein Li 79p; phosphodiesterase 1B, calmodulin-dependent; presumed 63kDa form of the type 1 cyclic nucleotide phosphodiesterase family known as PDE1B", "tax_id": 9606, "disease": "Parkinsonism (Disease Ontology:DOID:0080855)", "pathway": " (hsa:5153); (R-HSA-111957); (R-HSA-418457); (R-HSA-418555)", "pathway_count": 4, "publication_count": 70, "publication_id_list": "11007482;11237011;11747989;12036966;12058044;12106601;12180353;12860470;1326532;13549488;14671004;1517224;15260978;15272012;15345747;15765929;15769620;15951850;16313925;16687412;16923326;16990611;17168849;17726023;18044684;18335582;18577758;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24687066;2491850;2553411;2553705;26417854;28282490;2871555;29443750;29557506;29602314;30429286;30833991;31154438;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;34087483;35051231;36284347;6085243;8340388;8514797;8557689;8672451;8855339;9263355;9417641;9419816;9651336", "class_list": "", "function": "Cyclic nucleotide phosphodiesterase with a dual specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:15260978, PubMed:8855339, PubMed:9419816). Has a preference for cGMP as a substrate (PubMed:9419816)., [UniProtKB, PubMed, PubMed, PubMed]; The c.1618G>A, p.Gly540Ser substitution in CNGA3 was identified as the causative mutation for a novel form of ACHM in Awassi sheep. Gene augmentation therapy restored vision in the affected sheep. This novel mutation provides a large-animal model that is valid for most human CNGA3 ACHM patients; the majority of them carry missense rather than premature-termination mutations., [RefSeq, PubMed]; The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q92825;Q96KP3", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.17", "type": "external" }, { "id": "3.1.4.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.53", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.6.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.25", "type": "external" }, { "id": "3.6.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.14", "type": "external" } ], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0046872 metal ion binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity;GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity;GO:0004117 calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0043025 neuronal cell body", "go_biological_process": "GO:0007165 signal transduction;GO:0097011 cellular response to granulocyte macrophage colony-stimulating factor stimulus;GO:0030224 monocyte differentiation;GO:0036006 cellular response to macrophage colony-stimulating factor stimulus;GO:0141162 negative regulation of cAMP/PKA signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q01064-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05BQ5-1", "uniprot_id": [ { "id": "MBTD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05BQ5", "type": "external" } ], "mass": 70547.0, "length": 628, "protein_name": "MBT domain-containing protein 1", "gene_name": "MBTD1", "organism": "Human", "refseq_name": "MBT domain-containing protein 1", "refseq_ac": [ { "id": "NP_060113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060113", "type": "external" } ], "gene_names_uniprotkb": "MBTD1", "gene_names_refseq": "MBTD1; SA49P01", "protein_names_uniprotkb": "MBT domain-containing protein 1", "protein_names_refseq": "MBT domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54799)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;18491316;19841675;23915195;23959973;24714562;25576301;26608508;26992070;27153538;28228285;28834231;28904123;29557506;30315122;31844290;32157095;32161166;32209463;32237188;32357974;33298915;33594072;33912179;35051231;35705031;36010968;36241641;36434485", "class_list": "", "function": "A novel MBTD1-PHF1 gene fusion in endometrial stromal sarcoma: A case report and literature review. Review article, [RefSeq, PubMed]; Chromatin reader component of the NuA4 histone acetyltransferase complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (PubMed:27153538, PubMed:32209463). The NuA4 complex plays a direct role in repair of DNA double-strand breaks (DSBs) by promoting homologous recombination (HR) (PubMed:27153538). MBTD1 specifically recognizes and binds monomethylated and dimethylated 'Lys-20' on histone H4 (H4K20me1 and H4K20me2, respectively) (PubMed:19841675, PubMed:27153538, PubMed:32209463). In the NuA4 complex, MBTD1 promotes recruitment of the complex to H4K20me marks by competing with TP53BP1 for binding to H4K20me (PubMed:27153538). Following recruitment to H4K20me at DNA breaks, the NuA4 complex catalyzes acetylation of 'Lys-15' on histone H2A (H2AK15), blocking the ubiquitination mark required for TP53BP1 localization at DNA breaks, thereby promoting homologous recombination (HR) (PubMed:27153538)., [UniProtKB, PubMed, PubMed, PubMed]; In this study, we show that this translocation results in an in-frame translocation fusing exon 12 of the tumor suppressor gene ZMYND11 to exon 3 of the chromatin protein MBTD1, encoding a protein of 1,054 amino acids, [RefSeq, PubMed]; Long Non-coding RNA H19 Recruits NFYB to Activate MBTD1 and Regulate Doxorubicin Resistance in Lymphoma Cells., [RefSeq, PubMed]; Oncogenic ZMYND11-MBTD1 fusion protein anchors the NuA4/TIP60 histone acetyltransferase complex to the coding region of active genes., [RefSeq, PubMed]; Structural Basis for EPC1-Mediated Recruitment of MBTD1 into the NuA4/TIP60 Acetyltransferase Complex., [RefSeq, PubMed]; Structural analysis of a four-MBT repeat protein MBTD1 Publication Status: Online-Only, [RefSeq, PubMed]; The chimeric MBTD1-CXorf67 fusion identifies yet another cytogenetically distinct subgroup of low-grade Endometrial stromal sarcomas and offers the opportunity to shed light on the functions of two poorly characterized genes., [RefSeq, PubMed]; ZMYND11-MBTD1 induces leukemogenesis through hijacking NuA4/TIP60 acetyltransferase complex and a PWWP-mediated chromatin association mechanism. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZVU7;Q9NXU1", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042393 histone binding;GO:0062060 NuA4 histone acetyltransferase complex binding;GO:0140005 histone H4K20me2 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035267 NuA4 histone acetyltransferase complex;GO:0035861 site of double-strand break", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0042981 regulation of apoptotic process;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q05BQ5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51153-1", "uniprot_id": [ { "id": "RAB13_HUMAN", "url": "https://www.uniprot.org/uniprot/P51153", "type": "external" } ], "mass": 22774.0, "length": 203, "protein_name": "Ras-related protein Rab-13", "gene_name": "RAB13", "organism": "Human", "refseq_name": "ras-related protein Rab-13 isoform 2", "refseq_ac": [ { "id": "NP_001258967", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258967", "type": "external" } ], "gene_names_uniprotkb": "RAB13; GIG4", "gene_names_refseq": "GIG4; RAB13", "protein_names_uniprotkb": "Ras-related protein Rab-13; 3.6.5.2; Cell growth-inhibiting gene 4 protein", "protein_names_refseq": "RAS-associated protein RAB13; cell growth-inhibiting gene 4 protein; growth-inhibiting gene 4 protein; ras-related protein Rab-13 isoform 2; ras-related protein Rab-13", "tax_id": 9606, "disease": "Smith-McCort dysplasia (Disease Ontology:DOID:0060247); Dyggve-Melchior-Clausen disease (Disease Ontology:DOID:0111167)", "pathway": " (hsa:5872); (R-HSA-1445148); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 4, "publication_count": 265, "publication_id_list": "10818110;10990452;11038176;11141079;11179213;11237011;11389151;11447212;11516400;11675392;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15919790;15958533;15971998;16207721;16373702;16401880;16410077;1648736;16525024;16525121;16571673;16641372;16754960;16880201;16880209;16950109;17043139;17114793;17132146;17189207;17208202;17239822;17287728;17369524;17411337;17488286;17562788;17574030;17646400;17671165;17678623;17995453;18076383;18094055;18354496;18367545;1845915;18477474;18532927;18559336;18578522;18585354;18664496;18669648;18691976;18701652;18779367;18804435;1900457;19013499;19109890;19252894;19345684;19403694;19490898;19603039;19620288;19651622;19656848;19725050;19729655;19745841;20008558;20068231;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20631154;20701589;20797862;20837646;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21406692;21421921;21445324;21454505;21454690;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21795389;21907143;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22562557;22581368;22595670;22622570;22648168;22653444;22694141;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23645161;23678941;23684622;23713133;23839779;24023390;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;2550440;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;26969162;27041585;27044746;27103185;27246931;27329675;27452731;27552051;27600516;27862975;28832583;29242379;29331515;29393594;29557506;29769354;29786170;30061757;30779550;31844290;32157095;32350084;32387766;32897882;32938616;32983136;33043033;33592498;34087483;34632655;35051231;35251023;35318648;35343654;35580925;36215666;36284347;36901767;37046345;37938771;39223234;7688123;7911226;7957092;7991565;8094051;8144603;8164745;8294494;8349690;8375503;8408203;8513495;8522602;8631982;8662963;8664345;8836150;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9712853;9733780", "class_list": "", "function": "Construction of Two Independent RAB Family-Based Scoring Systems Based on Machine Learning Algorithms and Definition of RAB13 as a Novel Therapeutic Target for Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of autophagic target RAB13 with small-molecule inhibitor in low-grade glioma via integrated multi-omics approaches coupled with virtual screening of traditional Chinese medicine databases., [RefSeq, PubMed]; RAB13 regulates macrophage polarization in sepsis. Publication Status: Online-Only, [RefSeq, PubMed]; Single-cell transcriptomics in ovarian cancer identify a metastasis-associated cell cluster overexpressed RAB13. Publication Status: Online-Only, [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB13 is involved in endocytic recycling and regulates the transport to the plasma membrane of transmembrane proteins like the tight junction protein OCLN/occludin. Thereby, it regulates the assembly and the activity of tight junctions. Moreover, it may also regulate tight junction assembly by activating the PKA signaling pathway and by reorganizing the actin cytoskeleton through the activation of the downstream effectors PRKACA and MICALL2 respectively. Through its role in tight junction assembly, may play a role in the establishment of Sertoli cell barrier. Plays also a role in angiogenesis through regulation of endothelial cells chemotaxis. Also involved in neurite outgrowth. Has also been proposed to play a role in post-Golgi membrane trafficking from the TGN to the recycling endosome. Finally, it has been involved in insulin-induced transport to the plasma membrane of the glucose transporter GLUT4 and therefore may play a role in glucose homeostasis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene is a member of the Rab family of small G proteins and plays a role in regulating membrane trafficking between trans-Golgi network (TGN) and recycling endosomes (RE). The encoded protein is involved in the assembly of tight junctions, which are components of the apical junctional complex (AJC) of epithelial cells. The AJC plays a role in forming a barrier between luminal contents and the underlying tissue. Additional functions associated with the protein include endocytic recycling of occludin, regulation of epithelial cell scattering, neuronal regeneration and regulation of neurite outgrowth. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 12. [provided by RefSeq, Jan 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K6B5;D3DV67;Q5U0A6;Q6GPG6;Q96GU4", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.4.11.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.3", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0004862 cAMP-dependent protein kinase inhibitor activity;GO:0003925 G protein activity", "go_cellular_component": "GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0015031 protein transport;GO:0031175 neuron projection development;GO:0032869 cellular response to insulin stimulus;GO:0072659 protein localization to plasma membrane;GO:0016197 endosomal transport", "synthesized_glycan_count": 0, "hit_score": 26.6, "record_id": "P51153-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06141-1", "uniprot_id": [ { "id": "REG3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06141", "type": "external" } ], "mass": 19395.0, "length": 175, "protein_name": "Regenerating islet-derived protein 3-alpha", "gene_name": "REG3A", "organism": "Human", "refseq_name": "regenerating islet-derived protein 3-alpha precursor", "refseq_ac": [ { "id": "NP_002571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002571", "type": "external" } ], "gene_names_uniprotkb": "REG3A; HIP; PAP1; PAP", "gene_names_refseq": "HIP/PAP; HIP; INGAP; PAP-H; PAP1; PAP; PBCGF; REG-III; REG3A; REG3", "protein_names_uniprotkb": "Regenerating islet-derived protein 3-alpha; HIP/PAP; HIP; Hepatointestinal pancreatic protein; Human proislet peptide; Pancreatitis-associated protein 1; REG-3-alpha; Reg III-alpha; Regenerating islet-derived protein III-alpha", "protein_names_refseq": "PAP homologous protein; REG-3-alpha; hepatocarcinoma-intestine-pancreas; hepatointestinal pancreatic protein; human proislet peptide; pancreatic beta cell growth factor; pancreatitis-associated protein 1; proliferation-inducing protein 34; proliferation-inducing protein 42; reg III-alpha; regenerating islet-derived 3 alpha; regenerating islet-derived protein 3-alpha precursor; regenerating islet-derived protein 3-alpha; regenerating islet-derived protein III-alpha", "tax_id": 9606, "disease": "chronic pancreatitis (Disease Ontology:DOID:0051065); sciatic neuropathy (Disease Ontology:DOID:11446); acute pancreatitis (Disease Ontology:DOID:2913); liver cirrhosis (Disease Ontology:DOID:5082); pneumonia (Disease Ontology:DOID:552); hepatocellular carcinoma (Disease Ontology:DOID:684); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5068); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "11120840;11237011;11313366;11389039;11971875;12493837;1325291;13816;14506276;1469087;14739326;1522221;15229136;15489334;15778384;15826377;15956276;16054449;16215847;16336202;16354652;16354654;16374474;16799473;16931762;16940129;17363965;17502600;17567961;17964057;18021746;18160480;18185531;18673279;19095652;19158046;19179970;19254208;19818633;20103720;20180804;20382864;20395631;20510021;20845358;21787330;22262861;22327069;22455996;22701042;22727489;23302724;23426625;24219363;24256734;25075772;25461571;25596890;26148048;27089320;27830702;29557506;3286634;33923774;34099862;34408239;34509645;37708849;38011786;38840145;7679928;7721106;8076648;8188210;9523110;9665269;9756476", "class_list": "glycogene", "function": "Acts as a hormone in response to different stimuli like anti-inflammatory signals, such as IL17A, or gut microbiome. Secreted by different cell types to activate its receptor EXTL3 and induce cell specific signaling pathways (PubMed:19158046, PubMed:22727489, PubMed:27830702, PubMed:34099862). Induced by IL17A in keratinocytes, regulates keratinocyte proliferation and differentiation after skin injury via activation of EXTL3-PI3K-AKT signaling pathway (PubMed:22727489). In parallel, inhibits skin inflammation through the inhibition of inflammatory cytokines such as IL6 and TNF (PubMed:27830702). In pancreas, is able to permealize beta-cells membrane and stimulate their proliferation (PubMed:19158046)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Bactericidal C-type lectin which acts exclusively against Gram-positive bacteria and mediates bacterial killing by binding to surface-exposed carbohydrate moieties of peptidoglycan (PubMed:16931762). Binds membrane phospholipids and kills bacteria by forming a hexameric membrane-permeabilizing oligomeric pore (PubMed:24256734)., [UniProtKB, PubMed, PubMed]; Decoding the IBD paradox: A triadic interplay between REG3, enterococci, and NOD2., [RefSeq, PubMed]; Findings show that RegIIIgamma and its human counterpart, HIP/PAP, are directly antimicrobial proteins that bind their bacterial targets via interactions with peptidoglycan carbohydrate, [RefSeq, PubMed]; Has bacteriostatic activity., [UniProtKB, PubMed]; Increased expression of REG3A promotes tumorigenic behavior in triple negative breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a pancreatic secretory protein that may be involved in cell proliferation or differentiation. It has similarity to the C-type lectin superfamily. The enhanced expression of this gene is observed during pancreatic inflammation and liver carcinogenesis. The mature protein also functions as an antimicrobial protein with antibacterial activity. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Nov 2014]., [RefSeq]; Tumor-suppressive effect of Reg3A in COAD is mediated by T cell activation in nude mice., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 354, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0030246 carbohydrate binding;GO:0005179 hormone activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0045617 negative regulation of keratinocyte differentiation;GO:0008284 positive regulation of cell population proliferation;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0006953 acute-phase response;GO:0009611 response to wounding", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q06141-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L523-1", "uniprot_id": [ { "id": "RRAGA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L523", "type": "external" } ], "mass": 36566.0, "length": 313, "protein_name": "Ras-related GTP-binding protein A", "gene_name": "RRAGA", "organism": "Human", "refseq_name": "ras-related GTP-binding protein A", "refseq_ac": [ { "id": "NP_006561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006561", "type": "external" } ], "gene_names_uniprotkb": "RRAGA", "gene_names_refseq": "FIP-1; FIP1; RAGA; RRAGA", "protein_names_uniprotkb": "Ras-related GTP-binding protein A; 3.6.5.-; Adenovirus E3 14.7 kDa-interacting protein 1; FIP-1; Rag A; RagA", "protein_names_refseq": "adenovirus E3 14.7 kDa-interacting protein 1; adenovirus E3-14.7K interacting protein 1; rag A; ras-related GTP-binding protein A", "tax_id": 9606, "disease": "ragopathy (Disease Ontology:DOID:0061140)", "pathway": " (hsa:10670); (R-HSA-1632852); (R-HSA-165159); (R-HSA-166208); (R-HSA-380972); (R-HSA-5628897); (R-HSA-8866654); (R-HSA-8943724); (R-HSA-9639288)", "pathway_count": 9, "publication_count": 293, "publication_id_list": "10329961;10562279;10654941;10716435;10745013;10980602;11018120;11029283;11034341;11073942;11096062;11340051;11378386;11486029;11545734;11740563;11781575;11825910;11959846;12150926;12151408;12161445;12203114;12438239;12453409;12524439;12714747;12742462;12805220;12869586;12906785;13298683;13538944;14511394;14517248;14614828;14651849;14660641;14985505;15105503;15187094;15215855;15215856;15223;15314020;15579580;15589136;15755954;15809305;15854902;15878852;16098514;16140933;16307923;16413492;16418168;16636147;16676006;16702404;16728594;16760263;16839880;16868077;16943194;16963840;17108083;17130289;1715244;17277771;17298220;17386266;17470430;17486094;17510057;17517883;17540029;17618624;17726030;17873065;17974977;18172008;18198340;18316726;18321988;18344994;18359941;18372248;18391013;18439900;18487508;18497260;18604198;18692468;18719106;19113821;19208625;19211835;19322194;19410543;19439913;19440552;19487573;19590496;19723507;19822145;19855179;19884659;19898463;20059746;20068231;20080666;20182617;20233713;20351271;20378837;20381137;20516213;20713597;20921139;21177865;21203937;21205641;21258367;21289308;21329877;21383122;21396873;21460621;21554508;21602892;21750704;21819378;21958598;22021426;22053050;22128185;22170151;22363791;22575674;22682742;22980980;23186163;23202584;23287862;23481700;23685627;23723238;23727157;23775793;23884233;24066844;24081491;24095279;24366874;24383451;24397554;24662292;24715725;24718924;24747438;24807418;24954904;24958902;24979766;25030448;25170678;25259925;25263562;25418920;25457612;25484072;25561175;25567906;25568151;25576301;25579166;25645385;25728608;25819761;25892735;25936802;25961827;25963655;26086376;26154972;26210183;26216882;26344566;26350214;26375851;26449471;26586190;26652033;26711259;26910647;26972053;26992070;27308486;27397612;27487210;27569044;27597759;27648300;27798111;28066558;28199306;28199315;28218747;28228285;28832583;28834231;28904123;28935770;29053970;29056322;29123071;29158492;29236692;29242379;29393594;29437277;29508533;29590090;29632046;29632711;29769354;29786170;30061680;30181260;30410026;30429286;30484775;30651352;31036939;31154438;31217245;31601708;31601764;31672913;31704029;31844290;31848261;32157095;32265295;32350084;32488085;32502341;32868926;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34433824;34509645;34561969;35051231;35058442;35338845;35580925;36010968;36103527;36241641;36608670;36697823;36823443;38103557;5666113;7499430;7628435;7979252;7989588;8119488;8549768;8625414;8779952;8991089;8995684;9394008;9721431;9926927", "class_list": "", "function": "(Microbial infection) May alternatively act as a cellular target for adenovirus E3-14.7K, an inhibitor of TNF functions, thereby affecting cell death., [UniProtKB, PubMed]; Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade (PubMed:20381137, PubMed:24095279, PubMed:25936802, PubMed:31601708, PubMed:31601764, PubMed:38103557). Forms heterodimeric Rag complexes with RagC/RRAGC or RagD/RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form: RagA/RRAGA is in its active form when GTP-bound RagA/RRAGA forms a complex with GDP-bound RagC/RRAGC (or RagD/RRAGD) and in an inactive form when GDP-bound RagA/RRAGA heterodimerizes with GTP-bound RagC/RRAGC (or RagD/RRAGD) (PubMed:20381137, PubMed:24095279, PubMed:25936802, PubMed:31601708, PubMed:31601764, PubMed:32868926). In its GTP-bound active form, promotes the recruitment of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB (PubMed:20381137, PubMed:25936802, PubMed:31601708, PubMed:31601764). Involved in the RCC1/Ran-GTPase pathway (PubMed:9394008). May play a direct role in a TNF signaling pathway leading to induction of cell death (PubMed:8995684)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RAGA prevents tumor immune evasion of LUAD by promoting CD47 lysosome degradation. Publication Status: Online-Only, [RefSeq, PubMed]; Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7L1;O00290;Q15347", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.26.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005764 lysosome", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0035556 intracellular signal transduction;GO:0006915 apoptotic process;GO:0042593 glucose homeostasis;GO:0010507 negative regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 29.4, "record_id": "Q7L523-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PEW1-1", "uniprot_id": [ { "id": "ZCH12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PEW1", "type": "external" } ], "mass": 45369.0, "length": 402, "protein_name": "Zinc finger CCHC domain-containing protein 12", "gene_name": "ZCCHC12", "organism": "Human", "refseq_name": "zinc finger CCHC domain-containing protein 12", "refseq_ac": [ { "id": "NP_001299820", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299820", "type": "external" } ], "gene_names_uniprotkb": "ZCCHC12; SIZN1", "gene_names_refseq": "PNMA7A; SIZN1; SIZN; ZCCHC12", "protein_names_uniprotkb": "Zinc finger CCHC domain-containing protein 12; Smad-interacting zinc finger protein 1", "protein_names_refseq": "paraneoplastic Ma antigen family member 7A; smad-interacting zinc finger protein 1; zinc finger CCHC domain-containing protein 12; zinc finger, CCHC domain containing 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:170261)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "18798319;19416967;19578717;26522270;29557506;35051231", "class_list": "", "function": "Data implicate SIZN1 as a candidate gene for X-linked mental retardation and/or as a neurocognitive functional modifier, [RefSeq, PubMed]; Data indicate that the SIMs in Sizn1 are required for its PML-NB localization and for the full transcriptional co-activation function in BMP signaling., [RefSeq, PubMed]; This gene encodes a downstream effector of bone morphogenetic protein (BMP) signalling. This protein contains a zinc finger domain and functions as a transcriptional coactivator. Variation in this gene may be associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]., [RefSeq]; Transcriptional coactivator in the bone morphogenetic protein (BMP)-signaling pathway. It positively modulates BMP signaling by interacting with SMAD1 and associating with CBP in the transcription complex. It contributes to the BMP-induced enhancement of cholinergic-neuron-specific gene expression (By similarity)., [UniProtKB]; ZCCHC12 enhanced the transcriptional activities of activator protein 1 (AP-1) and cAMP response element binding protein (CREB) as a coactivator, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KV48;Q6PID5;Q8N1C1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6PEW1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q17RF5-1", "uniprot_id": [ { "id": "ODAPH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q17RF5", "type": "external" } ], "mass": 15556.0, "length": 130, "protein_name": "Odontogenesis associated phosphoprotein", "gene_name": "ODAPH", "organism": "Human", "refseq_name": "odontogenesis associated phosphoprotein isoform 1 precursor", "refseq_ac": [ { "id": "NP_001193910", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193910", "type": "external" } ], "gene_names_uniprotkb": "ODAPH; C4orf26", "gene_names_refseq": "AI2A4; C4orf26; ODAPH", "protein_names_uniprotkb": "Odontogenesis associated phosphoprotein", "protein_names_refseq": "amelogenesis imperfecta type IIA4; odontogenesis associated phosphoprotein isoform 1 precursor; uncharacterized protein C4orf26", "tax_id": 9606, "disease": "amelogenesis imperfecta hypomaturation type 2A4 (Disease Ontology:DOID:0110062)", "pathway": " (hsa:152816)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;22901946;27558265;28649982", "class_list": "", "function": "Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the uncharacterized gene, C4orf26, as a cause of recessive hypomineralized amelogenesis imperfecta, [RefSeq, PubMed]; Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012]., [RefSeq]; May promote nucleation of hydroxyapatite., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DTI3;E7ETQ0;Q8TEC3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0070169 positive regulation of biomineral tissue development;GO:0070175 positive regulation of enamel mineralization", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q17RF5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXQ6-1", "uniprot_id": [ { "id": "PARP9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXQ6", "type": "external" } ], "mass": 96343.0, "length": 854, "protein_name": "Protein mono-ADP-ribosyltransferase PARP9", "gene_name": "PARP9", "organism": "Human", "refseq_name": "protein mono-ADP-ribosyltransferase PARP9 isoform a", "refseq_ac": [ { "id": "NP_001139574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139574", "type": "external" } ], "gene_names_uniprotkb": "PARP9; BAL1; BAL", "gene_names_refseq": "ARTD9; BAL1; BAL; MGC:7868; PARP9", "protein_names_uniprotkb": "Protein mono-ADP-ribosyltransferase PARP9; 2.4.2.-; ADP-ribosyltransferase diphtheria toxin-like 9; ARTD9; B aggressive lymphoma protein; PARP-9; Poly [ADP-ribose] polymerase 9", "protein_names_refseq": "ADP-ribosyltransferase diphtheria toxin-like 9; PARP-9; b aggressive lymphoma protein; poly (ADP-ribose) polymerase 9; poly [ADP-ribose] polymerase 9; protein mono-ADP-ribosyltransferase PARP9 isoform a; protein mono-ADP-ribosyltransferase PARP9", "tax_id": 9606, "disease": "", "pathway": " (hsa:83666); (R-HSA-196807); (R-HSA-9683610); (R-HSA-9694631)", "pathway_count": 4, "publication_count": 147, "publication_id_list": "10331643;10613898;11110709;11237011;11248244;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12670957;12790796;13563527;14516279;14966140;15090606;15137942;15381699;15674325;15848177;16103198;16118205;1637327;16690024;16809771;17402747;17604275;17641676;17868694;17914902;18339380;18411268;19106108;19531469;20106667;20388704;2129526;21504897;21699903;21933152;21994945;22701565;22822066;23212377;23230272;23481700;24366607;24714562;24717514;24847004;25418920;25502872;25531177;25576301;26154972;26375851;26479788;26598975;26728094;26811146;26929215;26992070;27543614;27600516;27796300;27862975;27920218;28063628;28218747;28228285;28467828;28525742;28649982;28832583;28834231;28871256;28904123;29199039;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30573663;31217245;31844290;32029454;32157095;32350084;32357974;32387766;32488085;32502341;32637943;32645325;32723359;32817937;32877642;32897882;32906142;32938616;32983136;33087354;33248025;33298915;33592498;33717175;33912179;33936100;33968037;33976210;33981976;33997890;34029587;34078123;34087483;34171305;34357683;34358560;34593624;34932366;35051231;35154160;35561310;35580925;36010968;36284347;37200107;37938771;38344758;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "ADP-ribosyltransferase which, in association with E3 ligase DTX3L, plays a role in DNA damage repair and in immune responses including interferon-mediated antiviral defenses (PubMed:16809771, PubMed:23230272, PubMed:26479788, PubMed:27796300). Within the complex, enhances DTX3L E3 ligase activity which is further enhanced by PARP9 binding to poly(ADP-ribose) (PubMed:28525742). In association with DTX3L and in presence of E1 and E2 enzymes, mediates NAD(+)-dependent mono-ADP-ribosylation of ubiquitin which prevents ubiquitin conjugation to substrates such as histones (PubMed:28525742). During DNA repair, PARP1 recruits PARP9/BAL1-DTX3L complex to DNA damage sites via PARP9 binding to ribosylated PARP1 (PubMed:23230272). Subsequent PARP1-dependent PARP9/BAL1-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites (PubMed:23230272, PubMed:28525742). In response to DNA damage, PARP9-DTX3L complex is required for efficient non-homologous end joining (NHEJ); the complex function is negatively modulated by PARP9 activity (PubMed:28525742). Dispensable for B-cell receptor (BCR) assembly through V(D)J recombination and class switch recombination (CSR) (By similarity). In macrophages, positively regulates pro-inflammatory cytokines production in response to IFNG stimulation by suppressing PARP14-mediated STAT1 ADP-ribosylation and thus promoting STAT1 phosphorylation (PubMed:27796300). Also suppresses PARP14-mediated STAT6 ADP-ribosylation (PubMed:27796300)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; BAL1 and BBAP are located on chromosome 3q21 in a head-to-head orientation and are regulated by a IFN-gamma-responsive bidirectional promoter., [RefSeq, PubMed]; Determination of Poly (ADP-ribose) polymerase (PARP) homologues in human ejaculated sperm and its correlation with sperm maturation., [RefSeq, PubMed]; Identification of poly(ADP-ribose) polymerase 9 (PARP9) as a noncanonical sensor for RNA virus in dendritic cells. Publication Status: Online-Only, [RefSeq, PubMed]; P. gingivalis-Induced TLR2 Interactome Analysis Reveals Association with PARP9., [RefSeq, PubMed]; Poly(ADP-ribose) polymerase 9 mediates early protection against Mycobacterium tuberculosis infection by regulating type I IFN production. Publication Status: Online-Only, [RefSeq, PubMed]; The SARS-CoV-2 Nsp3 macrodomain reverses PARP9/DTX3L-dependent ADP-ribosylation induced by interferon signaling., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8KA94;B2R8S9;E9PFM7;Q8TCP3;Q9BZL8;Q9BZL9", "ec_number_list": [ { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" } ], "go_molecular_function": "GO:0097677 STAT family protein binding;GO:0004857 enzyme inhibitor activity;GO:0019899 enzyme binding;GO:0003714 transcription corepressor activity;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0035563 positive regulation of chromatin binding;GO:0019082 viral protein processing;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0010629 negative regulation of gene expression;GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q8IXQ6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2M1-1", "uniprot_id": [ { "id": "LR2BP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2M1", "type": "external" } ], "mass": 39780.0, "length": 347, "protein_name": "LRP2-binding protein", "gene_name": "LRP2BP", "organism": "Human", "refseq_name": "LRP2-binding protein isoform 1", "refseq_ac": [ { "id": "NP_060879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060879", "type": "external" } ], "gene_names_uniprotkb": "LRP2BP; KIAA1325", "gene_names_refseq": "LRP2BP", "protein_names_uniprotkb": "LRP2-binding protein; MegBP; Megalin-binding protein", "protein_names_refseq": "LRP2-binding protein isoform 1; megBP; megalin-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55805)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12508107;15809689;17287340;19366958;19577669;29363163;33069728", "class_list": "", "function": "A 56-year-old female patient with FOAR syndrome and a novel mutation is reported., [RefSeq, PubMed]; Aberrant shedding of megalin and cubilin may contribute to albuminuria in diabetes and to deficiency states of important vitamins and hormones., [RefSeq, PubMed]; Both in the cytoplasm and nucleus, 4 ankyrin repeats, [RefSeq, PubMed]; Exome-Wide Association Analysis Suggests LRP2BP as a Susceptibility Gene for Endothelial Injury in Systemic Sclerosis in the Han Chinese Population., [RefSeq, PubMed]; May act as an adapter that regulates LRP2 function., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; RP11-714G18.1 may play an athero-protective role by inhibiting vascular cell migration via RP11-714G18.1/LRP2BP/MMP1 signaling pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NJR7;A7E219;B3KX83;Q9NSN6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9P2M1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75896-1", "uniprot_id": [ { "id": "TUSC2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75896", "type": "external" } ], "mass": 12074.0, "length": 110, "protein_name": "Tumor suppressor candidate 2", "gene_name": "TUSC2", "organism": "Human", "refseq_name": "tumor suppressor candidate 2", "refseq_ac": [ { "id": "NP_009206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009206", "type": "external" } ], "gene_names_uniprotkb": "TUSC2; C3orf11; FUS1; LGCC; PDAP2", "gene_names_refseq": "C3orf11; FUS1; PAP; PDAP2; TUSC2", "protein_names_uniprotkb": "Tumor suppressor candidate 2; Fus-1 protein; Fusion 1 protein; PDGFA-associated protein 2", "protein_names_refseq": "PDGFA-associated protein 2; fus-1 protein; fusion 1 protein; tumor suppressor candidate 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:11334)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;11593436;15126327;19690332;20166139;21645495;24275569;24715725;27600516;27920218;28228285;28832583;28834231;29242379;29557506;30315122;31844290;31848261;31973107;32157095;33592498;34357683;35167936", "class_list": "", "function": "May function as a tumor suppressor, inhibiting colony formation, causing G1 arrest and ultimately inducing apoptosis in homozygous 3p21.3 120-kb region-deficient cells., [UniProtKB]; NEDD4 degrades TUSC2 to promote glioblastoma progression., [RefSeq, PubMed]; Overexpression of candidate tumor suppressor geneFUS1 isolated from the 3p21.3 homozygous deletionregion leads to G1 arrest and growth inhibition oflung cancer cells., [RefSeq, PubMed]; RNA sequence elements in FUS1 UTRs that regulate FUS1 protein express were identified., [RefSeq, PubMed]; The TUSC2 Tumour Suppressor Inhibits the Malignant Phenotype of Human Thyroid Cancer Cells via SMAC/DIABLO Protein. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4Y9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0006954 inflammatory response;GO:0051881 regulation of mitochondrial membrane potential", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "O75896-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IV50-1", "uniprot_id": [ { "id": "LYSM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IV50", "type": "external" } ], "mass": 23463.0, "length": 215, "protein_name": "LysM and putative peptidoglycan-binding domain-containing protein 2", "gene_name": "LYSMD2", "organism": "Human", "refseq_name": "lysM and putative peptidoglycan-binding domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001137389", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137389", "type": "external" } ], "gene_names_uniprotkb": "LYSMD2", "gene_names_refseq": "LYSMD2", "protein_names_uniprotkb": "LysM and putative peptidoglycan-binding domain-containing protein 2", "protein_names_refseq": "LysM, putative peptidoglycan-binding, domain containing 2; lysM and putative peptidoglycan-binding domain-containing protein 2 isoform 2; lysM and putative peptidoglycan-binding domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:256586)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;15592455;19651622;19690332;20068231;20166139;23186163;23481700;24275569;25418920;25469497;25576301;25892735;26758079;26811146;27846572;28063628;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;30315122;30429286;30833945;31154438;31530632;31844290;31848261;32157095;32357974;32502341;33298915;33912179;33968037;34932366;35051231;35580925", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5CZ88;Q8WTV3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q8IV50-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55145-1", "uniprot_id": [ { "id": "MANF_HUMAN", "url": "https://www.uniprot.org/uniprot/P55145", "type": "external" } ], "mass": 20700.0, "length": 182, "protein_name": "Mesencephalic astrocyte-derived neurotrophic factor", "gene_name": "MANF", "organism": "Human", "refseq_name": "mesencephalic astrocyte-derived neurotrophic factor precursor", "refseq_ac": [ { "id": "NP_006001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006001", "type": "external" } ], "gene_names_uniprotkb": "MANF; ARMET; ARP", "gene_names_refseq": "ARMET; ARP; DDDS; MANF", "protein_names_uniprotkb": "Mesencephalic astrocyte-derived neurotrophic factor; Arginine-rich protein; Protein ARMET", "protein_names_refseq": "arginine-rich, mutated in early stage tumors; mesencephalic astrocyte-derived neurotrophic factor precursor", "tax_id": 9606, "disease": "Parkinsonism (Disease Ontology:DOID:0080855); bacterial infectious disease (Disease Ontology:DOID:104); neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330); breast cancer (Disease Ontology:DOID:1612); squamous cell carcinoma (Disease Ontology:DOID:1749); pancreatic cancer (Disease Ontology:DOID:1793); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); diabetes, deafness, developmental delay, and short stature syndrome (MONDO:MONDO:0957997)", "pathway": " (hsa:7873); (R-HSA-114608)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "11237011;12665801;12794311;1435334;14630798;15144186;15297306;18561914;19258449;22637475;22645359;23640497;25418920;25502872;26077850;26154972;26811146;26992070;27600516;27846572;27920218;28218747;28228285;28649982;28832583;29242379;29393594;29493099;29497057;29557506;29632046;29786170;30315122;30484775;31844290;32157095;32350084;32387766;32897882;32938616;33141586;33500254;33592498;33912179;34078123;34171305;34433824;35051231;35251023;36010968;36739529;38229173;38665916;38735002;38838432;6457647;8467233;8649854;8971156;9174057", "class_list": "", "function": "Cerebrospinal fluid mesencephalic astrocyte-derived neurotrophic factor: A moderating effect on sleep time and cognitive function., [RefSeq, PubMed]; MANF protein expression is upregulated in immune cells in the ischemic human brain and systemic recombinant MANF delivery in rat ischemic stroke model demonstrates anti-inflammatory effects. Publication Status: Online-Only, [RefSeq, PubMed]; Mesencephalic astrocyte-derived neurotrophic factor inhibits cervical cancer progression via regulating macrophage phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; Selectively promotes the survival of dopaminergic neurons of the ventral mid-brain (PubMed:12794311). Modulates GABAergic transmission to the dopaminergic neurons of the substantia nigra (By similarity). Enhances spontaneous, as well as evoked, GABAergic inhibitory postsynaptic currents in dopaminergic neurons (By similarity). Inhibits cell proliferation and endoplasmic reticulum (ER) stress-induced cell death (PubMed:18561914, PubMed:22637475, PubMed:29497057, PubMed:36739529). Retained in the ER/sarcoplasmic reticulum (SR) through association with the endoplasmic reticulum chaperone protein HSPA5 under normal conditions (PubMed:22637475). Stabilizes HSPA5/BiP in its substrate-bound ADP state, which facilitates HSPA5/BiP incorporation into chaperone-client complexes during endoplasmic reticulum stress, its interaction with HSPA5/BiP inhibits ATP binding to HSPA5/BiP and subsequent nucleotide exchange (By similarity). As a result acts as a repressor of the unfolded protein response (UPR) pathway (By similarity). Up-regulated and secreted by the ER/SR in response to ER stress and hypoxia (PubMed:22637475). Following secretion by the ER/SR, directly binds to 3-O-sulfogalactosylceramide, a lipid sulfatide in the outer cell membrane of target cells (PubMed:29497057). Sulfatide binding promotes its cellular uptake by endocytosis, and is required for its role in alleviating ER stress and cell toxicity under hypoxic and ER stress conditions (PubMed:29497057). Essential for embryonic lung development (By similarity). Required for the correct postnatal temporal and structural development of splenic white pulp (By similarity). Required for the repair-associated myeloid response in skeletal muscle, acts as a regulator of phenotypic transition towards prorepair macrophages in response to muscle injury and as a result limits excessive proinflammatory signaling (By similarity). Represses RELA expression and therefore NF-kB signaling in the myocardium, as a result limits macrophage infiltration of injured tissue and M1 macrophage differentiation in response to myocardial injury (By similarity). Required for endochondral ossification in long bones and the skull during postnatal development (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Structures of MANF and CDNF were solved; structure explains why MANF and CDNF are bifunctional; neurotrophic activity may reside in the N-terminal domain and ER stress response in the C-terminal domain, [RefSeq, PubMed]; The protein encoded by this gene is localized in the endoplasmic reticulum (ER) and golgi, and is also secreted. Reducing expression of this gene increases susceptibility to ER stress-induced death and results in cell proliferation. Activity of this protein is important in promoting the survival of dopaminergic neurons. The presence of polymorphisms in the N-terminal arginine-rich region, including a specific mutation that changes an ATG start codon to AGG, have been reported in a variety of solid tumors; however, these polymorphisms were later shown to exist in normal tissues and are thus no longer thought to be tumor-related. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q14CX4;Q86U67;Q96IS4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008083 growth factor activity;GO:0120146 sulfatide binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0031175 neuron projection development;GO:0036500 ATF6-mediated unfolded protein response;GO:0071542 dopaminergic neuron differentiation;GO:1905897 regulation of response to endoplasmic reticulum stress", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P55145-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6M9-1", "uniprot_id": [ { "id": "NDUB9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6M9", "type": "external" } ], "mass": 21831.0, "length": 179, "protein_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9", "gene_name": "NDUFB9", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 4", "refseq_ac": [ { "id": "NP_001298097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001298097", "type": "external" } ], "gene_names_uniprotkb": "NDUFB9; LYRM3; UQOR22", "gene_names_refseq": "B22; CI-B22; LYRM3; MC1DN24; NDUFB9; UQOR22", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9; CI-B22; Complex I-B22; LYR motif-containing protein 3; NADH-ubiquinone oxidoreductase B22 subunit", "protein_names_refseq": "LYR motif-containing protein 3; NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa; NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 4; NADH-ubiquinone oxidoreductase B22 subunit; complex I B22 subunit", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 24 (Disease Ontology:DOID:0112079)", "pathway": " (hsa:4715); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 82, "publication_id_list": "10077726;10327278;10944468;11220739;11237011;11695836;12231006;12611891;12837546;1327877;14741580;15250827;16230336;17033964;17936786;186667;18691976;19752196;20068231;20406883;20552642;20858599;21924235;22200994;23150584;23270816;23481700;23553477;23564345;23747254;239860;24191001;25418920;25564869;25576301;25678554;26992070;27499296;27626371;28218747;28228285;28510447;28832583;28834231;28855257;28904123;29242379;29437277;29493099;29557506;29632046;29632711;30192525;30315122;30410026;30429286;30524438;31666358;31844290;31848261;31866046;32157095;32320651;32488085;32502341;32897882;32938616;33633747;33879611;33882309;33912179;34357683;34509645;34561969;35333655;35614220;36284347;37938771;38199007;4288886;9571201;9878551", "class_list": "", "function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8M6;Q9UQE8", "ec_number_list": [], "go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0007605 sensory perception of sound;GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q9Y6M9-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15722-1", "uniprot_id": [ { "id": "LT4R1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15722", "type": "external" } ], "mass": 37557.0, "length": 352, "protein_name": "Leukotriene B4 receptor 1", "gene_name": "LTB4R", "organism": "Human", "refseq_name": "leukotriene B4 receptor 1", "refseq_ac": [ { "id": "NP_001137391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137391", "type": "external" } ], "gene_names_uniprotkb": "LTB4R; BLT1; BLTR; BLT; CMKRL1; GPR16; P2RY7", "gene_names_refseq": "BLT1; BLTR; CMKRL1; GPR16; LTB4R1; LTB4R; LTBR1; P2RY7; P2Y7", "protein_names_uniprotkb": "Leukotriene B4 receptor 1; Chemoattractant receptor-like 1; G protein-coupled receptor 16; LTB4-R 1; LTB4-R1; P2Y purinoceptor 7; P2Y7", "protein_names_refseq": "G protein-coupled receptor 16; LTB4-R 1; LTB4-R1; P2Y purinoceptor 7; chemoattractant receptor-like 1; chemokine receptor-like 1; leukotriene B4 receptor 1; purinergic receptor P2Y, G-protein coupled, 7", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841); carotid artery disease (Disease Ontology:DOID:3407)", "pathway": " (hsa:1241); (R-HSA-391906); (R-HSA-416476)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "10191087;10391245;10462554;10567430;10727532;10851239;10861009;10934229;10934230;11015615;11237011;11742120;11753430;12077128;12120503;15951850;16182515;16268778;16339447;16754659;16923326;16990797;18434541;18515384;18577758;18936096;1905813;20058876;2543269;2548477;2841328;29393594;3086311;32439596;32956759;34016973;34339312;35241677;7937899;8558062;8664309;8702478;8921391;9177352;9305846;9504401;9770463", "class_list": "", "function": "A regulatory role of scavenger receptor class B type 1 in endocytosis and lipid droplet formation induced by liposomes containing phosphatidylethanolamine in HEK293T cells., [RefSeq, PubMed]; Receptor for extracellular ATP > UTP and ADP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. May be the cardiac P2Y receptor involved in the regulation of cardiac muscle contraction through modulation of L-type calcium currents. Is a receptor for leukotriene B4, a potent chemoattractant involved in inflammation and immune response., [UniProtKB]; SPM Receptor Expression and Localization in Irradiated Salivary Glands., [RefSeq, PubMed]; Structural basis of leukotriene B4 receptor 1 activation. Publication Status: Online-Only, [RefSeq, PubMed]; Structural insights on ligand recognition at the human leukotriene B4 receptor 1. Publication Status: Online-Only, [RefSeq, PubMed]; The role of the LTB4-BLT1 axis in health and disease. Review article Erratum:[Pharmacol Res. 2020 Sep;159:105011. doi: 10.1016/j.phrs.2020.105011. PMID: 32595014], [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q13305;Q53XV5;Q92641;Q9BSU5", "ec_number_list": [], "go_molecular_function": "GO:0000166 nucleotide binding;GO:0008528 G protein-coupled peptide receptor activity;GO:0001632 leukotriene B4 receptor activity;GO:0004974 leukotriene receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006936 muscle contraction;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q15722-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZWT7-1", "uniprot_id": [ { "id": "MBOA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZWT7", "type": "external" } ], "mass": 59527.0, "length": 520, "protein_name": "Membrane-bound glycerophospholipid O-acyltransferase 2", "gene_name": "MBOAT2", "organism": "Human", "refseq_name": "membrane-bound glycerophospholipid O-acyltransferase 2 isoform 2", "refseq_ac": [ { "id": "NP_001308194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308194", "type": "external" } ], "gene_names_uniprotkb": "MBOAT2; LPCAT4; OACT2", "gene_names_refseq": "LPAAT; LPCAT; LPEAT; LPLAT 2; LPLAT13; MBOAT2; OACT2", "protein_names_uniprotkb": "Membrane-bound glycerophospholipid O-acyltransferase 2; 1-acylglycerophosphate O-acyltransferase MBOAT2; 1-acylglycerophosphocholine O-acyltransferase MBOAT2; 1-acylglycerophosphoethanolamine MBOAT2 O-acyltransferase; 2.3.1.-; 2.3.1.23; 2.3.1.51; 2.3.1.n7; LPAAT; LPCAT; LPEAT; LPLAT 2; Lyso-PA acyltransferase; Lyso-PC acyltransferase 4; Lyso-PC acyltransferase; Lyso-PE acyltransferase; Lysophosphatidic acid acyltransferase; Lysophosphatidylcholine acyltransferase 4; Lysophosphatidylcholine acyltransferase; Lysophosphatidylethanolamine acyltransferase; Lysophospholipid acyltransferase 2; Membrane-bound O-acyltransferase domain-containing protein 2; O-acyltransferase domain-containing protein 2", "protein_names_refseq": "1-acylglycerophosphate O-acyltransferase MBOAT2; 1-acylglycerophosphate O-acyltransferase; 1-acylglycerophosphocholine O-acyltransferase MBOAT2; 1-acylglycerophosphoethanolamine MBOAT2 O-acyltransferase; 1-acylglycerophosphoethanolamine O-acyltransferase; O-acyltransferase (membrane bound) domain containing 2; lyso-PA acyltransferase; lyso-PC acyltransferase; lyso-PE acyltransferase; lysophosphatidic acid acyltransferase; lysophosphatidylcholine acyltransferase; lysophosphatidylethanolamine acyltransferase; lysophospholipid acyltransferase 13; lysophospholipid acyltransferase 2; membrane bound O-acyltransferase domain containing 2; membrane-bound O-acyltransferase domain-containing protein 2; membrane-bound glycerophospholipid O-acyltransferase 2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:129642); (R-HSA-1482788); (R-HSA-1482839)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "10085124;10092647;10336645;10358058;10455175;10681567;11031251;11112443;11237011;11830583;12150957;12161451;12359733;12522102;14709560;15695510;15863501;15944408;1618844;16243729;16303743;16617059;16704971;16818490;16864775;17182612;17890783;18195019;18287005;18458083;18614531;18772128;18781350;19019078;1904318;19351971;19501189;20705608;21515882;22605381;22825852;25418920;25892735;26463208;26503625;26811146;28228285;28904123;29242379;2925608;2925633;29393594;29557506;29632046;30779550;31154438;31217245;31844290;31848261;32157095;32265295;32983136;33592498;33832516;33912179;33968037;34185709;34357683;35051231;35580925;36010968;36635270;7060561;8083230;8300559;9188469;9417066;9705332", "class_list": "", "function": "Acyltransferase which catalyzes the transfer of an acyl group from an acyl-CoA to a lysophospholipid leading to the production of a phospholipid and participates in the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle (PubMed:18772128). Catalyzes preferentially the acylation of lysophosphatidylethanolamine (1-acyl-sn-glycero-3-phosphoethanolamine or LPE) and lysophosphatidic acid (LPA) and to a lesser extend lysophosphatidylcholine (LPC) and lysophosphatidylserine (LPS) (PubMed:18772128). Prefers oleoyl-CoA as the acyl donor (PubMed:18772128). May be involved in chondrocyte differentiation (By similarity)., [UniProtKB, UniProtKB, PubMed]; Circ-MBOAT2 knockdown represses tumor progression and glutamine catabolism by miR-433-3p/GOT1 axis in pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CircRNA MBOAT2 promotes intrahepatic cholangiocarcinoma progression and lipid metabolism reprogramming by stabilizing PTBP1 to facilitate FASN mRNA cytoplasmic export. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A9EDR2;Q8NCE7;Q96KY4", "ec_number_list": [ { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.15", "type": "external" }, { "id": "2.3.1.121", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.121", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.n6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n6", "type": "external" }, { "id": "2.3.1.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n7", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" } ], "go_molecular_function": "GO:0047144 2-acylglycerol-3-phosphate O-acyltransferase activity;GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity;GO:0047184 1-acylglycerophosphocholine O-acyltransferase activity;GO:0016746 acyltransferase activity;GO:0106262 1-acylglycerophosphoethanolamine O-acyltransferase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0036152 phosphatidylethanolamine acyl-chain remodeling;GO:0036151 phosphatidylcholine acyl-chain remodeling;GO:0032330 regulation of chondrocyte differentiation;GO:0008654 phospholipid biosynthetic process;GO:0036150 phosphatidylserine acyl-chain remodeling", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q6ZWT7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14703-1", "uniprot_id": [ { "id": "MBTP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14703", "type": "external" } ], "mass": 117749.0, "length": 1052, "protein_name": "Membrane-bound transcription factor site-1 protease", "gene_name": "MBTPS1", "organism": "Human", "refseq_name": "membrane-bound transcription factor site-1 protease preproprotein", "refseq_ac": [ { "id": "NP_003782", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003782", "type": "external" } ], "gene_names_uniprotkb": "MBTPS1; KIAA0091; S1P; SKI1", "gene_names_refseq": "CAOP; MBTPS1; PCSK8; S1P; SEDKF; SKI-1", "protein_names_uniprotkb": "Membrane-bound transcription factor site-1 protease; 3.4.21.112; Endopeptidase S1P; SKI-1; Subtilisin/kexin-isozyme 1", "protein_names_refseq": "endopeptidase S1P; membrane-bound transcription factor site-1 protease preproprotein; membrane-bound transcription factor site-1 protease; proprotein convertase subtilisin/kexin type 8; site-1 protease; subtilisin/kexin isozyme-1", "tax_id": 9606, "disease": "idiopathic scoliosis (Disease Ontology:DOID:0060250); spondyloepiphyseal dysplasia Kondo-Fu type (Disease Ontology:DOID:0112283); cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome (MONDO:MONDO:0979240)", "pathway": " (hsa:8720); (R-HSA-1655829); (R-HSA-381033); (R-HSA-381426); (R-HSA-8874177); (R-HSA-8874211); (R-HSA-8957275); (R-HSA-8963889)", "pathway_count": 8, "publication_count": 220, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10026136;10077652;10218588;10397761;10428864;10512690;10564271;10614670;10644685;10681634;10805775;10810289;10856300;10898936;10900462;10912521;10944850;10951195;10990447;11158056;11158310;11163209;11237011;11250653;11256944;11264294;11283257;11316783;11353085;11522292;11606061;11739083;11751371;11788658;11821395;11830526;12110171;12138176;12241545;12379487;12466191;12782636;12810533;12904166;1301939;1370451;1383255;14645851;14973138;15126567;15284087;15299016;15308688;15469690;15485880;15525596;15550381;15642270;15657421;15800215;16109723;16236796;16417584;16469704;16940180;17047378;17088546;17117415;17249697;17312271;17449569;17522056;17712038;17875199;17883852;17985932;17994020;17997385;18391022;18491316;19304573;19361614;19693772;19883396;20356926;20546900;20581395;21666694;21719679;21767813;21844202;22262056;22569073;22705851;22740495;23020258;23090970;23150577;23256041;23481700;23584533;24126059;24190977;24397894;24715725;2476804;2479552;24909692;24960069;25387803;25447309;25576301;25625847;25645385;25813380;25955804;26091039;26154972;26375851;26648175;26810754;26811146;26933753;26934567;26934667;26992070;27846572;27920218;28467828;28832583;28904123;29242379;29314611;29317506;29393594;29493099;29508533;29557506;29632711;29741879;29786170;30046013;30315122;30429286;31611695;31844290;31848261;31875875;31937595;31998317;32157095;32350084;32357974;32387766;32502341;32857899;32897882;32938616;33141586;33298915;33912179;33968037;34171305;34211107;34349020;34357683;34405274;34509645;35051231;35154160;35251023;35318648;35362222;35494241;35561310;36096887;36330313;36543771;37074911;37358015;38200582;38247876;38253038;38359126;40596516;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7592670;7683646;7689487;8020465;8156598;8485124;8674110;8781553;8817670;8894645;8964575;9136889;9271389;9379936;9488713;9497324;9634703;9659902;9709957;9733769;9786878;9922210;9990022", "class_list": "", "function": "Enhancing Spns2/S1P in macrophages alleviates hyperinflammation and prevents immunosuppression in sepsis., [RefSeq, PubMed]; Hepatic glycogenesis antagonizes lipogenesis by blocking S1P via UDPG., [RefSeq, PubMed]; Serine protease that cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4: known substrates include SREBF1/SREBP1, SREBF2/SREBP2, BDNF, GNPTAB, ATF6, ATF6B and FAM20C (PubMed:10644685, PubMed:12782636, PubMed:21719679, PubMed:34349020). Cleaves substrates after Arg-Ser-Val-Leu (SREBP2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu (PubMed:10644685, PubMed:21719679). Catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:12782636). Also mediates the first step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) (PubMed:12782636). Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lysosomes (PubMed:21719679). Cleaves the propeptide from FAM20C which is required for FAM20C secretion from the Golgi apparatus membrane and for enhancement of FAM20C kinase activity, promoting osteoblast differentiation and biomineralization (PubMed:34349020). Involved in the regulation of M6P-dependent Golgi-to-lysosome trafficking of lysosomal enzymes (PubMed:21719679, PubMed:30046013). It is required for the activation of CREB3L2/BBF2H7, a transcriptional activator of MIA3/TANGO and other genes controlling mega vesicle formation (PubMed:30046013). Therefore, it plays a key role in the regulation of mega vesicle-mediated collagen trafficking (PubMed:30046013). Promotes FAD binding to the ETFA/ETFB complex and is therefore involved in mitochondrial respiratory chain regulation (PubMed:35362222). In astrocytes and osteoblasts, upon DNA damage and ER stress, mediates the first step of the regulated intramembrane proteolytic activation of the transcription factor CREB3L1, leading to the inhibition of cell-cycle progression (PubMed:16417584)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Targeting SPHK1/S1PR3-regulated S-1-P metabolic disorder triggers autophagic cell death in pulmonary lymphangiomyomatosis (LAM). Publication Status: Online-Only, [RefSeq, PubMed]; Targeting the SphK1/S1P/PFKFB3 axis suppresses hepatocellular carcinoma progression by disrupting glycolytic energy supply that drives tumor angiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 58, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 3, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "A8K6V8;Q24JQ2;Q9UF67", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "3.4.24.85", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.85", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "3.4.21.69", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.69", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.4.21.112", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.112", "type": "external" }, { "id": "3.1.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.98", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "2.4.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.145", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005739 mitochondrion;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006508 proteolysis;GO:0008203 cholesterol metabolic process;GO:0016485 protein processing;GO:0045540 regulation of cholesterol biosynthetic process;GO:0007040 lysosome organization", "synthesized_glycan_count": 0, "hit_score": 24.6, "record_id": "Q14703-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZE4-1", "uniprot_id": [ { "id": "GTPB4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZE4", "type": "external" } ], "mass": 73964.0, "length": 634, "protein_name": "GTP-binding protein 4", "gene_name": "GTPBP4", "organism": "Human", "refseq_name": "GTP-binding protein 4", "refseq_ac": [ { "id": "NP_036473", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036473", "type": "external" } ], "gene_names_uniprotkb": "GTPBP4; CRFG; NOG1", "gene_names_refseq": "CRFG; GTPBP4; NGB; NOG1", "protein_names_uniprotkb": "GTP-binding protein 4; Chronic renal failure gene protein; GTP-binding protein NGB; Nucleolar GTP-binding protein 1", "protein_names_refseq": "G protein-binding protein CRFG; GTP-binding protein 4; GTP-binding protein NGB; chronic renal failure gene protein; nucleolar GTP-binding protein 1", "tax_id": 9606, "disease": "end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:23560)", "pathway_count": 1, "publication_count": 114, "publication_id_list": "11237011;11316846;12429849;16385451;17081983;17210637;18669648;18691976;19007248;19415658;19608861;19651622;19690332;20068231;20308539;21406692;21993680;22424782;22898188;23186163;23481700;24714562;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26728094;26992070;27543614;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;29930882;30315122;30410026;30429286;30524438;30833945;31154438;31217245;31492838;31844290;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32522876;32669547;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34405274;34509645;34561969;34783233;35051231;35083852;35251023;35561310;35580925;36010968;36116159;36215666;36241641;36284347;36581221;37410776;37938771;38665916;40596516;40914422", "class_list": "", "function": "GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target. [provided by RefSeq, Jul 2008]., [RefSeq]; GTPBP4 promotes hepatocellular carcinoma progression and metastasis via the PKM2 dependent glucose metabolism., [RefSeq, PubMed]; Involved in the biogenesis of the 60S ribosomal subunit (PubMed:32669547). Acts as a TP53 repressor, preventing TP53 stabilization and cell cycle arrest (PubMed:20308539)., [UniProtKB, PubMed, PubMed]; LncRNA FGD5-AS1 functions as an oncogene to upregulate GTPBP4 expression by sponging miR-873-5p in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; NGB is a tumor suppressor that regulates and requires merlin to suppress cell proliferation, [RefSeq, PubMed]; NOG1 downregulates type I interferon production by targeting phosphorylated interferon regulatory factor 3. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KMC5;B4DY13;B7Z7A3;O95446;Q5T3R8;Q9NVJ8", "ec_number_list": [], "go_molecular_function": "GO:1990275 preribosome binding;GO:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0030336 negative regulation of cell migration;GO:0042273 ribosomal large subunit biogenesis;GO:0050821 protein stabilization;GO:0022408 negative regulation of cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q9BZE4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRR0-1", "uniprot_id": [ { "id": "ZKSC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRR0", "type": "external" } ], "mass": 60641.0, "length": 538, "protein_name": "Zinc finger protein with KRAB and SCAN domains 3", "gene_name": "ZKSCAN3", "organism": "Human", "refseq_name": "zinc finger protein with KRAB and SCAN domains 3 isoform 1", "refseq_ac": [ { "id": "NP_001229823", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229823", "type": "external" } ], "gene_names_uniprotkb": "ZKSCAN3; ZFP47; ZNF306; ZNF309; ZSCAN13", "gene_names_refseq": "ZF47; ZFP306; ZKSCAN3; ZNF306; ZNF309; ZSCAN13; ZSCAN35; Zfp47; dJ874C20.1.; dJ874C20.1; zfp-47", "protein_names_uniprotkb": "Zinc finger protein with KRAB and SCAN domains 3; Zf47; Zfp-47; Zinc finger and SCAN domain-containing protein 13; Zinc finger protein 306; Zinc finger protein 309; Zinc finger protein 47 homolog", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 13; zinc finger protein 306; zinc finger protein 309; zinc finger protein 47 homolog; zinc finger protein with KRAB and SCAN domains 3 isoform 1; zinc finger protein with KRAB and SCAN domains 3; zinc finger protein zfp47", "tax_id": 9606, "disease": "", "pathway": " (hsa:80317); (R-HSA-212436)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10235266;10330177;10520746;11395415;14519192;15175151;15896744;16606702;16719718;18519692;18940803;21057542;2163759;22531714;23186163;23434374;26992070;27397612;28832583;29393594;29437277;29557506;30484775;30979895;31844290;32157095;33968037;34171305;34654797;34685484;35779634;36215666;37175493;38671550;8183939;8769649;9637681;9653119", "class_list": "", "function": "CHD1L augments autophagy-mediated migration of hepatocellular carcinoma through targeting ZKSCAN3. Publication Status: Online-Only, [RefSeq, PubMed]; Context-dependent pro- and anti-resection roles of ZKSCAN3 in the regulation of fork processing during replication stress., [RefSeq, PubMed]; Effect of Lacking ZKSCAN3 on Autophagy, Lysosomal Biogenesis and Senescence. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of ZKSCAN3 protein suppresses proliferation, migration, and invasion of pancreatic cancer through autophagy., [RefSeq, PubMed]; Role of the Transcriptional Repressor Zinc Finger with KRAB and SCAN Domains 3 (ZKSCAN3) in Retinal Pigment Epithelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional factor that binds to the consensus sequence 5'-[GT][AG][AGT]GGGG-3' and acts as a repressor of autophagy. Specifically represses expression of genes involved in autophagy and lysosome biogenesis/function such as MAP1LC3B, ULK1 or WIPI2. Associates with chromatin at the ITGB4 and VEGF promoters. Also acts as a transcription activator and promotes cancer cell progression and/or migration in various tumors and myelomas., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; ZKSCAN3 adds to an expanding set of encoded products contributing to the progression of colorectal cancer, [RefSeq, PubMed]; ZKSCAN3 regulates the expression of several genes favoring tumor progression including integrin beta 4 and VEGF, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8W2;B3KVC0;H7BXX1;Q5VXH3;Q92972;Q9H4T3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9BRR0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWT3-1", "uniprot_id": [ { "id": "PAPOG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWT3", "type": "external" } ], "mass": 82803.0, "length": 736, "protein_name": "Poly(A) polymerase gamma", "gene_name": "PAPOLG", "organism": "Human", "refseq_name": "poly(A) polymerase gamma", "refseq_ac": [ { "id": "NP_075045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075045", "type": "external" } ], "gene_names_uniprotkb": "PAPOLG; PAP2; PAPG", "gene_names_refseq": "PAPOLG", "protein_names_uniprotkb": "Poly(A) polymerase gamma; 2.7.7.19; Neo-PAP; Neo-poly(A) polymerase; PAP-gamma; Polynucleotide adenylyltransferase gamma; SRP RNA 3'-adenylating enzyme; SRP RNA-adenylating enzyme; Signal recognition particle RNA-adenylating enzyme", "protein_names_refseq": "PAP-gamma; SRP RNA 3' adenylating enzyme/pap2; SRP RNA 3'-adenylating enzyme; SRP RNA-adenylating enzyme; neo-PAP; neo-poly(A) polymerase; nuclear poly(A) polymerase gamma; poly(A) polymerase gamma; polynucleotide adenylyltransferase gamma; signal recognition particle RNA-adenylating enzyme", "tax_id": 9606, "disease": "", "pathway": " (hsa:64895); (R-HSA-9770562); (R-HSA-9930044)", "pathway_count": 3, "publication_count": 92, "publication_id_list": "10669729;11060040;11237011;11287430;11431479;11463842;14749727;15037765;15565158;17128255;17174896;17412707;18220336;18288197;18452278;18669648;19217410;19413330;19690332;20068231;20513922;20695905;21295486;21705430;21855801;22813749;23186163;23874216;24076191;24149845;24366607;24715725;25301780;25301781;25576301;25578728;26992070;27129214;27434818;27600516;27846572;27862975;27871484;28096519;28228285;28832583;28904123;28911096;29186539;29242379;29274231;29298432;29437277;29557506;29632711;29906447;30139799;30257008;30315122;30410026;30833945;31092671;31154438;31530632;31844290;31848261;31950173;32157095;32161166;32357974;32387766;32816001;32897882;32938616;32983136;33298915;33767452;33913806;33968037;33981976;34087483;34171305;34509645;34561969;35051231;35177536;35580925;36010968;36241641;37875486;40307207;9659921", "class_list": "", "function": "An analysis of residue conservation reveals a conserved catalytic binding pocket, whereas residues at the surface of the polymerase are more divergent. GeneRIF: PAP gamma structurally closely resembles its PAP alpha ortholog. It possesses a conserved catalytic binding pocket, whereas residues at the surface of the polymerase are more divergent., [RefSeq, PubMed]; Arg(232) substitutions have no effect on independent Pol gammaA activities but show major defects in the Pol gammaA-Pol gammaB holoenzyme., [RefSeq, PubMed]; PAPgamma associates with PAXT nuclear exosome to control the abundance of PROMPT ncRNAs. Publication Status: Online-Only, [RefSeq, PubMed]; Responsible for the post-transcriptional adenylation of the 3'-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RBH4;Q59G05;Q969N1;Q9H8L2;Q9HAD0", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "2.7.7.52", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.52", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:1990817 poly(A) RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0016604 nuclear body", "go_biological_process": "GO:0006397 mRNA processing;GO:0031123 RNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q9BWT3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q504Q3-1", "uniprot_id": [ { "id": "PAN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q504Q3", "type": "external" } ], "mass": 135368.0, "length": 1202, "protein_name": "PAN2-PAN3 deadenylation complex catalytic subunit PAN2", "gene_name": "PAN2", "organism": "Human", "refseq_name": "PAN2-PAN3 deadenylation complex catalytic subunit PAN2 isoform 1", "refseq_ac": [ { "id": "NP_001120932", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120932", "type": "external" } ], "gene_names_uniprotkb": "PAN2; KIAA0710; USP52", "gene_names_refseq": "DEDCRF; PAN2; USP52", "protein_names_uniprotkb": "PAN2-PAN3 deadenylation complex catalytic subunit PAN2; 3.1.13.4; Inactive ubiquitin carboxyl-terminal hydrolase 52; PAB1P-dependent poly(A)-specific ribonuclease; PAN deadenylation complex subunit 2; Poly(A)-nuclease deadenylation complex subunit 2", "protein_names_refseq": "PAB-dependent poly(A)-specific ribonuclease subunit 2; PAB-dependent poly(A)-specific ribonuclease subunit PAN2; PAB1P-dependent poly(A)-nuclease; PAB1P-dependent poly(A)-specific ribonuclease; PABP-dependent poly(A) nuclease 2; PAN deadenylation complex catalytic subunit 2; PAN deadenylation complex subunit 2; PAN2 poly(A) specific ribonuclease subunit homolog; PAN2-PAN3 deadenylation complex catalytic subunit PAN2 isoform 1; PAN2-PAN3 deadenylation complex catalytic subunit PAN2; inactive ubiquitin carboxyl-terminal hydrolase 52; poly(A)-nuclease deadenylation complex subunit 2; ubiquitin specific peptidase 52; ubiquitin specific protease 52", "tax_id": 9606, "disease": "developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies (Disease Ontology:DOID:0070712)", "pathway": " (hsa:9924); (R-HSA-429947)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10637334;10882133;11237011;11283721;11889047;1355481;14583602;14715245;14749774;15475613;16141059;16284618;16959974;16964243;17052452;17245413;17595167;18625844;18669648;19239894;19413330;19558367;23186163;23398456;23481700;23932717;24366607;24715725;25480299;25576301;25892735;26375851;26992070;27600516;27846572;27920218;28218747;28228285;28559491;28832583;28834231;28904123;29242379;29437277;29557506;29599486;29620724;29632046;29769354;29786170;30315122;30379171;30429286;31530632;31844290;31848261;32157095;32357974;32502341;32897882;32938616;32983136;33097710;33298915;33912179;33936100;33968037;33981976;34087483;34171305;34533198;35051231;35154160;35304602;35561310;35580925;36010968;36284347;40491293;9099687", "class_list": "", "function": "Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies., [RefSeq, PubMed]; Catalytic subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenylation-dependent mRNA decaping and subsequent 5'-3' exonucleolytic degradation by XRN1. Also acts as an important regulator of the HIF1A-mediated hypoxic response. Required for HIF1A mRNA stability independent of poly(A) tail length regulation., [UniProtKB, PubMed, HAMAP, PubMed, PubMed]; HPan2 and hPan3 have roles in mRNA decay and exhibit cytoplasmic co-localization, [RefSeq, PubMed]; This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]; USP52 inhibits cell proliferation by stabilizing PTEN protein in non-small cell lung cancer., [RefSeq, PubMed]; USP52 is a bona fide ubiquitin-specific protease, and USP52 promotes ASF1A deubiquitination and stabilization. Publication Status: Online-Only, [RefSeq, PubMed]; USP52 regulates DNA end resection and chemosensitivity through removing inhibitory ubiquitination from CtIP. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O75189;Q76E12;Q8IVE1", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.13.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.4", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0003676 nucleic acid binding;GO:0000175 3'-5'-RNA exonuclease activity;GO:0004535 poly(A)-specific ribonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0000932 P-body;GO:0031251 PAN complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0010606 positive regulation of cytoplasmic mRNA processing body assembly;GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q504Q3-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWQ5-1", "uniprot_id": [ { "id": "LYZL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWQ5", "type": "external" } ], "mass": 16654.0, "length": 148, "protein_name": "Lysozyme-like protein 1", "gene_name": "LYZL1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LYZL1; LYC2; PRO1278", "gene_names_refseq": "", "protein_names_uniprotkb": "Lysozyme-like protein 1; 3.2.1.17", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:84569)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;12975309", "class_list": "glycogene;glycosylhydrolase", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 212, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5T921;Q8WW16", "ec_number_list": [], "go_molecular_function": "GO:0003796 lysozyme activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6UWQ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0L2-1", "uniprot_id": [ { "id": "MARK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0L2", "type": "external" } ], "mass": 89003.0, "length": 795, "protein_name": "Serine/threonine-protein kinase MARK1", "gene_name": "MARK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase MARK1 isoform 4", "refseq_ac": [ { "id": "NP_001273057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273057", "type": "external" } ], "gene_names_uniprotkb": "MARK1; KIAA1477; MARK", "gene_names_refseq": "MARK1; MARK; Par-1c; Par1c", "protein_names_uniprotkb": "Serine/threonine-protein kinase MARK1; 2.7.11.1; 2.7.11.26; MAP/microtubule affinity-regulating kinase 1; PAR1 homolog c; Par-1c; Par1c", "protein_names_refseq": "MAP/microtubule affinity-regulating kinase 1; PAR1 homolog c; serine/threonine-protein kinase MARK1 isoform 4; serine/threonine-protein kinase MARK1", "tax_id": 9606, "disease": "visual impairment and progressive phthisis bulbi (Disease Ontology:DOID:0070356); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:4139)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11089574;11237011;11433294;14517247;14976552;16803889;17344846;17573348;18220336;18492799;18669648;18691976;19559622;20071654;21145462;23666762;25880248;26154972;28904123;29557506;31217245;31281935;31844290;31848261;32157095;32161166;32357974;33141586;33298915;33912179;33981976;35051231;36215666;9108484", "class_list": "", "function": "Microtubule affinity regulating kinase 1 (MARK1) is a direct target of miR-23a in colorectal cancer (CRC) cells., [RefSeq, PubMed]; Serine/threonine-protein kinase (PubMed:23666762). Involved in cell polarity and microtubule dynamics regulation. Phosphorylates DCX, MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Involved in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Also acts as a positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of dishevelled proteins (DVL1, DVL2 and/or DVL3)., [UniProtKB, PubMed, PubMed, PubMed]; Serine/threonine-protein kinase. Involved in cell polarity and microtubule dynamics regulation. Phosphorylates DCX, MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU. Involved in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Also acts as a positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of dishevelled proteins (DVL1, DVL2 and/or DVL3)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 23, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DTB0;D3DTB1;Q2HIY1;Q5VTF9;Q5VTG0;Q96SW9;Q9P251", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0048156 tau protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0030425 dendrite", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:0035556 intracellular signal transduction;GO:0001764 neuron migration", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9P0L2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q17RY6-1", "uniprot_id": [ { "id": "LY6K_HUMAN", "url": "https://www.uniprot.org/uniprot/Q17RY6", "type": "external" } ], "mass": 18673.0, "length": 165, "protein_name": "Lymphocyte antigen 6K", "gene_name": "LY6K", "organism": "Human", "refseq_name": "lymphocyte antigen 6K isoform 3 precursor", "refseq_ac": [ { "id": "NP_001153827", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153827", "type": "external" } ], "gene_names_uniprotkb": "LY6K; CO16", "gene_names_refseq": "CT97; HSJ001348; LY6K; URLC10; ly-6K", "protein_names_uniprotkb": "Lymphocyte antigen 6K; Ly-6K", "protein_names_refseq": "cancer/testis antigen 97; lymphocyte antigen 6 complex, locus K; lymphocyte antigen 6K isoform 3 precursor; lymphocyte antigen 6K; up-regulated in lung cancer 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:54742); (R-HSA-163125)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10.1101/2023.09.13.557529;11072085;11237011;12516096;17784873;18089789;20237496;24398900;2443973;27072896;28393243;29242379;29568993;30791546;32500232;33235818;33674747;34019948;3422494;34980214;35254053;36215666;36805500;37076981;38469708;40596516", "class_list": "", "function": "Data show that TTK protein kinase, lymphocyte antigen 6 complex locus K and insulin-like growth factor (IGF)-II mRNA binding protein 3 are tumor-associated antigens recognized by cytotoxic T lymphocytes and HLA-A24-restricted epitope peptides., [RefSeq, PubMed]; Down-regulation of ZNF252P-AS1 alleviates ovarian cancer progression by binding miR-324-3p to downregulate LY6K. Publication Status: Online-Only, [RefSeq, PubMed]; LY6K depletion modulates TGF-beta and EGF signaling., [RefSeq, PubMed]; LY6K-AS lncRNA is a lung adenocarcinoma prognostic biomarker and regulator of mitotic progression., [RefSeq, PubMed]; Lymphocyte antigen 6K signaling to aurora kinase promotes advancement of the cell cycle and the growth of cancer cells, which is inhibited by LY6K-NSC243928 interaction., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required for sperm migration into the oviduct and male fertility by controlling binding of sperm to zona pellucida (By similarity). May play a role in cell growth (PubMed:18089789)., [UniProtKB, UniProtKB, PubMed]; Upregulation of LY6K induced by FTO-mediated demethylation promotes the tumorigenesis and metastasis of oral squamous cell carcinoma via CAV-1-mediated ERK1/2 signaling activation., [RefSeq, PubMed]; Useful as a tumor biomarker and probably as a target for the development of new molecular therapies for cancer treatment., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "G3V116;O15227;Q9BVD7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0001669 acrosomal vesicle;GO:0098552 side of membrane", "go_biological_process": "GO:0007339 binding of sperm to zona pellucida", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q17RY6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43439-1", "uniprot_id": [ { "id": "MTG8R_HUMAN", "url": "https://www.uniprot.org/uniprot/O43439", "type": "external" } ], "mass": 67133.0, "length": 604, "protein_name": "Protein CBFA2T2", "gene_name": "CBFA2T2", "organism": "Human", "refseq_name": "protein CBFA2T2 isoform MTGR1c", "refseq_ac": [ { "id": "NP_001028171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171", "type": "external" } ], "gene_names_uniprotkb": "CBFA2T2; EHT; MTGR1", "gene_names_refseq": "CBFA2T2; EHT; MTGR1; ZMYND3; p85", "protein_names_uniprotkb": "Protein CBFA2T2; ETO homologous on chromosome 20; MTG8-like protein; MTG8-related protein 1; Myeloid translocation-related protein 1; p85", "protein_names_refseq": "CBFA2/RUNX1 translocation partner 2; ETO homolog on chromosome 20; ETO homologous on chromosome 20; MTG8-like protein; MTG8-related protein 1; core-binding factor, runt domain, alpha subunit 2; myeloid translocation gene-related protein 1; myeloid translocation-related protein 1; protein CBFA2T2 isoform MTGR1c; protein CBFA2T2; translocated to, 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9139); (R-HSA-9827857)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10675041;12242670;12559562;14703694;15203199;15302935;16616331;19651622;19664994;19664995;20068231;20520637;23186163;23251453;23481700;24715725;25543152;25880248;26115422;26189426;26992070;27281218;28832583;28834231;28985527;29091993;29242379;29493099;29508533;29557506;29713018;29786170;30315122;30429286;30590035;31217245;31844290;31848261;32127035;32157095;32161166;32357974;32387766;32703401;32897882;32938616;32983136;33470497;33592498;33608411;33912179;33968037;33981976;34065661;35051231;35411086;35561310;36010968;39531497;9447981;9787195;9790752", "class_list": "", "function": "CBFA2T2 forms a biochemical complex with PRDM14, a germline-specific transcription factor; mechanistically, CBFA2T2 oligomerizes to form a scaffold upon which PRDM14 and OCT4 are stabilized on chromatin, [RefSeq, PubMed]; CBFA2T2 promotes adipogenic differentiation of mesenchymal stem cells by regulating CEBPA., [RefSeq, PubMed]; In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency (PubMed:27281218). Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner (By similarity). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 (AML1-MTG8/ETO fusion protein) which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G-CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RAE6;F8W6D7;Q5TGE4;Q5TGE5;Q5TGE6;Q5TGE7;Q8IWF3;Q96B06;Q96L00;Q9H436;Q9UJP8;Q9UJP9;Q9UP24", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0010976 positive regulation of neuron projection development;GO:0045892 negative regulation of DNA-templated transcription;GO:0010977 negative regulation of neuron projection development;GO:0045746 negative regulation of Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "O43439-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00653-1", "uniprot_id": [ { "id": "NFKB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00653", "type": "external" } ], "mass": 96749.0, "length": 900, "protein_name": "Nuclear factor NF-kappa-B p100 subunit", "gene_name": "NFKB2", "organism": "Human", "refseq_name": "nuclear factor NF-kappa-B p100 subunit isoform a", "refseq_ac": [ { "id": "NP_001070962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070962", "type": "external" } ], "gene_names_uniprotkb": "NFKB2; LYT10", "gene_names_refseq": "CVID10; H2TF1; LYT-10; LYT10; NF-kB2; NFKB2; p100; p49/p100; p52", "protein_names_uniprotkb": "Nuclear factor NF-kappa-B p100 subunit; DNA-binding factor KBF2; H2TF1; Lymphocyte translocation chromosome 10 protein; Lyt10; Nuclear factor of kappa light polypeptide gene enhancer in B-cells 2; Oncogene Lyt-10", "protein_names_refseq": "DNA-binding factor KBF2; NFKB, p52/p100 subunit; lymphocyte translocation chromosome 10 protein; nuclear factor Kappa-B, subunit 2; nuclear factor NF-kappa-B p100 subunit isoform a; nuclear factor NF-kappa-B p100 subunit; nuclear factor NF-kappa-B p52 subunit; nuclear factor of Kappa light chain gene enhancer in B cells 2; nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100); oncogene Lyt-10; transcription factor NFKB2", "tax_id": 9606, "disease": "opportunistic bacterial infectious disease (Disease Ontology:DOID:0050340); Parkinsonism (Disease Ontology:DOID:0080855); common variable immunodeficiency 10 (Disease Ontology:DOID:0081152); common variable immunodeficiency (Disease Ontology:DOID:12177); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:4791); (R-HSA-1810476); (R-HSA-3134963); (R-HSA-3214841); (R-HSA-445989); (R-HSA-448706); (R-HSA-4755510); (R-HSA-5603029); (R-HSA-5607761); (R-HSA-5676590); (R-HSA-844456); (R-HSA-933542); (R-HSA-9660826); (R-HSA-9909649)", "pathway_count": 14, "publication_count": 242, "publication_id_list": "10597218;10723127;10949293;11073981;11124955;11157473;11239468;11313357;11498534;11520989;11526476;11786556;11959841;11967258;12123582;12130538;12191486;12221085;12453418;12540855;12615073;12670868;14523047;14536086;14595024;14651848;14676825;14690610;14761955;14992727;15140882;15145317;15145825;15235609;1531086;15337789;15340381;1574116;15964846;16056267;16115877;16118227;16199523;16292313;16303288;16477006;16519522;16682010;16805913;16906147;17021013;17036048;17047224;17349957;17435760;17500065;17544230;17603038;1760839;17641058;17697703;17703304;17707229;17728323;18172012;18412279;18462684;18617892;18669648;1876189;18941233;19088198;19122653;19297320;19570822;19590578;19666475;19808676;19917778;20023662;20043992;20068231;20188669;20303873;20501935;20696886;21131967;21196496;21779408;2182768;21832073;22078572;22099308;22424782;22645359;22649547;22718757;22939622;23186163;23301498;23708964;23817414;23878142;24140114;24366607;24714562;24715725;25074923;25218447;25418920;25502872;25524009;25576301;25880248;26024233;26116704;26154972;26375851;26549800;26768311;26811146;26992070;27600516;27701768;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28510447;28649982;28832583;28834231;28860189;28904123;29070839;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29712950;29769354;29786170;29789417;30315122;30385408;30410026;30429286;30484775;30779550;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32183950;32265295;32350084;32357974;32387766;32488085;32502341;32860047;32897882;32938616;32983136;33091337;33123756;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34185709;34211107;34357683;34433824;34509645;34561969;34932366;35051231;35132862;35154160;35561310;35580925;35705054;36010968;36215666;36241641;36284347;37217939;37816088;37938771;39278618;40914422;450099;7541912;7925301;7949142;7969113;8036016;8044845;8152812;8360178;8453667;8706131;8887665;8921937;8999548;9008162;9023774;9121587;9315679;9346238;9384586;9520446;9689078;9734360;9742107;9865693", "class_list": "", "function": "NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. In a non-canonical activation pathway, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes. The NF-kappa-B heterodimeric RelB-p52 complex is a transcriptional activator. The NF-kappa-B p52-p52 homodimer is a transcriptional repressor. NFKB2 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p100 and generation of p52 by a cotranslational processing. The proteasome-mediated process ensures the production of both p52 and p100 and preserves their independent function. p52 binds to the kappa-B consensus sequence 5'-GGRNNYYCC-3', located in the enhancer region of genes involved in immune response and acute phase reactions. p52 and p100 are respectively the minor and major form; the processing of p100 being relatively poor. Isoform p49 is a subunit of the NF-kappa-B protein complex, which stimulates the HIV enhancer in synergy with p65. In concert with RELB, regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer., [UniProtKB, PubMed]; This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]., [RefSeq]; Unconventional p65/p52 NF-kappaB module regulates key tumor microenvironment-related genes in breast tumor-associated macrophages (TAMs)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 25, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K9D9;D3DR83;Q04860;Q9BU75;Q9H471;Q9H472", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0032496 response to lipopolysaccharide;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0034097 response to cytokine", "synthesized_glycan_count": 0, "hit_score": 24.7, "record_id": "Q00653-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FC7-1", "uniprot_id": [ { "id": "PHIPL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FC7", "type": "external" } ], "mass": 42486.0, "length": 376, "protein_name": "Phytanoyl-CoA hydroxylase-interacting protein-like", "gene_name": "PHYHIPL", "organism": "Human", "refseq_name": "phytanoyl-CoA hydroxylase-interacting protein-like isoform 2", "refseq_ac": [ { "id": "NP_001137246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137246", "type": "external" } ], "gene_names_uniprotkb": "PHYHIPL; KIAA1796; PRO20934", "gene_names_refseq": "PHYHIPL", "protein_names_uniprotkb": "Phytanoyl-CoA hydroxylase-interacting protein-like", "protein_names_refseq": "phytanoyl-CoA hydroxylase-interacting protein-like isoform 2; phytanoyl-CoA hydroxylase-interacting protein-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:84457)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11230166;12975309;16385451;20877624;28228285;28657654;29393594;29557506;30962415;31154438;31844290;33712038;35051231", "class_list": "", "function": "May play a role in the development of the central system., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Protein-protein interactions (PPI) net indicated that PHYHIPL may play a vital role in cell metabolism, and authors hypothesize that the downregulation mechanism may be the result of mutations of the ss-catenin gene and the endogenous siRNA, as shown in previous studies. Publication Status: Online-Only, [RefSeq, PubMed]; The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7WP61;Q68DF3;Q6UXY3;Q8N3W3;Q96JM9;Q96NP7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q96FC7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUE0-1", "uniprot_id": [ { "id": "TF2LY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUE0", "type": "external" } ], "mass": 20814.0, "length": 185, "protein_name": "Homeobox protein TGIF2LY", "gene_name": "TGIF2LY", "organism": "Human", "refseq_name": "homeobox protein TGIF2LY", "refseq_ac": [ { "id": "NP_631960", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_631960", "type": "external" } ], "gene_names_uniprotkb": "TGIF2LY; TGIFLY", "gene_names_refseq": "TGIF2LY; TGIFLY", "protein_names_uniprotkb": "Homeobox protein TGIF2LY; TGF-beta-induced transcription factor 2-like protein; TGFB-induced factor 2-like protein, Y-linked; TGIF-like on the Y", "protein_names_refseq": "TGF-beta-induced transcription factor 2-like protein; TGFB-induced factor 2-like protein, Y-linked; TGFB-induced factor 2-like, Y-linked; TGIF-like on the Y; homeobox protein TGIF2LY", "tax_id": 9606, "disease": "", "pathway": " (hsa:90655)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12226713;18384077;18663611;28904123", "class_list": "", "function": "Association of TGIFLX/Y mRNA expression with azoospermia in infertile men.(, [RefSeq, PubMed]; May have a transcription role in testis. May act as a competitor/regulator of TGIF2LX., [UniProtKB]; Most prostate tumors (73.5%) express at least one of these genes (TGIFLX and TGIFLY), although different patterns of mRNA expression were observed. These results suggest an association of TGIFLX/Y expression with the progression of prostate cancer., [RefSeq, PubMed]; This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. This gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. The C-terminus of this protein is divergent from that of its chromosome X homolog (TGIF2LX), suggesting that this protein may act as a regulator of TGIF2LX. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2VCU1", "ec_number_list": [], "go_molecular_function": "GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8IUE0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2T0-1", "uniprot_id": [ { "id": "SPMA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2T0", "type": "external" } ], "mass": 43444.0, "length": 379, "protein_name": "Sperm microtubule associated protein 2", "gene_name": "SPMAP2", "organism": "Human", "refseq_name": "sperm microtubule associated protein 2 isoform 1", "refseq_ac": [ { "id": "NP_057669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057669", "type": "external" } ], "gene_names_uniprotkb": "SPMAP2; THEG", "gene_names_refseq": "CT56; SPMAP2; THEG1; THEG", "protein_names_uniprotkb": "Sperm microtubule associated protein 2; CT56; Cancer/testis antigen 56; Testicular haploid expressed gene protein", "protein_names_refseq": "Theg homolog; cancer/testis antigen 56; sperm microtubule associated protein 2 isoform 1; testicular haploid expressed gene protein; testis-specific; theg spermatid protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51298)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10747865;11173852;11237011;12748127;28904123;29557506;29786170;32938616;35051231", "class_list": "", "function": "Functional analysis of the mouse counterpart., [RefSeq, PubMed, PubMed]; May be involved (but not essential) in spermatogenesis., [UniProtKB, UniProtKB]; This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-complex protein 1 subunit epsilon. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NMJ8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0051131 chaperone-mediated protein complex assembly", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9P2T0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15021-5", "uniprot_id": [ { "id": "MAST4_HUMAN", "url": "https://www.uniprot.org/uniprot/O15021", "type": "external" } ], "mass": 284097.0, "length": 2623, "protein_name": "Microtubule-associated serine/threonine-protein kinase 4", "gene_name": "MAST4", "organism": "Human", "refseq_name": "microtubule-associated serine/threonine-protein kinase 4 isoform 6", "refseq_ac": [ { "id": "NP_001277157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277157", "type": "external" } ], "gene_names_uniprotkb": "MAST4; KIAA0303", "gene_names_refseq": "MAST4", "protein_names_uniprotkb": "Microtubule-associated serine/threonine-protein kinase 4; 2.7.11.1", "protein_names_refseq": "microtubule-associated serine/threonine-protein kinase 4 isoform 6; microtubule-associated serine/threonine-protein kinase 4", "tax_id": 9606, "disease": "Sertoli cell-only syndrome (Disease Ontology:DOID:0050457)", "pathway": " (hsa:375449)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "10.1101/2023.09.13.557529;17086981;17344846;22360420;23186163;24275569;27600516;27862975;27920218;28228285;28832583;29242379;29493099;29508533;29557506;29632711;29786170;29948376;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32938616;32983136;33219327;33298915;33592498;33968037;33981976;34509645;34561969;35051231;35064934;35254053;35494241;35580925;36010968;36241641;36284347;37938771;38612866;38945953", "class_list": "", "function": "A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration., [RefSeq, PubMed]; Estrogen-Responsive Gene MAST4 Regulates Myeloma Bone Disease., [RefSeq, PubMed]; High expression level of MAST4 in most normal human tissues, with an exception of in testis, small intestine, colon and peripheral blood leukocyte., [RefSeq, PubMed]; MAST4 regulates stem cell maintenance with DLX3 for epithelial development and amelogenesis., [RefSeq, PubMed]; Mast4 knockout shows the regulation of spermatogonial stem cell self-renewal via the FGF2/ERM pathway., [RefSeq, PubMed]; Molecular studies incriminated different genes, mainly CACNA1H and MAST4. Since at least 2 susceptibility genes were likely shared by different populations, genetic factors involved in the majority of Tunisian Genetic generalized epilepsies families remain to be discovered., [RefSeq, PubMed]; Nuclear MAST4 Suppresses FOXO3 through Interaction with AKT3 and Induces Chemoresistance in Pancreatic Ductal Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 0, "predicted_o_glycosites": 6, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NL49;B5ME48;E7EWQ5;J3QT34;Q05EE6;Q6ZN07;Q8N4X4;Q96LY3", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0007010 cytoskeleton organization;GO:0032502 developmental process", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O15021-5", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KR4-1", "uniprot_id": [ { "id": "LMLN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KR4", "type": "external" } ], "mass": 72740.0, "length": 647, "protein_name": "Leishmanolysin-like peptidase", "gene_name": "LMLN", "organism": "Human", "refseq_name": "leishmanolysin-like peptidase isoform 1 precursor", "refseq_ac": [ { "id": "NP_001129521", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129521", "type": "external" } ], "gene_names_uniprotkb": "LMLN", "gene_names_refseq": "GP63; INV; IX14; LMLN; LMNL1; MSP", "protein_names_uniprotkb": "Leishmanolysin-like peptidase; 3.4.24.-; Invadolysin", "protein_names_refseq": "invadolysin; leishmanolysin-2; leishmanolysin-like (metallopeptidase M8 family); leishmanolysin-like peptidase isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:89782)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;15557119;19706689;25892735;27600516;29632046;32161166;33592498;33609405", "class_list": "", "function": "Functional characterization of a similar protein in Drosophila and comparative studies with the human protein., [RefSeq, PubMed]; Immunofluorescent detection of human invadolysin in cultured cells reveals the protein to be associated with the surface of lipid droplets., [RefSeq, PubMed]; Metalloprotease., [UniProtKB, UniProtKB]; MiR-17-3p promotes the proliferation of multiple myeloma cells by downregulating P21 expression through LMLN inhibition., [RefSeq, PubMed]; This gene encodes a zinc-metallopeptidase. The encoded protein may play a role in cell migration and invasion. Studies of a similar protein in Drosophila indicate a potential role in mitotic progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3LDG9;B3LDH0;C9J796;F8WB28;Q96KR5", "ec_number_list": [], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0008233 peptidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007155 cell adhesion;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q96KR4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SRI9-1", "uniprot_id": [ { "id": "MANEA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SRI9", "type": "external" } ], "mass": 53671.0, "length": 462, "protein_name": "Glycoprotein endo-alpha-1,2-mannosidase", "gene_name": "MANEA", "organism": "Human", "refseq_name": "glycoprotein endo-alpha-1,2-mannosidase", "refseq_ac": [ { "id": "NP_078917", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078917", "type": "external" } ], "gene_names_uniprotkb": "MANEA", "gene_names_refseq": "ENDO; MANEA; hEndo", "protein_names_uniprotkb": "Glycoprotein endo-alpha-1,2-mannosidase; 3.2.1.130; Endo-alpha mannosidase; Endomannosidase; Mandaselin; hEndo", "protein_names_refseq": "alpha 1,2-endomannosidase; endo-alpha mannosidase; glycoprotein endo-alpha-1,2-mannosidase; mandaselin", "tax_id": 9606, "disease": "anxiety disorder (Disease Ontology:DOID:2030); panic disorder (Disease Ontology:DOID:594); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:79694); (R-HSA-964739)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10.1038/emboj.2013.79;11237011;15677381;15760709;16959974;1702225;1827260;18438686;19255376;2165493;23584533;24473444;25576301;25892735;26154972;26992070;27846572;27920218;28218747;28228285;28467828;28832583;29242379;29437277;29493099;29632711;29769354;30315122;30429286;31020640;31092671;31611695;31844290;32157095;32161166;32350084;32357974;32502341;33298915;3346233;33537174;33592498;33717175;33936100;34171305;34185709;35251023;35580925;36010968;37938771;39894887;40307207", "class_list": "glycogene;glycosylhydrolase", "function": "Association of variants in MANEA with cocaine related behavior is established. GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; MANEA plays a role in anxiety disorders. Publication Status: Online-Only, [RefSeq, PubMed]; N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; We have cloned two novel endomannosidase sequences from rat and human cDNA libraries [and] confirm that endomannosidase is a type II membrane protein, like the majority of other secretory pathway glycosylation enzymes, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 597, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A6H8M6;Q5SRJ0;Q6MZV0;Q70JE9;Q7Z3V7;Q8WWX5;Q9H9D2", "ec_number_list": [ { "id": "3.2.1.130", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.130", "type": "external" } ], "go_molecular_function": "GO:0004559 alpha-mannosidase activity;GO:0004569 glycoprotein endo-alpha-1,2-mannosidase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q5SRI9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEW8-1", "uniprot_id": [ { "id": "PAR3L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEW8", "type": "external" } ], "mass": 132494.0, "length": 1205, "protein_name": "Partitioning defective 3 homolog B", "gene_name": "PARD3B", "organism": "Human", "refseq_name": "partitioning defective 3 homolog B isoform Par3La", "refseq_ac": [ { "id": "NP_001289698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289698", "type": "external" } ], "gene_names_uniprotkb": "PARD3B; ALS2CR19; PAR3B; PAR3L", "gene_names_refseq": "ALS2CR19; PAR3B; PAR3L; PAR3beta; PARD3B", "protein_names_uniprotkb": "Partitioning defective 3 homolog B; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein; PAR3-L protein; PAR3-beta; Partitioning defective 3-like protein", "protein_names_refseq": "PAR3-L protein; amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein; par-3 partitioning defective 3 homolog B; partitioning defective 3 homolog B isoform Par3La; partitioning defective 3 homolog B; partitioning defective 3-like protein; partitioning-defective 3-beta", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037)", "pathway": " (hsa:117583)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11586298;12234671;12459187;15721295;16458856;21406692;23186163;24275569;25576301;25645385;27846572;29331515;29393594;29557506;29786170;31844290;32157095;32938616;33537174;33565714;33968037;34185709;35051231;35580925;36010968;36284347;37391589;37938771", "class_list": "", "function": "Binding of 14-3-3 to Par3beta is dependent on phosphorylation, [RefSeq, PubMed]; PAR3beta, expressed intrinsically or extrinsically, localizes to the tight junctions, indicating that the localization does not require the ternary complex formation., [RefSeq, PubMed]; Par-3 family proteins in cell polarity & adhesion. Review article, [RefSeq, PubMed]; Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions., [UniProtKB]; VIRMA facilitates intrahepatic cholangiocarcinoma progression through epigenetic augmentation of TMED2 and PARD3B mRNA stabilization., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "E9PE87;Q8IUC7;Q8IUC9;Q96DK9;Q96N09;Q96NX6;Q96NX7;Q96Q29", "ec_number_list": [], "go_molecular_function": "GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005912 adherens junction;GO:0005923 bicellular tight junction;GO:0005938 cell cortex;GO:0030054 cell junction;GO:0012505 endomembrane system", "go_biological_process": "GO:0007155 cell adhesion;GO:0051301 cell division;GO:0008104 intracellular protein localization;GO:0000226 microtubule cytoskeleton organization;GO:0030010 establishment of cell polarity", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8TEW8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15937-1", "uniprot_id": [ { "id": "ZNF79_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15937", "type": "external" } ], "mass": 55350.0, "length": 498, "protein_name": "Zinc finger protein 79", "gene_name": "ZNF79", "organism": "Human", "refseq_name": "zinc finger protein 79 isoform a", "refseq_ac": [ { "id": "NP_009066", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009066", "type": "external" } ], "gene_names_uniprotkb": "ZNF79", "gene_names_refseq": "ZNF79; pT7", "protein_names_uniprotkb": "Zinc finger protein 79; ZNFpT7", "protein_names_refseq": "ZNFpT7; zinc finger protein 79 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:7633); (R-HSA-212436)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;19851296;20198315;2163759;28228285;31844290;32157095;35051231;39894887;8183939;8478004;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VVW1;Q96NV1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q15937-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VZF2-1", "uniprot_id": [ { "id": "MBNL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VZF2", "type": "external" } ], "mass": 40518.0, "length": 373, "protein_name": "Muscleblind-like protein 2", "gene_name": "MBNL2", "organism": "Human", "refseq_name": "muscleblind-like protein 2 isoform 4", "refseq_ac": [ { "id": "NP_001292999", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001292999", "type": "external" } ], "gene_names_uniprotkb": "MBNL2; MBLL39; MBLL; MLP1", "gene_names_refseq": "MBLL39; MBLL; MBNL2; PRO2032", "protein_names_uniprotkb": "Muscleblind-like protein 2; Muscleblind-like protein 1; Muscleblind-like protein-like 39; Muscleblind-like protein-like", "protein_names_refseq": "muscleblind-like 2; muscleblind-like protein 1; muscleblind-like protein 2 isoform 4; muscleblind-like protein 2; muscleblind-like protein-like 39", "tax_id": 9606, "disease": "myotonic dystrophy type 2 (Disease Ontology:DOID:0050759); myotonic dystrophy type 1 (Disease Ontology:DOID:11722); dilated cardiomyopathy (Disease Ontology:DOID:12930); myotonic disease (Disease Ontology:DOID:450)", "pathway": " (hsa:10150)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;11929853;15257297;16273094;16946708;19177353;25505266;25576301;25645385;25892735;26154972;26992070;27846572;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29632046;29769354;29786170;29946070;30315122;30379171;30429286;31092671;31844290;32127384;32157095;32357974;32387766;32488085;32652860;32897882;32938616;33214551;33392160;33466733;33537174;33592498;34019948;34185709;35051231;35580925;36010968;36241641;38665916", "class_list": "", "function": "Functional depletion of the alternative splicing factors Muscleblind-like (MBNL 1 and 2) is at the basis of the neuromuscular disease myotonic dystrophy type 1 (DM1). Here, we screen for miRNAs that regulate MBNL1 and MBNL2 in HeLa cells. We thus identify miR-23b and miR-218, and confirm that they downregulate MBNL proteins in this cell line. Publication Status: Online-Only, [RefSeq, PubMed]; MBNL proteins promote opposite splicing patterns for cardiac troponin T and insulin receptor alternative exons, [RefSeq, PubMed]; MBNL2 Regulates DNA Damage Response via Stabilizing p21. Publication Status: Online-Only, [RefSeq, PubMed]; MBNL2 induction was critical for hypoxia adaptation by controlling the transcript abundance of hypoxia response genes, such as vascular endothelial growth factor A (VEGFA) MBNL2 depletion reduced the proliferation and migration of cancer cells, demonstrating an important role of MBNL2 as cancer driver., [RefSeq, PubMed]; Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5'ACACCC-3' core sequence, termed zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Together with RNA binding proteins RBPMS and RBFOX2, activates vascular smooth muscle cells alternative splicing events (By similarity). Regulates NCOR2 alternative splicing (By similarity). Seems to regulate expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population., [RefSeq, PubMed]; This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q3SXY5;Q58F19;Q8NEV3;Q8TD82", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005634 nucleus", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q5VZF2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68DH5-1", "uniprot_id": [ { "id": "LMBD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68DH5", "type": "external" } ], "mass": 81172.0, "length": 695, "protein_name": "G protein-coupled receptor-associated protein LMBRD2", "gene_name": "LMBRD2", "organism": "Human", "refseq_name": "G-protein coupled receptor-associated protein LMBRD2", "refseq_ac": [ { "id": "NP_001007528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007528", "type": "external" } ], "gene_names_uniprotkb": "LMBRD2", "gene_names_refseq": "DENBA; LMBRD2", "protein_names_uniprotkb": "G protein-coupled receptor-associated protein LMBRD2; LMBR1 domain-containing protein 2", "protein_names_refseq": "G-protein coupled receptor-associated protein LMBRD2; LMBR1 domain-containing protein 2", "tax_id": 9606, "disease": "developmental delay with variable neurologic and brain abnormalities (MONDO:MONDO:0859218)", "pathway": " (hsa:92255)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;18691976;23186163;23584533;25813380;25892735;26992070;28218747;28388415;28904123;29242379;29314611;29393594;29437277;29493099;29557506;29769354;29786170;31092671;31844290;32157095;32161166;32357974;32387766;32502341;32820033;32938616;32983136;33123756;33592498;33936100;33968037;34357683;34561969;35251023;35580925;36010968;36215666", "class_list": "", "function": "De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features., [RefSeq, PubMed]; Recruited to ligand-activated beta-2 adrenergic receptor/ADRB2, it negatively regulates the adrenergic receptor signaling pathway (PubMed:28388415). May also regulate other G protein coupled receptors including type-1 angiotensin II receptor/AGTR1 (Probable)., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3KRB6;Q9NTC7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0071875 adrenergic receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q68DH5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZN28-1", "uniprot_id": [ { "id": "MACC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZN28", "type": "external" } ], "mass": 96639.0, "length": 852, "protein_name": "Metastasis-associated in colon cancer protein 1", "gene_name": "MACC1", "organism": "Human", "refseq_name": "metastasis-associated in colon cancer protein 1", "refseq_ac": [ { "id": "NP_877439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_877439", "type": "external" } ], "gene_names_uniprotkb": "MACC1", "gene_names_refseq": "7A5; MACC1; SH3BP4L", "protein_names_uniprotkb": "Metastasis-associated in colon cancer protein 1; SH3 domain-containing protein 7a5", "protein_names_refseq": "MACC1, MET transcriptional regulator; SH3 domain-containing protein 7a5; metastasis associated in colon cancer 1; metastasis-associated in colon cancer protein 1; putative binding protein 7a5", "tax_id": 9606, "disease": "cervical cancer (Disease Ontology:DOID:4362)", "pathway": " (hsa:346389)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "19098908;19499089;19556890;19787327;19807924;22424782;23186163;23481700;24714562;24715725;25576301;26154972;26375851;26728094;26992070;28218747;28228285;28514659;28832583;28834231;29242379;29437277;29557506;29786170;30315122;31217245;31844290;31937595;31998317;32350084;32502341;32897882;32983136;33141586;33298915;33691108;33936100;34087483;34211107;34932366;35014688;35051231;35103833;35242498;35580925;35597866;36284347;38141772", "class_list": "", "function": "Acts as a transcription activator for MET and as a key regulator of HGF-MET signaling. Promotes cell motility, proliferation and hepatocyte growth factor (HGF)-dependent scattering in vitro and tumor growth and metastasis in vivo., [UniProtKB, PubMed]; COX19 Is a New Target of MACC1 and Promotes Colorectal Cancer Progression by Regulating Copper Transport in Mitochondria., [RefSeq, PubMed]; Calcium-binding protein S100P is a new target gene of MACC1, drives colorectal cancer metastasis and serves as a prognostic biomarker., [RefSeq, PubMed]; Circ_0002577/miR-126-5p/MACC1 axis promotes endometrial carcinoma progression by regulation of proliferation, migration, invasion, and apoptosis of endometrial carcinoma cells., [RefSeq, PubMed]; MACC1 acts via a specific consensus sequence of the Met promoter, described as an Sp1 binding site., [RefSeq, PubMed]; MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009]., [RefSeq]; Obesity, colorectal cancer and MACC1 expression: A possible novel molecular association., [RefSeq, PubMed]; Study revealed MACC1 protein consists of 4 domains: ZU5, SH3 & 2 C-terminal death domains; bioinformatic analysis indicates MACC1, besides its involvement in signal transduction from the MET receptor, links MET signaling & apoptosis, [RefSeq, PubMed]; Summarized are MACC1 genomic localization and organization, its predicted splice variants, and single nucleotide polymorphisms, predicted expressions of MACC1 in normal and malignant human tissues. Review article, [RefSeq, PubMed]; The Relationship between MACC1/c-Met/Cyclin D1 Axis Expression and Prognosis in ESCC. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MUS5;B2RNR9;Q6ZQN8;Q7Z5A5", "ec_number_list": [], "go_molecular_function": "GO:0008083 growth factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051781 positive regulation of cell division", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q6ZN28-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NAA5-1", "uniprot_id": [ { "id": "LR75A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NAA5", "type": "external" } ], "mass": 37780.0, "length": 344, "protein_name": "Leucine-rich repeat-containing protein 75A", "gene_name": "LRRC75A", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 75A isoform 1", "refseq_ac": [ { "id": "NP_001107039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107039", "type": "external" } ], "gene_names_uniprotkb": "LRRC75A; C17orf76; FAM211A", "gene_names_refseq": "C17orf76; FAM211A; LRRC75A", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 75A; Leucine-rich repeat-containing protein FAM211A", "protein_names_refseq": "family with sequence similarity 211, member A; leucine-rich repeat-containing protein 75A isoform 1; leucine-rich repeat-containing protein 75A; leucine-rich repeat-containing protein C17orf76; leucine-rich repeat-containing protein FAM211A", "tax_id": 9606, "disease": "", "pathway": " (hsa:388341)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "29351928;32157095;32983136;33968037;37263619", "class_list": "", "function": "Single-Cell RNA-Seq Reveals LRRC75A-Expressing Cell Population Involved in VEGF Secretion of Multipotent Mesenchymal Stromal/Stem Cells Under Ischemia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NAA5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHZ7-1", "uniprot_id": [ { "id": "MB3L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHZ7", "type": "external" } ], "mass": 22994.0, "length": 208, "protein_name": "Methyl-CpG-binding domain protein 3-like 2", "gene_name": "MBD3L2", "organism": "Human", "refseq_name": "methyl-CpG-binding domain protein 3-like 2", "refseq_ac": [ { "id": "NP_653215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653215", "type": "external" } ], "gene_names_uniprotkb": "MBD3L2", "gene_names_refseq": "MBD3L2", "protein_names_uniprotkb": "Methyl-CpG-binding domain protein 3-like 2; MBD3-like protein 2", "protein_names_refseq": "CTB-25J19.1; MBD3-like protein 2; methyl-CpG-binding domain protein 3-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:125997); (R-HSA-9937850)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "12183469;12504854;15456747;15516265;15643425;15701600;16415179;16428440;16707490;18571423;20523938;21490301;22398447;23239876;23361464;24252660;24307175;24385926;24554700;24920672;25753662;26769901;27732854;27806305;28533432;28977666;30122475;30228260;30327463;30980593;33264408;33283408;9427644;9804427;9885572", "class_list": "", "function": "MBD3L2 interacts with MBD3 and components of the NuRD complex and can oppose MBD2-MeCP1-mediated methylation silencing, [RefSeq, PubMed]; MBD3L2 is more effective than MBD3 in promoting Tet2 enzymatic activity through strengthening the binding affinity between Tet2 and the methylated DNA target., [RefSeq, PubMed]; May displace the NuRD complex from chromatin., [UniProtKB, PubMed]; These factors lead to a binding affinity hierarchy of p66alpha for the different MBD2 homologues (MBD2 approximately MBD3 > MBD3L1 approximately MBD3L2)., [RefSeq, PubMed]; This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein has been found in germ cell tumors and some somatic tissues. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008327 methyl-CpG binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006346 DNA methylation-dependent constitutive heterochromatin formation;GO:1902275 regulation of chromatin organization", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q8NHZ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TD35-1", "uniprot_id": [ { "id": "LKAM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TD35", "type": "external" } ], "mass": 21508.0, "length": 194, "protein_name": "Protein LKAAEAR1", "gene_name": "LKAAEAR1", "organism": "Human", "refseq_name": "protein LKAAEAR1 isoform 1", "refseq_ac": [ { "id": "NP_001007126", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007126", "type": "external" } ], "gene_names_uniprotkb": "LKAAEAR1; C20orf201", "gene_names_refseq": "C20orf201; LKAAEAR1", "protein_names_uniprotkb": "Protein LKAAEAR1; LKAAEAR motif-containing protein 1", "protein_names_refseq": "LKAAEAR motif-containing protein 1; protein LKAAEAR1 isoform 1; protein LKAAEAR1", "tax_id": 9606, "disease": "", "pathway": " (hsa:198437)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "26721930", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N419;Q8TD36", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8TD35-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JK9-1", "uniprot_id": [ { "id": "MAML3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JK9", "type": "external" } ], "mass": 122293.0, "length": 1138, "protein_name": "Mastermind-like protein 3", "gene_name": "MAML3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MAML3; KIAA1816", "gene_names_refseq": "", "protein_names_uniprotkb": "Mastermind-like protein 3; Mam-3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:55534); (R-HSA-1912408); (R-HSA-210744); (R-HSA-2122947); (R-HSA-2197563); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-350054); (R-HSA-8941856); (R-HSA-9013508); (R-HSA-9013695); (R-HSA-9793380); (R-HSA-9976102)", "pathway_count": 13, "publication_count": 124, "publication_id_list": "10206645;10713164;10879540;10882063;10964718;11006133;11044625;11101851;11112321;11237011;11461910;11585921;11740940;11866432;11986231;12050117;12209127;12354787;12370315;12374742;12386158;12391150;12530964;14672936;14980219;14991602;15107403;15472075;15531924;15546612;15574878;15684396;15760269;15824097;15829515;16093323;16256737;16530044;16530045;16612405;16738328;16751179;17003037;17114293;17157496;17284587;17344417;17401372;17540598;17540599;17554337;17646408;17646409;17685488;17823410;18043734;18077452;18094723;18239137;18296446;1831692;18374649;18724371;18824583;18824585;18974129;19150886;19151708;19524514;19608861;19714243;19723635;19726682;19773441;19800882;20080834;20090754;20351093;20442293;20442780;20495621;20801121;20804727;20805998;20972443;21280156;21402699;21551231;21602795;21637926;21875955;22110129;22396495;23481700;24715725;25417103;25576301;26387946;26801977;26977885;27749937;27841855;28178531;29101237;29146722;29557506;33392160;34087483;38253038;7566092;7588063;8001118;8649374;8687460;8878478;9244301;9315665;9462510;9604939;9620803;9651681;9693032;9694793;9819428", "class_list": "", "function": "Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RNU9;B3KVV7;E7EVW8", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007219 Notch signaling pathway;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007221 positive regulation of transcription of Notch receptor target", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q96JK9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQD1-1", "uniprot_id": [ { "id": "MCHL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQD1", "type": "external" } ], "mass": 9856.0, "length": 86, "protein_name": "Putative pro-MCH-like protein 2", "gene_name": "PMCHL2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PMCHL2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative pro-MCH-like protein 2; Pro-melanin-concentrating hormone-like protein 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "sleeping sickness (Disease Ontology:DOID:10112); obesity (Disease Ontology:DOID:9970)", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "11070051;11181993;8188237", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0030354 melanin-concentrating hormone activity;GO:0031777 type 1 melanin-concentrating hormone receptor binding", "go_cellular_component": "GO:0045202 synapse", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0032227 negative regulation of synaptic transmission, dopaminergic", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9BQD1-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSK0-1", "uniprot_id": [ { "id": "MALD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSK0", "type": "external" } ], "mass": 18914.0, "length": 173, "protein_name": "MARVEL domain-containing protein 1", "gene_name": "MARVELD1", "organism": "Human", "refseq_name": "MARVEL domain-containing protein 1", "refseq_ac": [ { "id": "NP_113672", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113672", "type": "external" } ], "gene_names_uniprotkb": "MARVELD1; MRVLDC1", "gene_names_refseq": "GB14; MARVD1; MARVELD1; MRVLDC1; bA548K23.8", "protein_names_uniprotkb": "MARVEL domain-containing protein 1", "protein_names_refseq": "MARVEL (membrane-associating) domain containing 1; MARVEL domain-containing protein 1; occludin; putative MARVEL domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:83742)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "19364627;22223895;22320884;23826386;25520033;26107903;26509557;29314611;31066116;33592498;34008750;34357683;36241641", "class_list": "", "function": "Importin-beta1 mediates the non-classical nucleocytoplasmic transport of MARVELD1., [RefSeq, PubMed]; MARVELD1 may regulate tumor cell proliferation and sensitivity to chemotherapeutic drugs via reducing the exorbitant reactive oxygen species. The mechanism was that MARVELD1 interacted with catalase to maintain latter stability, and then ensure continuous reactive oxygen species scavenge., [RefSeq, PubMed]; MARVELD1 protein is located in nucleus instead of cell membrane in several different tumors, in males and in females., [RefSeq, PubMed]; MARVELD1 silencing is an appealing diagnostic biomarker for lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MARVELD1 substantially inhibits nonsense-mediated RNA decay by decreasing the pioneer round of translation but not steady-state translation, and is an important component of the molecular machinery containing UPF1 and Y14. MARVELD1 promotes the dissociation of SMG1 from UPF1, resulting in the repression of serine phosphorylation of UPF1, and subsequently blocks the recruitment of SMG5. Publication Status: Online-Only, [RefSeq, PubMed]; Microtubule-associated protein that exhibits cell cycle-dependent localization and can inhibit cell proliferation and migration., [UniProtKB]; Our findings suggest that MARVELD1 is a tumor suppressor by negatively regulating proliferation, tumor growth and chemosensitivity of HCC cells via increasing p53 and p16 in vitro and in vivo., [RefSeq, PubMed]; Study demonstrates that MARVELD1-mediated balance of integrin beta1 and beta4 regulates cell surface ultrastructure and epithelial-mesenchymal transition phenotype of non-small cell lung cancer (NSCLC)., [RefSeq, PubMed]; Up-regulation of MARVEL domain-containing protein 1 (MARVELD1) accelerated the malignant phenotype of glioma cancer cells via mediating JAK/STAT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0019911 structural constituent of myelin sheath", "go_cellular_component": "GO:0005634 nucleus;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0042552 myelination", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9BSK0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0U3-1", "uniprot_id": [ { "id": "MAGT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0U3", "type": "external" } ], "mass": 38037.0, "length": 335, "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1", "gene_name": "MAGT1", "organism": "Human", "refseq_name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1 isoform 2", "refseq_ac": [ { "id": "NP_115497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115497", "type": "external" } ], "gene_names_uniprotkb": "MAGT1; IAG2; PRO1244; PSEC0084", "gene_names_refseq": "CDG1CC; IAP; MAGT1; MRX95; OST3B; PRO0756; SLC58A1; XMEN; bA217H1.1", "protein_names_uniprotkb": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1; IAP; Implantation-associated protein; MagT1; Magnesium transporter protein 1; Oligosaccharyl transferase subunit MAGT1", "protein_names_refseq": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1 isoform 2; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1; implantation-associated protein; oligosaccharyl transferase subunit MAGT1; oligosaccharyltransferase 3 homolog B", "tax_id": 9606, "disease": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (Disease Ontology:DOID:0080319); congenital disorder of glycosylation Icc (Disease Ontology:DOID:0111839); prostate cancer (Disease Ontology:DOID:10283); bacterial infectious disease (Disease Ontology:DOID:104); primary immunodeficiency disease (Disease Ontology:DOID:612)", "pathway": " (hsa:84061); (R-HSA-446203); (R-HSA-5223345); (R-HSA-6798695); (R-HSA-9694548); (R-HSA-9918432); (R-HSA-9931295)", "pathway_count": 7, "publication_count": 166, "publication_id_list": "10.1101/2023.09.13.557529;10228156;10571941;11230166;11237011;11326272;11326338;11401429;11470266;12089159;12171918;12297987;12297989;12678917;12887896;12893276;12951058;12975309;13130483;14514716;14688233;14984739;15804357;16303743;16317064;17166836;18057121;18347014;1840603;18455129;18930737;18991276;19262752;1955075;19717468;19835842;20798515;21796205;21993680;22119785;22649030;22915798;23169667;23481700;23650620;23871722;24112972;24366607;24550228;24715725;24725410;24790029;25135935;25418920;25504528;25576301;25645385;25892735;26154972;26208004;26620797;26635246;26811146;26824658;26864433;26992070;27102039;27383988;27543614;27572267;27846572;27920218;28063628;28218747;28228285;28228593;2834401;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29508533;29557506;29632711;29765039;30118680;30315122;30410026;30779550;30833945;31036665;31154438;31217245;31305264;31831667;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32363391;32366695;32387766;32488085;32502341;32518941;32676595;32938616;32983136;33043033;33123756;33298915;33310888;33537174;33592498;33717175;33968037;33981976;34087483;34117209;34171305;34185709;34357683;34428449;34499581;34509645;34528721;34561969;34599882;34725712;34932366;34961524;35051231;35154160;35215835;35251023;35264785;35430713;35561310;35580925;35796007;36010968;36241641;36284347;36581221;36719382;37074911;37938771;38665916;38793607;38896122;4018271;6156677;7072193;7615546;7619062;7749638;7986008;8692836;9114041;9537412", "class_list": "", "function": "Accessory component of the STT3B-containing form of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains (PubMed:31831667). Involved in N-glycosylation of STT3B-dependent substrates (PubMed:31831667). Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with TUSC3. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Also has oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition. Could indirectly play a role in Mg(2+) transport in epithelial cells (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum. Publication Status: Online-Only, [RefSeq, PubMed]; Identifed a novel gene that encodes a protein involved with Mg2+-evoked transport, MagT1; results suggest that MagT1 may provide a selective and regulated pathway for Mg2+ transport in epithelial cells[MagT1] Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease., [RefSeq, PubMed]; Long non-coding RNA FLVCR1-AS1 functions as a ceRNA to aggravate cervical cancer cell growth by the miR-381-3p/MAGT1 axis., [RefSeq, PubMed]; MAGT1 is required for HeLa cell proliferation through regulating p21 expression, S-phase progress, and ERK/p38 MAPK MYC axis., [RefSeq, PubMed]; Study shows that mutations in two OTase-subunit genes, N33/TUSC3 and IAP result in autosomal-recessive nonsyndromic mental retardation, [RefSeq, PubMed]; This gene encodes a ubiquitously expressed magnesium cation transporter protein that localizes to the cell membrane. This protein also associates with N-oligosaccharyl transferase and therefore may have a role in N-glycosylation. Mutations in this gene cause a form of X-linked intellectual disability (XLID). This gene may have multiple in-frame translation initiation sites, one of which would encode a shorter protein with an N-terminus containing a signal peptide at amino acids 1-29. [provided by RefSeq, Jul 2017]., [RefSeq]; Transcription factor KLF16 activates MAGT1 to regulate the tumorigenesis and progression of breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RAR4;D3DTE3;Q53G00;Q6P577;Q8NBN6", "ec_number_list": [], "go_molecular_function": "GO:0015095 magnesium ion transmembrane transporter activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0035577 azurophil granule membrane", "go_biological_process": "GO:0015693 magnesium ion transport;GO:1903830 magnesium ion transmembrane transport;GO:0050890 cognition;GO:0055085 transmembrane transport;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "Q9H0U3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2C1-1", "uniprot_id": [ { "id": "LHX5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2C1", "type": "external" } ], "mass": 44406.0, "length": 402, "protein_name": "LIM/homeobox protein Lhx5", "gene_name": "LHX5", "organism": "Human", "refseq_name": "LIM/homeobox protein Lhx5", "refseq_ac": [ { "id": "NP_071758", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071758", "type": "external" } ], "gene_names_uniprotkb": "LHX5", "gene_names_refseq": "LHX5", "protein_names_uniprotkb": "LIM/homeobox protein Lhx5; LIM homeobox protein 5", "protein_names_refseq": "LIM homeobox protein 5; LIM/homeobox protein Lhx5", "tax_id": 9606, "disease": "", "pathway": " (hsa:64211)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10.1101/2023.09.13.557529;10325223;11137295;11566211;12782966;33981976;35051231", "class_list": "", "function": "In mice, this protein is essential for the regulation of precursor cell proliferation and the control of neuronal differentiation and migration during hippocampal development., [RefSeq, PubMed]; In mice, this protein is involved in learning and motor functions., [RefSeq, PubMed]; Plays an essential role in the regulation of neuronal differentiation and migration during development of the central nervous system., [UniProtKB]; This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in the control of differentiation and development of the forebrain. In mice, this protein is essential for the regulation of precursor cell proliferation and the control of neuronal differentiation and migration during hippocampal development. This protein is involved in learning and motor functions in adult mice. [provided by RefSeq, Jul 2008]., [RefSeq]; Variation is not a highly penetrant autosomal dominant susceptibility locus for mood disorder in families., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q32MA4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0030182 neuron differentiation;GO:0021527 spinal cord association neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9H2C1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBF1-1", "uniprot_id": [ { "id": "MAGC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBF1", "type": "external" } ], "mass": 41163.0, "length": 373, "protein_name": "Melanoma-associated antigen C2", "gene_name": "MAGEC2", "organism": "Human", "refseq_name": "melanoma-associated antigen C2", "refseq_ac": [ { "id": "NP_057333", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057333", "type": "external" } ], "gene_names_uniprotkb": "MAGEC2; HCA587; MAGEE1", "gene_names_refseq": "CT10; HCA587; MAGEC2; MAGEE1", "protein_names_uniprotkb": "Melanoma-associated antigen C2; CT10; Cancer/testis antigen 10; Hepatocellular carcinoma-associated antigen 587; MAGE-C2 antigen; MAGE-E1 antigen", "protein_names_refseq": "MAGE-C2 antigen; MAGE-E1 antigen; cancer/testis antigen 10; hepatocellular cancer antigen 587; hepatocellular carcinoma-associated antigen 587; melanoma antigen family C, 2; melanoma antigen family C2; melanoma antigen, family E, 1, cancer/testis specific; melanoma-associated antigen C2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51438)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10699956;10861452;12097419;12920247;16959974;17942928;20864041;21216894;24715725;25311806;25645385;25892735;26992070;27198675;27600516;27869121;27893789;29331515;30418433;31485721;31727154;31844290;31887370;32488085;32582212;32938616;33279609;33968037;34290406;34405274;35051231;35318648;35355564;35874702;35970555;36010968;36211805;36589698;39394480", "class_list": "", "function": "CT10 and PRAME are expressed in a subset of HGUC and CTA and MHC I expression correlate with a number of important immune parameters, [RefSeq, PubMed]; Identification of MAGEC2/CT10 as a High Calcium-Inducible Gene in Triple-Negative Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MageC2 protein is upregulated by oncogenic activation of MAPK pathway and causes impairment of the p53 transactivation function. Erratum:[Biochim Biophys Acta Mol Cell Res. 2024 Aug;1871(6):119767. doi: 10.1016/j.bbamcr.2024.119767. PMID: 38833988], [RefSeq, PubMed]; Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination in presence of Ubl-conjugating enzyme UBE2H leading to p53/TP53 degradation. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzymes (E2) at the E3:substrate complex., [UniProtKB, PubMed]; This gene is a member of the MAGEC gene family. It is not expressed in normal tissues, except for testis, and is expressed in tumors of various histological types. This gene and the other MAGEC genes are clustered on chromosome Xq26-q27. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JZ00;Q96D45;Q9P1M6;Q9P1M7", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0030163 protein catabolic process;GO:0051443 positive regulation of ubiquitin-protein transferase activity", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9UBF1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6I1-1", "uniprot_id": [ { "id": "LV460_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6I1", "type": "external" } ], "mass": 12987.0, "length": 120, "protein_name": "Immunoglobulin lambda variable 4-60", "gene_name": "IGLV4-60", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLV4-60", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 4-60", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11872955;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 467, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A075B6I1-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6I9-1", "uniprot_id": [ { "id": "LV746_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6I9", "type": "external" } ], "mass": 12468.0, "length": 117, "protein_name": "Immunoglobulin lambda variable 7-46", "gene_name": "IGLV7-46", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLV7-46", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 7-46", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11872955;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 385, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A075B6I9-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6J1-1", "uniprot_id": [ { "id": "LV537_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6J1", "type": "external" } ], "mass": 13277.0, "length": 123, "protein_name": "Immunoglobulin lambda variable 5-37", "gene_name": "IGLV5-37", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLV5-37", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 5-37", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11872955;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 299, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A075B6J1-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75951-1", "uniprot_id": [ { "id": "LYZL6_HUMAN", "url": "https://www.uniprot.org/uniprot/O75951", "type": "external" } ], "mass": 16956.0, "length": 148, "protein_name": "Lysozyme-like protein 6", "gene_name": "LYZL6", "organism": "Human", "refseq_name": "lysozyme-like protein 6 precursor", "refseq_ac": [ { "id": "NP_001186880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186880", "type": "external" } ], "gene_names_uniprotkb": "LYZL6; LYC1; PRO1485", "gene_names_refseq": "HEL-S-6a; LYC1; LYZB; LYZL6; PRO1485; TKAL754; UNQ754", "protein_names_uniprotkb": "Lysozyme-like protein 6; 3.2.1.17", "protein_names_refseq": "epididymis secretory sperm binding protein Li 6a; lysozyme B; lysozyme homolog; lysozyme-like protein 6 precursor; lysozyme-like protein 6", "tax_id": 9606, "disease": "viral infectious disease (Disease Ontology:DOID:934)", "pathway": " (hsa:57151)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10213461;11237011;12975309;16014814;24013621;28182716", "class_list": "glycogene;glycosylhydrolase", "function": "LYZL6, an acidic, bacteriolytic and human sperm-related protein, is likely important for fertilization but not for the innate immunity of the male reproductive tract. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved sperm-egg plasma membrane adhesion and fusion during fertilization (PubMed:28182716). Exhibits bacteriolytic activity in vitro against Micrococcus luteus and Staphylococcus aureus (PubMed:24013621, PubMed:28182716). Shows weak bacteriolytic activity against Gram-positive bacteria at physiological pH (PubMed:28182716). Bacteriolytic activity is pH-dependent, with a maximum at around pH 5.6 (PubMed:28182716)., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the C-type lysozyme/alpha-lactalbumin family. C-type lysozymes are bacteriolytic factors that play a role in host defense, whereas alpha-lactalbumins mediate lactose biosynthesis. The encoded protein contains catalytic residues characteristic of C-type lysozymes and may play a role in male reproduction. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 187, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6UW30", "ec_number_list": [], "go_molecular_function": "GO:0003796 lysozyme activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0009986 cell surface;GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum;GO:0097524 sperm plasma membrane", "go_biological_process": "GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0009566 fertilization;GO:0042742 defense response to bacterium;GO:0031640 killing of cells of another organism", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "O75951-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NCF6-1", "uniprot_id": [ { "id": "MA13P_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NCF6", "type": "external" } ], "mass": 37899.0, "length": 341, "protein_name": "Putative MAGE domain-containing protein MAGEA13P", "gene_name": "MAGEA13P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MAGEA13P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative MAGE domain-containing protein MAGEA13P", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "32488085;35051231;35580925", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NCF6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NDA9-1", "uniprot_id": [ { "id": "LRIT2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NDA9", "type": "external" } ], "mass": 60168.0, "length": 550, "protein_name": "Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2", "gene_name": "LRIT2", "organism": "Human", "refseq_name": "leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001017924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017924", "type": "external" } ], "gene_names_uniprotkb": "LRIT2; LRRC22", "gene_names_refseq": "LRIT2; LRRC22", "protein_names_uniprotkb": "Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2; Leucine-rich repeat-containing protein 22", "protein_names_refseq": "leucine rich repeat containing 22; leucine-rich repeat, immunoglobulin-like and transmembrane domains 2; leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 isoform 2 precursor; leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2; leucine-rich repeat-containing protein 22", "tax_id": 9606, "disease": "", "pathway": " (hsa:340745)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "20237496;29242379;29557506;32938616;35051231", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7ZME6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NDA9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NHS7-1", "uniprot_id": [ { "id": "MANS4_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NHS7", "type": "external" } ], "mass": 37879.0, "length": 340, "protein_name": "MANSC domain-containing protein 4", "gene_name": "MANSC4", "organism": "Human", "refseq_name": "MANSC domain-containing protein 4 precursor", "refseq_ac": [ { "id": "NP_001139693", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139693", "type": "external" } ], "gene_names_uniprotkb": "MANSC4", "gene_names_refseq": "MANSC4", "protein_names_uniprotkb": "MANSC domain-containing protein 4", "protein_names_refseq": "MANSC domain-containing protein 4 precursor; MANSC domain-containing protein 4; MANSC domain-containing protein ENSP00000370673", "tax_id": 9606, "disease": "", "pathway": " (hsa:100287284)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "23481700;29242379;35051231", "class_list": "", "function": "", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0060429 epithelium development;GO:0030198 extracellular matrix organization;GO:0008544 epidermis development", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NHS7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MUP2-1", "uniprot_id": [ { "id": "CSKMT_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MUP2", "type": "external" } ], "mass": 25910.0, "length": 240, "protein_name": "Citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial", "gene_name": "CSKMT", "organism": "Human", "refseq_name": "citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001036694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036694", "type": "external" } ], "gene_names_uniprotkb": "CSKMT; METTL12", "gene_names_refseq": "CS-KMT; CSKMT; METTL12; U99HG", "protein_names_uniprotkb": "Citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial; 2.1.1.-; CS-KMT; Methyltransferase-like protein 12, mitochondrial", "protein_names_refseq": "citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial precursor; citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial; methyltransferase like 12; methyltransferase-like protein 12, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:751071); (R-HSA-9854311)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "15247478;17923681;19628817;20167786;22416140;24954416;24954417;25023281;26749241;28380382;28391595;28887308;34289383;35051231;9989622", "class_list": "", "function": "Data suggest that METTL12, localized in mitochondrial matrix, modifies/methylates Lys368 of citrate synthase in external surface region close to its catalytic site; addition/removal of methylation has no effect on citrate synthase activity; Lys368 occurs in highly conserved sequence of amino acid residues of citrate synthase., [RefSeq, PubMed]; Protein-lysine methyltransferase that selectively trimethylates citrate synthase (CS) in mitochondria (PubMed:28391595, PubMed:28887308). Seems to conduct trimethylation in a highly distributive manner rather than in a processive manner, and thus introduces a single methyl group per binding event (PubMed:28887308)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z4C1", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" } ], "go_molecular_function": "GO:0016278 lysine N-methyltransferase activity;GO:0016279 protein-lysine N-methyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006479 protein methylation;GO:0018026 peptidyl-lysine monomethylation;GO:0018023 peptidyl-lysine trimethylation;GO:0018027 peptidyl-lysine dimethylation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "A8MUP2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PJG9-1", "uniprot_id": [ { "id": "LRFN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PJG9", "type": "external" } ], "mass": 66860.0, "length": 635, "protein_name": "Leucine-rich repeat and fibronectin type-III domain-containing protein 4", "gene_name": "LRFN4", "organism": "Human", "refseq_name": "leucine-rich repeat and fibronectin type-III domain-containing protein 4 precursor", "refseq_ac": [ { "id": "NP_076941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076941", "type": "external" } ], "gene_names_uniprotkb": "LRFN4; SALM3", "gene_names_refseq": "FIGLER6; LRFN4; SALM3.; SALM3", "protein_names_uniprotkb": "Leucine-rich repeat and fibronectin type-III domain-containing protein 4", "protein_names_refseq": "fibronectin type III, immunoglobulin and leucine rich repeat domains 6; leucine-rich repeat and fibronectin type-III domain-containing protein 4 precursor; leucine-rich repeat and fibronectin type-III domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:78999); (R-HSA-8849932)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16495444;16630835;18227064;18669648;19681166;20068231;20600927;21704618;23186163;24715725;26321637;28832583;29242379;29314611;29393594;29557506;29789417;30315122;30573663;31089399;31154438;31844290;32387766;32488085;32536098;32938616;33968037;34171305;34357683;35051231;35251023;35580925;36241641;7569905;8601796", "class_list": "", "function": "Data indicate that LRFN4 signaling plays an important role in the migration of monocytes/macrophages., [RefSeq, PubMed]; Promotes neurite outgrowth in hippocampal neurons. May play a role in redistributing DLG4 to the cell periphery (By similarity)., [UniProtKB]; SALM3 is overexpressed in the tumor cells and fibroblasts of gastric cancer patients. High SALM3 expression is associated with poor prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; SALM3 regulates excitatory synapse development and locomotion behavior., [RefSeq, PubMed]; [Expression and clinical significance of LRFN4 in colorectal cancer tissue]., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q4VBZ3;Q59GV4;Q8N644;Q9BWJ0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0099560 synaptic membrane adhesion;GO:1905606 regulation of presynapse assembly;GO:0099151 regulation of postsynaptic density assembly", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q6PJG9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05C16-1", "uniprot_id": [ { "id": "LRC63_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05C16", "type": "external" } ], "mass": 67163.0, "length": 587, "protein_name": "Leucine-rich repeat-containing protein 63", "gene_name": "LRRC63", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 63", "refseq_ac": [ { "id": "NP_001269389", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269389", "type": "external" } ], "gene_names_uniprotkb": "LRRC63", "gene_names_refseq": "LRRC63", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 63", "protein_names_refseq": "leucine-rich repeat-containing protein 63", "tax_id": 9606, "disease": "", "pathway": " (hsa:220416)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;24190977", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0A7D9NKF2;Q5TBN0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q05C16-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12980-1", "uniprot_id": [ { "id": "LYL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P12980", "type": "external" } ], "mass": 29938.0, "length": 280, "protein_name": "Protein lyl-1", "gene_name": "LYL1", "organism": "Human", "refseq_name": "protein lyl-1", "refseq_ac": [ { "id": "NP_005574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005574", "type": "external" } ], "gene_names_uniprotkb": "LYL1; BHLHA18", "gene_names_refseq": "LYL1; bHLHa18", "protein_names_uniprotkb": "Protein lyl-1; Class A basic helix-loop-helix protein 18; Lymphoblastic leukemia-derived sequence 1; bHLHa18", "protein_names_refseq": "class A basic helix-loop-helix protein 18; lymphoblastic leukemia associated hematopoiesis regulator 1; lymphoblastic leukemia derived sequence 1; protein lyl-1", "tax_id": 9606, "disease": "T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603)", "pathway": " (hsa:4066); (R-HSA-9031628)", "pathway_count": 2, "publication_count": 174, "publication_id_list": "10203854;10381005;10611221;10611312;10656257;10734128;10826704;10872467;10882540;10984481;11018254;11027551;11237011;11280768;11331872;11343657;11567222;11755530;11840323;11956230;12399542;12511643;1377233;14522948;14597720;14969744;15102911;15161978;15449318;15542842;15620361;1570299;15733869;15836632;15880109;16034366;16136673;16187211;16221685;16260776;16287845;16339507;16407550;16484497;16574654;16732277;17088210;17088211;17088212;17632064;17898216;18056528;18088355;18160048;1833716;18456662;18524893;1861162;19061646;19116276;19193899;19194657;19926875;2017159;2040600;20506119;2052361;2072895;20844761;21057636;2109185;21326363;21486943;21621608;22053691;22065583;22302795;2237820;23186163;23481700;24060757;24714562;24715725;25248477;25569790;25576301;25748042;25892735;26018600;26154972;26728094;2676516;26992070;27041596;27128622;27220739;27397612;2752424;27862975;28076410;28228285;28275114;28286024;28832583;28834231;28904123;29242379;29493099;29557506;29559111;29632711;29716549;29769354;29786170;30315122;30524438;30755707;31154438;31217245;3127059;31844290;31848261;32387766;32502341;32897882;32983136;33141586;33298915;33392160;33691108;33717175;33912179;33936100;34509645;35051231;35580925;35842703;36215477;3672127;37938771;7551568;7592934;7595538;7608156;7624335;7777577;7823924;7857651;7871435;7876254;7923378;8090221;8090222;8248782;8413279;8483478;8576248;8583621;8668170;8756618;8846918;8918830;9032251;9084409;9343422;9390517;9418898;9622090;9722618;9770464;9774344;9808461;9822744;9858769", "class_list": "", "function": "Despite not being identified as an independent prognostic factor in UCEC, LYL1 gene amplification is associated with other poor prognostic factors and correlated with upregulation of cancer-related pathways. Publication Status: Online-Only, [RefSeq, PubMed]; LYL1 facilitates AETFC assembly and gene activation by recruiting CARM1 in t(8;21) AML., [RefSeq, PubMed]; Repression of LYL1 contributes to t(8;21) leukemic cell differentiation., [RefSeq, PubMed]; Super-enhancer profiling identifies novel critical and targetable cancer survival gene LYL1 in pediatric acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; This gene represents a basic helix-loop-helix transcription factor. The encoded protein may play roles in blood vessel maturation and hematopoeisis. A translocation between this locus and the T cell receptor beta locus (GeneID 6957) on chromosome 7 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Sep 2010]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O76102", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046983 protein dimerization activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0030183 B cell differentiation", "synthesized_glycan_count": 0, "hit_score": 17.5, "record_id": "P12980-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00187-1", "uniprot_id": [ { "id": "MASP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O00187", "type": "external" } ], "mass": 75702.0, "length": 686, "protein_name": "Mannan-binding lectin serine protease 2", "gene_name": "MASP2", "organism": "Human", "refseq_name": "mannan-binding lectin serine protease 2 isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_006601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006601", "type": "external" } ], "gene_names_uniprotkb": "MASP2", "gene_names_refseq": "MAP-2; MAP19; MASP-2; MASP1P1; MASP2; sMAP", "protein_names_uniprotkb": "Mannan-binding lectin serine protease 2; 3.4.21.104; MASP-2; MBL-associated serine protease 2; Mannose-binding protein-associated serine protease 2", "protein_names_refseq": "MBL-associated plasma protein of 19 kD; mannan binding lectin serine peptidase 2; mannan-binding lectin serine peptidase 1 pseudogene 1; mannan-binding lectin serine protease 1 pseudogene 1; mannan-binding lectin serine protease 2 isoform 1 preproprotein; mannan-binding lectin serine protease 2; mannose-binding lectin associated protein 19; mannose-binding lectin-associated serine protease 2; mannose-binding protein-associated serine protease 2; small MBL-associated protein", "tax_id": 9606, "disease": "immunodeficiency due to MASP-2 deficiency (MONDO:MONDO:0013423)", "pathway": " (hsa:10747)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "10092804;10330290;10946292;11237011;11426320;11527969;12904520;15117939;15364579;16029433;16040602;17252003;19307021;22511776;22691502;22949645;22966085;23090970;23386610;24658431;25862418;25911760;25930971;27599733;29557506;31154438;35051231;35483450;36574978;36805857;37074911;37191586;37204457;39924859;8618346;9087411", "class_list": "glycogene", "function": "Ficolin-3 and MASP-2 gene variants in Siberian arctic populations: Summarized evidence of selective pressure for the high frequency of lectin complement pathway deficiency., [RefSeq, PubMed]; L-ficolin-MASP arm of the complement system in schizophrenia., [RefSeq, PubMed]; MASP2 inhibition by narsoplimab suppresses endotheliopathies characteristic of transplant-associated thrombotic microangiopathy: in vitro and ex vivo evidence., [RefSeq, PubMed]; Mannose-binding lectin gene 2 variant DD (rs 5030737) is associated with susceptibility to COVID-19 infection in the urban population of Patna City (India)., [RefSeq, PubMed]; Polymorphisms in MASP1 and MASP2 genes are associated with the susceptibility or protection to infectious diseases. (Review) Review article, [RefSeq, PubMed]; Precursor of a serum protease that activates the lectin pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. The lectin complement system is activated following association of lectins, such as MBL2, FCN1, FCN2 or FCN3, to carbohydrates on the pathogen surface. MASP2 is cleaved and activated by MASP1 in response to lectin-binding to pathogen carbohydrates. Can activate prothrombin to thrombin., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Serine protease component of the lectin complement pathway, which catalyzes cleavage and activation of C2 and C4, the next components of the complement pathway., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 1032, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K458;A8MWJ2;O75754;Q5TEQ5;Q5TER0;Q96QG4;Q9BZH0;Q9H498;Q9H499;Q9UBP3;Q9UC48;Q9ULC7;Q9UMV3;Q9Y270", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0042802 identical protein binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding;GO:0008233 peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0009986 cell surface;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0001867 complement activation, lectin pathway;GO:0006958 complement activation, classical pathway;GO:0045087 innate immune response;GO:0006956 complement activation", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "O00187-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DP75-1", "uniprot_id": [ { "id": "M14OS_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DP75", "type": "external" } ], "mass": 14289.0, "length": 135, "protein_name": "Putative uncharacterized protein MED14OS", "gene_name": "MED14OS", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MED14OS; MED14-AS1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein MED14OS; MED14 antisense gene protein 1; MED14 opposite strand protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "37217939", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P0DP75-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P33908-1", "uniprot_id": [ { "id": "MA1A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P33908", "type": "external" } ], "mass": 72969.0, "length": 653, "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA", "gene_name": "MAN1A1", "organism": "Human", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IA", "refseq_ac": [ { "id": "NP_005898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005898", "type": "external" } ], "gene_names_uniprotkb": "MAN1A1", "gene_names_refseq": "HUMM3; HUMM9; MAN1A1; MAN9", "protein_names_uniprotkb": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA; 3.2.1.113; Alpha-1,2-mannosidase IA; Man(9)-alpha-mannosidase; Man9-mannosidase; Mannosidase alpha class 1A member 1; Processing alpha-1,2-mannosidase IA", "protein_names_refseq": "Man9-mannosidase; alpha-1,2-mannosidase IA; man(9)-alpha-mannosidase; mannosyl-oligosaccharide 1,2-alpha-mannosidase IA; processing alpha-1,2-mannosidase IA", "tax_id": 9606, "disease": "", "pathway": " (hsa:4121); (R-HSA-6811438); (R-HSA-964827)", "pathway_count": 3, "publication_count": 114, "publication_id_list": "10.1101/2023.09.13.557529;10189370;10652308;10652516;10915796;11718716;11748249;12011112;12383348;12429822;15504911;15718469;15728195;15758030;17274799;18086915;18256213;18451304;18512783;19164740;19413330;19536132;19715559;20163571;20874812;21081667;21807881;22013193;22188167;23090970;23091056;23239882;23378023;23462996;23481700;23719902;23839779;23936529;23940353;24119662;24190977;24714562;25502872;25505266;25645385;25708460;26728094;26992070;27452731;27726376;27862975;28467828;28832583;28834231;28871256;28904123;29242379;29314611;29393594;29493099;29557506;29632046;29632711;29774024;30315122;30524438;30573663;30626607;30779550;31611695;31659304;31844290;31848261;32157095;32162841;32265295;32331836;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33196586;33298915;33537174;33592498;33717175;33912179;33968037;33981976;34171305;34185709;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35580925;36010968;36241641;37074911;8223597;8636227;8945478;9244307;9476900;9510256;9653114;9707577;9915833", "class_list": "glycogene;glycosylhydrolase", "function": "Identification of a Novel MAN1A1-ROS1 Fusion Gene Through mRNA-based Screening for Tyrosine Kinase Gene Aberrations in a Patient with Leiomyosarcoma., [RefSeq, PubMed]; Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2)., [UniProtKB]; Markers of malignant prostate cancer cells: Golgi localization of alpha-mannosidase 1A at GM130-GRASP65 site and appearance of high mannose N-glycans on cell surface., [RefSeq, PubMed]; These results show an oncogenic role of the Golgi mannosidase MAN1A1 in ovarian cancer, where MAN1A1 expression levels significantly affects recurrence-free and overall survival . Mannosidase-mediated N-glycosylation has a strong impact on tumour cell aggregation and affects the prognostic impact of the adhesion molecule ALCAM., [RefSeq, PubMed]; This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 740, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E7EU32;Q6P052;Q9NU44;Q9UJI3", "ec_number_list": [ { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.113", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.113", "type": "external" }, { "id": "3.2.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.114", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" } ], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity;GO:0015923 mannosidase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0036503 ERAD pathway;GO:0045047 protein targeting to ER;GO:1904382 mannose trimming involved in glycoprotein ERAD pathway;GO:1904381 Golgi apparatus N-glycan mannose trimming", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "P33908-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35410-1", "uniprot_id": [ { "id": "MAS1L_HUMAN", "url": "https://www.uniprot.org/uniprot/P35410", "type": "external" } ], "mass": 42411.0, "length": 378, "protein_name": "Mas-related G protein-coupled receptor MRG", "gene_name": "MAS1L", "organism": "Human", "refseq_name": "mas-related G-protein coupled receptor MRG", "refseq_ac": [ { "id": "NP_443199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443199", "type": "external" } ], "gene_names_uniprotkb": "MAS1L; MRG", "gene_names_refseq": "MAS-L; MAS1L; MRG; dJ994E9.2", "protein_names_uniprotkb": "Mas-related G protein-coupled receptor MRG; MAS-R; MAS1-like", "protein_names_refseq": "MAS-R; MAS1 oncogene-like; MAS1-like; mas-related G protein-coupled MRG; mas-related G-protein coupled receptor MRG", "tax_id": 9606, "disease": "", "pathway": " (hsa:116511)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "1723144;18636314;29557506;31154438;35051231", "class_list": "", "function": "Mas, MrgD, and MRG mediated Ang IV-stimulated AA release that was highest for Mas. While Ang III activated Mas and MrgX2, Ang II stimulated AA release via Mas and MRG., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5SUN5", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P35410-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43366-1", "uniprot_id": [ { "id": "MAGB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P43366", "type": "external" } ], "mass": 39037.0, "length": 347, "protein_name": "Melanoma-associated antigen B1", "gene_name": "MAGEB1", "organism": "Human", "refseq_name": "melanoma-associated antigen B1", "refseq_ac": [ { "id": "NP_002354", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002354", "type": "external" } ], "gene_names_uniprotkb": "MAGEB1; MAGEL1; MAGEXP", "gene_names_refseq": "CT3.1; DAM10; MAGE-Xp; MAGEB1; MAGEL1", "protein_names_uniprotkb": "Melanoma-associated antigen B1; CT3.1; Cancer/testis antigen 3.1; DAM10; DSS-AHC critical interval MAGE superfamily 10; MAGE-B1 antigen; MAGE-XP antigen", "protein_names_refseq": "DSS/AHC critical interval MAGE superfamily 10; MAGE-B1 antigen; MAGE-XP antigen; cancer/testis antigen 3.1; cancer/testis antigen family 3, member 1; melanoma antigen family B, 1; melanoma antigen family B1; melanoma-associated antigen B1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4112)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10958352;12018852;25645385;30379171;33691108;35051231;7761436;8535061", "class_list": "", "function": "Results show that hypertonic culture medium differentially induces the expression of melanoma antigens B1 and B2 (MAGE-B1, -B2) in different human tumor cell lines., [RefSeq, PubMed]; This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region, and expressed in testis and in a significant fraction of tumors of various histological types. This gene and other MAGEB members are clustered on chromosome Xp22-p21. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene, however, the full length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RC79;O00601;O75862;Q6FHJ0;Q96CW8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P43366-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q567V2-1", "uniprot_id": [ { "id": "M17L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q567V2", "type": "external" } ], "mass": 23180.0, "length": 206, "protein_name": "Mpv17-like protein 2", "gene_name": "MPV17L2", "organism": "Human", "refseq_name": "mpv17-like protein 2 precursor", "refseq_ac": [ { "id": "NP_116072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116072", "type": "external" } ], "gene_names_uniprotkb": "MPV17L2; FKSG24", "gene_names_refseq": "FKSG24; MPV17L2", "protein_names_uniprotkb": "Mpv17-like protein 2", "protein_names_refseq": "MPV17 mitochondrial membrane protein-like 2; mpv17-like protein 2 precursor; mpv17-like protein 2", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 3 (Disease Ontology:DOID:0080121); mitochondrial DNA depletion syndrome 6 (Disease Ontology:DOID:0080125); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:84769)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "17924679;20877624;24715725;24948607;25418920;25576301;25892735;26154972;26992070;28218747;28228285;28834231;29242379;29437277;29557506;29769354;30315122;30429286;30779550;31154438;31844290;31848261;32157095;32265295;32357974;32983136;33912179;34561969;35051231;35579419;35580925;37938771", "class_list": "", "function": "Bioengineered miR-34a modulates mitochondrial inner membrane protein 17 like 2 (MPV17L2) expression toward the control of cancer cell mitochondrial functions., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Required for the assembly and stability of the mitochondrial ribosome (PubMed:24948607). Is a positive regulator of mitochondrial protein synthesis (PubMed:24948607)., [UniProtKB, PubMed]; The findings suggest MPV17L2 contributes to the biogenesis of the mitochondrial ribosome, uniting the two subunits to create the translationally competent monosome., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96P34;Q96QA0;Q9BSG4", "ec_number_list": [], "go_molecular_function": "GO:0140978 mitochondrial large ribosomal subunit binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0070131 positive regulation of mitochondrial translation;GO:0061668 mitochondrial ribosome assembly", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q567V2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZNQ3-1", "uniprot_id": [ { "id": "LRC69_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZNQ3", "type": "external" } ], "mass": 39592.0, "length": 347, "protein_name": "Leucine-rich repeat-containing protein 69", "gene_name": "LRRC69", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 69 isoform 1", "refseq_ac": [ { "id": "NP_001123362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123362", "type": "external" } ], "gene_names_uniprotkb": "LRRC69", "gene_names_refseq": "LRRC69", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 69", "protein_names_refseq": "leucine-rich repeat-containing protein 69 isoform 1; leucine-rich repeat-containing protein 69", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130742)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;27846572;33633747;35051231;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q6ZNQ3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZSA7-1", "uniprot_id": [ { "id": "LRC55_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZSA7", "type": "external" } ], "mass": 33009.0, "length": 298, "protein_name": "Leucine-rich repeat-containing protein 55", "gene_name": "LRRC55", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 55 precursor", "refseq_ac": [ { "id": "NP_001005210", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005210", "type": "external" } ], "gene_names_uniprotkb": "LRRC55", "gene_names_refseq": "LRRC55", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 55; BK channel auxiliary gamma subunit LRRC55", "protein_names_refseq": "BK channel auxiliary gamma subunit LRRC55; BK channel auxilliary gamma snit LRRC55; leucine-rich repeat-containing protein 55 precursor; leucine-rich repeat-containing protein 55", "tax_id": 9606, "disease": "", "pathway": " (hsa:219527)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;15340161;22547800;26009545;29557506;31213650;33346797", "class_list": "", "function": "Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Interferon-inducible cytoplasmic lncLrrc55-AS promotes antiviral innate responses by strengthening IRF3 phosphorylation., [RefSeq, PubMed]; Suggest that BK channel modulation by auxiliary gamma subunits depends on intra- and/or juxta-membrane mechanisms., [RefSeq, PubMed]; Upregulated LRRC55 promotes BK channel activation and aggravates cell injury in podocytes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7E2U7;B2RN81", "ec_number_list": [], "go_molecular_function": "GO:0044325 transmembrane transporter binding;GO:0005249 voltage-gated potassium channel activity;GO:0099104 potassium channel activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:1903818 positive regulation of voltage-gated potassium channel activity;GO:0071805 potassium ion transmembrane transport;GO:0034220 monoatomic ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q6ZSA7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L2J0-1", "uniprot_id": [ { "id": "MEPCE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L2J0", "type": "external" } ], "mass": 74355.0, "length": 689, "protein_name": "7SK snRNA methylphosphate capping enzyme", "gene_name": "MEPCE", "organism": "Human", "refseq_name": "7SK snRNA methylphosphate capping enzyme isoform B", "refseq_ac": [ { "id": "NP_001181921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181921", "type": "external" } ], "gene_names_uniprotkb": "MEPCE; BCDIN3", "gene_names_refseq": "BCDIN3; MEPCE", "protein_names_uniprotkb": "7SK snRNA methylphosphate capping enzyme; 2.1.1.-; Bicoid-interacting protein 3 homolog; Bin3 homolog; MePCE", "protein_names_refseq": "7SK snRNA methylphosphate capping enzyme isoform B; 7SK snRNA methylphosphate capping enzyme; bicoid-interacting protein 3 homolog; bin3 homolog; bin3, bicoid-interacting 3, homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:56257)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "11237011;12358911;15592455;16964243;17081983;17643375;17978174;18212344;18220336;18669648;18691976;18707149;18767875;19369195;19413330;19415658;19651622;19664994;19664995;19690332;19906723;20058876;20068231;20166139;21406692;23186163;24275569;25418920;25505266;25576301;25880248;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28254838;28510447;28832583;28834231;29051200;29242379;29393594;29437277;29493099;29557506;29632046;30192525;30315122;30429286;30559425;30779550;30824372;31092671;31154438;31222486;31373491;31590891;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32938616;32983136;33298915;33416148;33592498;33912179;33936100;33968037;33981976;34932366;35051231;35132862;35580925;36010968;36241641;36284347;36928661;38100593;39009594;39603240;40307207", "class_list": "", "function": "Capping enzyme can play a direct role in transcription by modulating displacement of nascent RNA during transcription., [RefSeq, PubMed]; Excessive transcription-replication conflicts are a vulnerability of BRCA1-mutant cancers., [RefSeq, PubMed]; HEXIM1 Diffusion in the Nucleus Is Regulated by Its Interactions with Both 7SK and P-TEFb., [RefSeq, PubMed]; LARP3, LARP7, and MePCE are involved in the early stage of human telomerase RNA biogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Long noncoding RNA ST8SIA6AS1 promotes the migration and invasion of hypoxiatreated hepatocellular carcinoma cells through the miR338/MEPCE axis., [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent methyltransferase that adds a methylphosphate cap at the 5'-end of 7SK snRNA (7SK RNA), leading to stabilize it (PubMed:17643375, PubMed:19906723, PubMed:30559425). Also has a non-enzymatic function as part of the 7SK RNP complex: the 7SK RNP complex sequesters the positive transcription elongation factor b (P-TEFb) in a large inactive 7SK RNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation (PubMed:17643375). The 7SK RNP complex also promotes snRNA gene transcription by RNA polymerase II via interaction with the little elongation complex (LEC) (PubMed:28254838). In the 7SK RNP complex, MEPCE is required to stabilize 7SK RNA and facilitate the assembly of 7SK RNP complex (PubMed:19906723, PubMed:38100593). MEPCE has a non-enzymatic function in the 7SK RNP complex; interaction with LARP7 within the 7SK RNP complex occluding its catalytic center (PubMed:19906723). Also required for stability of U6 snRNAs (PubMed:38100593)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B3KP86;D6W5V7;Q9NPD4", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0008757 S-adenosylmethionine-dependent methyltransferase activity;GO:0008171 O-methyltransferase activity;GO:0017069 snRNA binding;GO:0097322 7SK snRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:1990904 ribonucleoprotein complex;GO:0120259 7SK snRNP", "go_biological_process": "GO:1904871 positive regulation of protein localization to Cajal body;GO:1905382 positive regulation of snRNA transcription by RNA polymerase II;GO:0001510 RNA methylation;GO:0016073 snRNA metabolic process;GO:0040031 snRNA modification", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q7L2J0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1E2-1", "uniprot_id": [ { "id": "LYG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1E2", "type": "external" } ], "mass": 21431.0, "length": 194, "protein_name": "Lysozyme g-like protein 1", "gene_name": "LYG1", "organism": "Human", "refseq_name": "lysozyme g-like protein 1 precursor", "refseq_ac": [ { "id": "NP_777558", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777558", "type": "external" } ], "gene_names_uniprotkb": "LYG1; PRO4422", "gene_names_refseq": "LYG1; LYGA1; SALW1939", "protein_names_uniprotkb": "Lysozyme g-like protein 1; 3.2.1.-", "protein_names_refseq": "lysozyme G-like 1; lysozyme g-like protein 1 precursor; lysozyme g-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:129530)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "12574869;12975309", "class_list": "glycogene;glycosylhydrolase", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 211, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53RV9", "ec_number_list": [], "go_molecular_function": "GO:0003796 lysozyme activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0050830 defense response to Gram-positive bacterium;GO:0009253 peptidoglycan catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N1E2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6R0-5", "uniprot_id": [ { "id": "EFNMT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6R0", "type": "external" } ], "mass": 78768.0, "length": 699, "protein_name": "eEF1A lysine and N-terminal methyltransferase", "gene_name": "METTL13", "organism": "Human", "refseq_name": "eEF1A lysine and N-terminal methyltransferase isoform 3", "refseq_ac": [ { "id": "NP_001007240", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007240", "type": "external" } ], "gene_names_uniprotkb": "METTL13; CGI-01; EEF1AKNMT; FEAT; KIAA0859", "gene_names_refseq": "5630401D24Rik; CGI-01; DFNB26M; DFNB26; DFNM1; EEF1AKNMT; KIAA0859; METTL13; feat", "protein_names_uniprotkb": "eEF1A lysine and N-terminal methyltransferase; Methyltransferase-like protein 13; eEF1A-KNMT", "protein_names_refseq": "antiapoptotic protein FEAT; deafness (autosomal recessive, nonsyndromic) modifier 1; deafness (recessive, non-syndromic) modifier 1; deafness (recessive, nonsyndromic) modifier 1; eEF1A lysine and N-terminal methyltransferase isoform 3; eEF1A lysine and N-terminal methyltransferase; eEF1A-KNMT; faint expression in normal tissues, aberrant overexpression in tumors; methyltransferase 13, eEF1A lysine and N-terminal methyltransferase; methyltransferase like 13; methyltransferase-like protein 13", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); obsolete deafness, nonsyndromic, modifier 1 (MONDO:MONDO:0011554)", "pathway": " (hsa:51603)", "pathway_count": 1, "publication_count": 75, "publication_id_list": "12805671;18669648;18991276;21248752;23186163;23301498;23481700;24714562;24715725;25418920;25505266;25576301;26154972;26375851;26763933;26992070;27600516;27659353;27846572;27862975;27920218;28218747;28228285;28411811;28832583;28834231;28904123;29242379;29351928;29408807;29493099;29508533;29557506;29632711;29786170;30143613;30315122;30429286;30612740;30833945;31092671;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33985542;34171305;34211107;34357683;34561969;35051231;35318648;35580925;36735630;37217939;37938771;39334878;40596516", "class_list": "", "function": "Biological Relevance of Dual Lysine and N-Terminal Methyltransferase METTL13. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Dual methyltransferase that catalyzes methylation of elongation factor 1-alpha (EEF1A1 and EEF1A2) at two different positions, and is therefore involved in the regulation of mRNA translation (PubMed:30143613, PubMed:30612740). Via its C-terminus, methylates EEF1A1 and EEF1A2 at the N-terminal residue 'Gly-2' (PubMed:30143613). Via its N-terminus dimethylates EEF1A1 and EEF1A2 at residue 'Lys-55' (PubMed:30143613, PubMed:30612740). Has no activity towards core histones H2A, H2B, H3 and H4 (PubMed:30612740)., [UniProtKB, PubMed, PubMed]; METTL13 inhibits progression of clear cell renal cell carcinoma with repression on PI3K/AKT/mTOR/HIF-1alpha pathway and c-Myc expression. Publication Status: Online-Only, [RefSeq, PubMed]; METTL13 promotes nasopharyngeal carcinoma progression through regulating the ZEB1/TPT1 axis., [RefSeq, PubMed]; The DFNM1 gene modified the phenotype of a inherited deafness family possibly by silencing the DFNB26 mutated gene. Review article Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "risk", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NFK0;A8K6S5;O94940;Q53EZ6;Q5TGP9;Q5TGQ0;Q8N2P8;Q96J11;Q96SQ0;Q9Y2Z1;Q9Y3M6", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "2.1.1.359", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.359", "type": "external" }, { "id": "2.1.1.361", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.361", "type": "external" }, { "id": "2.1.1.355", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.355", "type": "external" }, { "id": "2.1.1.354", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.354", "type": "external" }, { "id": "2.1.1.362", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.362", "type": "external" } ], "go_molecular_function": "GO:0016279 protein-lysine N-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q8N6R0-5", "record_type": "protein", "filter_code": "0000100.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8E1-1", "uniprot_id": [ { "id": "MAAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8E1", "type": "external" } ], "mass": 13175.0, "length": 139, "protein_name": "Putative uncharacterized protein encoded by MAPKAPK5-AS1", "gene_name": "MAPKAPK5-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MAPKAPK5-AS1; C12orf47", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by MAPKAPK5-AS1; MAPKAPK5 antisense RNA 1; MAPKAPK5 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8N8E1-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KX0-1", "uniprot_id": [ { "id": "LYZL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KX0", "type": "external" } ], "mass": 16433.0, "length": 146, "protein_name": "Lysozyme-like protein 4", "gene_name": "LYZL4", "organism": "Human", "refseq_name": "lysozyme-like protein 4 precursor", "refseq_ac": [ { "id": "NP_001291315", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291315", "type": "external" } ], "gene_names_uniprotkb": "LYZL4; LYC4", "gene_names_refseq": "LYC4; LYZA; LYZL4", "protein_names_uniprotkb": "Lysozyme-like protein 4; Lysozyme-4", "protein_names_refseq": "lysozyme A; lysozyme-4; lysozyme-like protein 4 precursor; lysozyme-like protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:131375)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "16014814", "class_list": "glycogene;glycosylhydrolase", "function": "Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL4 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009]., [RefSeq]; May be involved in fertilization (By similarity). Has no detectable bacteriolytic and lysozyme activities in vitro (By similarity)., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 207, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003796 lysozyme activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum", "go_biological_process": "GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0009566 fertilization", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q96KX0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LZ2-1", "uniprot_id": [ { "id": "MAGBA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LZ2", "type": "external" } ], "mass": 38971.0, "length": 347, "protein_name": "Melanoma-associated antigen B10", "gene_name": "MAGEB10", "organism": "Human", "refseq_name": "melanoma-associated antigen B10", "refseq_ac": [ { "id": "NP_872312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872312", "type": "external" } ], "gene_names_uniprotkb": "MAGEB10", "gene_names_refseq": "MAGEB10", "protein_names_uniprotkb": "Melanoma-associated antigen B10; MAGE-B10 antigen", "protein_names_refseq": "MAGE family testis and tumor-specific protein; MAGE-B10 antigen; melanoma antigen family B, 10; melanoma antigen family B10; melanoma-associated antigen B10", "tax_id": 9606, "disease": "", "pathway": " (hsa:139422)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "32938616;33968037;34405274;34509645;35051231;36010968", "class_list": "", "function": "This gene encodes a member of the B subfamily of the melanoma associated antigen protein family. The encoded protein is specifically expressed in testis and tumor cells. [provided by RefSeq, Apr 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q494Y6;Q494Y7;Q9BZ78", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q96LZ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PG2-1", "uniprot_id": [ { "id": "M4A10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PG2", "type": "external" } ], "mass": 29747.0, "length": 267, "protein_name": "Membrane-spanning 4-domains subfamily A member 10", "gene_name": "MS4A10", "organism": "Human", "refseq_name": "membrane-spanning 4-domains subfamily A member 10", "refseq_ac": [ { "id": "NP_996776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_996776", "type": "external" } ], "gene_names_uniprotkb": "MS4A10; CD20L7; MS4A9", "gene_names_refseq": "CD20L7; MS4A10; MS4A9", "protein_names_uniprotkb": "Membrane-spanning 4-domains subfamily A member 10; CD20 antigen-like 7", "protein_names_refseq": "CD20 antigen-like 7; membrane-spanning 4-domains subfamily A member 10; membrane-spanning 4-domains, subfamily A, member 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:341116)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11486273;32938616;35580925", "class_list": "", "function": "May be involved in signal transduction as a component of a multimeric receptor complex., [UniProtKB]; Most MS4A genes, including MS4A10, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RP45;Q96PG3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96PG2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96T53-1", "uniprot_id": [ { "id": "MBOA4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96T53", "type": "external" } ], "mass": 49716.0, "length": 435, "protein_name": "Membrane-bound ghrelin O-acyltransferase MBOAT4", "gene_name": "MBOAT4", "organism": "Human", "refseq_name": "membrane-bound ghrelin O-acyltransferase MBOAT4", "refseq_ac": [ { "id": "NP_001094386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094386", "type": "external" } ], "gene_names_uniprotkb": "MBOAT4; FKSG89; GOAT; OACT4", "gene_names_refseq": "FKSG89; GOAT; MBOAT4; OACT4", "protein_names_uniprotkb": "Membrane-bound ghrelin O-acyltransferase MBOAT4; 2.3.1.-; Membrane-bound O-acyltransferase domain-containing protein 4; O-acyltransferase domain-containing protein 4", "protein_names_refseq": "O-acyltransferase (membrane bound) domain containing 4; O-acyltransferase domain-containing protein 4; ghrelin O-acyltransferase; membrane bound O-acyltransferase domain containing 4; membrane-bound O-acyltransferase domain-containing protein 4; membrane-bound ghrelin O-acyltransferase MBOAT4", "tax_id": 9606, "disease": "", "pathway": " (hsa:619373); (R-HSA-422085)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10604470;11089560;11600536;11756331;12050285;12354137;12414809;12553549;14599721;15126574;15142980;15256494;15604212;17289852;17595255;18396350;18443287;19280057;19327128;19479831;19628676;21035823;21150588;24045953;24397554;24715725;25562443;28134508;29437277;30256519;30297816;30597386;31844290;33103129;38341037;39894887", "class_list": "", "function": "Anorexia of ageing is associated with elevated fasted and lower post-prandial ghrelin, independent of ghrelin O-acyltransferase., [RefSeq, PubMed]; Based on the results of tjhis study concluded that genetic variation in GOAT might be implicated in the etiology of anorexia nervosa. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Catalyzes ghrelin acylation at 'Ser-3' using preferentially octanoyl-CoA, hexanoyl-CoA and decanoyl-CoA as acyl-CoA donors leading to ghrelin activity (PubMed:18443287, PubMed:24045953, PubMed:25562443, PubMed:28134508). In vitro also uses acyl-CoA donors of different lengths from short-chain (C2) to long-chain fatty acids (C16) knowing that acyl-CoA donors from butanoyl-CoA (C4) to dodecanoyl-CoA (C12) are more efficient compared to longer acyl-CoA donors, such as myristoyl-CoA (C14) and palmitoyl-CoA (C16) that are not efficient (PubMed:18443287)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; GOAT was expressed in human immortalized chondrocyte cell lines and in human cultured primary chondrocytes., [RefSeq, PubMed]; GOAT was significantly overexpressed in gastroenteropancreatic tumor samples compared to adjacent non-tumor tissue Publication Status: Online-Only, [RefSeq, PubMed]; GOAT-levels could also represent a novel predictive biomarker of aggressiveness, as its levels are positively associated with Gleason Score and the presence of metastasis at the time of diagnoses., [RefSeq, PubMed]; MBOAT4 expression is significantly increased in Japanese patients with schizophrenia compared to controls., [RefSeq, PubMed]; Modulation of GOAT or ghrelin signaling may be a clinically relevant strategy to treat metabolic diseases such as type II diabetes. Review article, [RefSeq, PubMed]; The identification and characterization of human GOAT, the ghrelin O-acyl transferase, is reported., [RefSeq, PubMed]; The presence of PC and GOAT in the cells, as well as n-octanoic acid in the culture medium, was necessary to produce n-octanoyl ghrelin., [RefSeq, PubMed]; Unacylated-Ghrelin Impairs Hippocampal Neurogenesis and Memory in Mice and Is Altered in Parkinson's Dementia in Humans. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1Q003", "ec_number_list": [ { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.91", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.91", "type": "external" } ], "go_molecular_function": "GO:0016747 acyltransferase activity, transferring groups other than amino-acyl groups;GO:0008374 O-acyltransferase activity;GO:0016412 serine O-acyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0016486 peptide hormone processing;GO:0018191 peptidyl-serine octanoylation;GO:0030258 lipid modification", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q96T53-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZ81-1", "uniprot_id": [ { "id": "MAGB5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZ81", "type": "external" } ], "mass": 31906.0, "length": 275, "protein_name": "Melanoma-associated antigen B5", "gene_name": "MAGEB5", "organism": "Human", "refseq_name": "melanoma-associated antigen B5", "refseq_ac": [ { "id": "NP_001258681", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258681", "type": "external" } ], "gene_names_uniprotkb": "MAGEB5", "gene_names_refseq": "CT3.3; MAGE-B5; MAGEB5", "protein_names_uniprotkb": "Melanoma-associated antigen B5; CT3.3; Cancer/testis antigen 3.3; MAGE-B5 antigen", "protein_names_refseq": "MAGE family testis and tumor-specific protein; MAGE-B5 antigen; cancer/testis antigen 3.3; cancer/testis antigen family 3, member 3; melanoma antigen family B, 5; melanoma antigen family B5; melanoma-associated antigen B5", "tax_id": 9606, "disease": "", "pathway": " (hsa:347541)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "10861452", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9BZ81-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCI5-1", "uniprot_id": [ { "id": "MAGE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCI5", "type": "external" } ], "mass": 103254.0, "length": 957, "protein_name": "Melanoma-associated antigen E1", "gene_name": "MAGEE1", "organism": "Human", "refseq_name": "melanoma-associated antigen E1", "refseq_ac": [ { "id": "NP_065983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065983", "type": "external" } ], "gene_names_uniprotkb": "MAGEE1; HCA1; KIAA1587", "gene_names_refseq": "DAMAGE; HCA1; MAGEE1", "protein_names_uniprotkb": "Melanoma-associated antigen E1; Alpha-dystrobrevin-associated MAGE Protein; DAMAGE; Hepatocellular carcinoma-associated protein 1; MAGE-E1 antigen", "protein_names_refseq": "MAGE-E1 antigen; alpha-dystrobrevin-associated MAGE Protein; dystrobrevin-associated MAGE protein; hepatocellular carcinoma-associated HCA1; hepatocellular carcinoma-associated protein 1; melanoma antigen family E, 1; melanoma antigen family E1; melanoma-associated antigen E1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57692)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "14623885;16959974;20862285;20864041;23092983;23268337;25892735;28832583;29242379;29393594;29557506;29632046;29769354;30379171;30429286;31154438;31530632;31844290;31848261;32157095;32488085;32502341;33298915;33392160;33592498;33912179;33968037;34171305;34561969;35051231;35580925;36010968;36581221;37938771", "class_list": "", "function": "A new dystrobrevin-associated protein that may play a signaling role in brain, muscle, and peripheral nerve, [RefSeq, PubMed]; Data suggest that lipid homeostasis may be altered in carriers of selected HCA1 missense variants., [RefSeq, PubMed]; May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[PLoS One. 2010;5(11). doi: 10.1371/annotation/3ee2788f-0c44-429f-85c3-d626c9fedc21] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an alpha-dystrobrevin-associated MAGE (melanoma-associated antigen) protein, which is a member of the MAGE family. The protein contains a nuclear localization signal in the N-terminus, 30 12-amino acid repeats beginning at nt 60 with the consensus sequence ASEGPSTSVLPT, and two MAGE domains in the C-terminus. It may play a signaling role in brain, muscle, and peripheral nerve. This gene is located on X chromosome in a region containing loci linked to cognitive disability. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 11, "predicted_n_glycosites": 0, "predicted_o_glycosites": 11, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q5JXC7;Q86TG0;Q8TD92;Q9H216", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045211 postsynaptic membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9HCI5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2V4-1", "uniprot_id": [ { "id": "LRIT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2V4", "type": "external" } ], "mass": 68041.0, "length": 623, "protein_name": "Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1", "gene_name": "LRIT1", "organism": "Human", "refseq_name": "leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1 precursor", "refseq_ac": [ { "id": "NP_056428", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056428", "type": "external" } ], "gene_names_uniprotkb": "LRIT1; LRRC21; PAL", "gene_names_refseq": "FIGLER9; LRIT1; LRRC21; PAL", "protein_names_uniprotkb": "Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1; Leucine-rich repeat-containing protein 21; Photoreceptor-associated LRR superfamily protein; Retina-specific protein PAL", "protein_names_refseq": "fibronectin type III, immunoglobulin and leucine rich repeat domains 9; leucine rich repeat containing 21; leucine-rich repeat, immunoglobulin-like and transmembrane domains 1; leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1 precursor; leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1; leucine-rich repeat-containing protein 21; photoreceptor-associated LRR superfamily protein; retina-specific protein PAL", "tax_id": 9606, "disease": "", "pathway": " (hsa:26103)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10777785;16385451;17081983;17286855;20068231;20237496;20800603;28904123;29557506;31844290;33912179;35051231;38665916", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; Photoreceptor synaptic protein essential for normal vision (By similarity). Involved in synapse formation in cone photoreceptor cells (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q0QD41;Q9Y4N7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0030425 dendrite;GO:0045202 synapse;GO:0005789 endoplasmic reticulum membrane;GO:0043083 synaptic cleft", "go_biological_process": "GO:0007601 visual perception", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9P2V4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MUH7-1", "uniprot_id": [ { "id": "PDZ1P_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MUH7", "type": "external" } ], "mass": 44056.0, "length": 402, "protein_name": "Putative PDZ domain-containing protein PDZK1P1", "gene_name": "PDZK1P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PDZK1P1; PDZK1P2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative PDZ domain-containing protein PDZK1P1; PDZ domain-containing 1 pseudogene 1; PDZ domain-containing 1 pseudogene 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "hypophosphatemic nephrolithiasis/osteoporosis 2 (Disease Ontology:DOID:0080078)", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "29557506", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0016324 apical plasma membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A8MUH7-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H999-1", "uniprot_id": [ { "id": "PANK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H999", "type": "external" } ], "mass": 41094.0, "length": 370, "protein_name": "Pantothenate kinase 3", "gene_name": "PANK3", "organism": "Human", "refseq_name": "pantothenate kinase 3", "refseq_ac": [ { "id": "NP_078870", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078870", "type": "external" } ], "gene_names_uniprotkb": "PANK3", "gene_names_refseq": "PANK3", "protein_names_uniprotkb": "Pantothenate kinase 3; 2.7.1.33; Pantothenic acid kinase 3; hPanK3", "protein_names_refseq": "hPanK3; pantothenate kinase 3; pantothenic acid kinase 3", "tax_id": 9606, "disease": "pantothenate kinase-associated neurodegeneration (Disease Ontology:DOID:3981)", "pathway": " (hsa:79646); (R-HSA-196783)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "11237011;11479594;11923312;11994049;12095677;12554685;12906824;14514684;14523052;15105273;15581364;15893380;16040613;16272150;17242360;17631502;20797618;23152917;25418920;25576301;26375851;26992070;27555321;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29557506;29632046;30315122;30410026;30429286;30927326;31092671;31844290;31848261;31998317;32157095;32357974;32387766;32938616;32983136;33537174;33592498;33912179;33936100;33968037;34171305;34405274;35051231;36983025;37938771;38253038", "class_list": "", "function": "Analysis of the homodimeric structures of the catalytic cores of PanK1alpha and PanK3 in complex with acetyl-CoA and the the structural effects of the PanK2 mutations that have been implicated in neurodegeneration, [RefSeq, PubMed]; Biochemical analyses showed that the transition between the inactive and active conformations, as assessed by the binding of either ATP.Mg(2+) or acyl-CoA to PANK3, is highly cooperative indicating that both protomers move in concert., [RefSeq, PubMed]; Catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DQL1;Q53FJ9;Q7RTX4", "ec_number_list": [ { "id": "2.7.1.33", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.33", "type": "external" } ], "go_molecular_function": "GO:0019842 vitamin binding;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0004594 pantothenate kinase activity;GO:1905502 acetyl-CoA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0016310 phosphorylation;GO:0015937 coenzyme A biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9H999-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPG4-1", "uniprot_id": [ { "id": "PCD12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPG4", "type": "external" } ], "mass": 128995.0, "length": 1184, "protein_name": "Protocadherin-12", "gene_name": "PCDH12", "organism": "Human", "refseq_name": "protocadherin-12 precursor", "refseq_ac": [ { "id": "NP_057664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057664", "type": "external" } ], "gene_names_uniprotkb": "PCDH12; PRO731", "gene_names_refseq": "DMJDS1; PCDH12; VE-cadherin-2; VECAD2", "protein_names_uniprotkb": "Protocadherin-12; VE-cad-2; VE-cadherin-2; Vascular cadherin-2; Vascular endothelial cadherin-2", "protein_names_refseq": "VE-cad-2; VE-cadherin 2; protocadherin-12 precursor; vascular cadherin-2; vascular endothelial cadherin 2", "tax_id": 9606, "disease": "diencephalic-mesencephalic junction dysplasia syndrome 1 (MONDO:MONDO:0009625)", "pathway": " (hsa:51294)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10716726;11063261;11237011;12975309;21402705;24275569;27164683;27862975;28228285;28804758;29557506;30429286;30459171;30459466;31154438;31492838;31611695;31848261;32157095;33527719;34087483;34773825;34929393;35051231;37536661;37938771", "class_list": "", "function": "Asynchronous presentation and evolution of homozygous PCDH12 variant-induced exudative retinopathy in two siblings., [RefSeq, PubMed]; Cellular adhesion molecule that may play an important role in cell-cell interactions at interendothelial junctions (By similarity). Acts as a regulator of cell migration, probably via increasing cell-cell adhesion (PubMed:21402705). Promotes homotypic calcium-dependent aggregation and adhesion and clusters at intercellular junctions (By similarity). Unable to bind to catenins, weakly associates with the cytoskeleton (By similarity)., [UniProtKB, UniProtKB, PubMed]; Homozygous PCDH12 mutation is associated with cerebellar ataxia, dystonia, retinopathy, and dysmorphism., [RefSeq, PubMed]; Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants., [RefSeq, PubMed]; PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy., [RefSeq, PubMed]; The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature. Review article, [RefSeq, PubMed]; This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q6UXB6;Q96KB8;Q9H7Y6;Q9H8E0", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;GO:0008038 neuron recognition", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9NPG4-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "F5H284-1", "uniprot_id": [ { "id": "PAL4D_HUMAN", "url": "https://www.uniprot.org/uniprot/F5H284", "type": "external" } ], "mass": 18167.0, "length": 164, "protein_name": "Peptidyl-prolyl cis-trans isomerase A-like 4D", "gene_name": "PPIAL4D", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase A-like 4D", "refseq_ac": [ { "id": "NP_001157733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157733", "type": "external" } ], "gene_names_uniprotkb": "PPIAL4D", "gene_names_refseq": "PPIAL4D", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase A-like 4D; 5.2.1.8; PPIase A-like 4D", "protein_names_refseq": "PPIase A-like 4D; peptidyl-prolyl cis-trans isomerase A-like 4D; peptidylprolyl isomerase A (cyclophilin A)-like 4D", "tax_id": 9606, "disease": "", "pathway": " (hsa:645142)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0016018 cyclosporin A binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "F5H284-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCG2-1", "uniprot_id": [ { "id": "P4K2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCG2", "type": "external" } ], "mass": 54744.0, "length": 481, "protein_name": "Phosphatidylinositol 4-kinase type 2-beta", "gene_name": "PI4K2B", "organism": "Human", "refseq_name": "phosphatidylinositol 4-kinase type 2-beta", "refseq_ac": [ { "id": "NP_060793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060793", "type": "external" } ], "gene_names_uniprotkb": "PI4K2B", "gene_names_refseq": "PI4K2B; PI4KIIB; PIK42B", "protein_names_uniprotkb": "Phosphatidylinositol 4-kinase type 2-beta; 2.7.1.67; PI4KII-BETA; Phosphatidylinositol 4-kinase type II-beta", "protein_names_refseq": "PI4KII-BETA; phosphatidylinositol 4-kinase type 2-beta; phosphatidylinositol 4-kinase type-II beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:55300); (R-HSA-1483248); (R-HSA-1660499); (R-HSA-1660514); (R-HSA-1660516)", "pathway_count": 5, "publication_count": 170, "publication_id_list": "10101268;10194451;10224048;10419465;10555148;10559940;10567352;10593988;10753883;10764818;10766823;10805725;10806194;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11604140;11676921;11706043;11716755;11733541;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12668758;12808147;12847086;12847286;14516276;14527956;14530412;14617813;14659893;14660569;15080793;15107860;15135396;15464023;15716355;15797027;15840652;16154996;16337488;16399794;16476736;16522682;1655747;16787938;16914545;16949365;16979564;17008356;17245604;17555535;17556371;17651088;18093523;18292551;18524850;18753295;18767875;18950639;19038970;19211563;19369195;19668216;19896968;20534812;21081650;21204784;21654843;22037487;22647598;23481700;23519112;23619705;23758345;23818870;24275569;24481753;24714562;24972704;25418920;25495341;25502872;25522275;25869668;26143926;26496610;26811146;26992070;27068535;27090790;27846572;27920218;28063628;28218747;28228285;28467828;28832583;28834231;29242379;29393594;29437277;29493099;29557506;29632046;29632711;30315122;30410026;30573663;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33298915;33592498;33717175;33912179;33936100;33968037;34357683;34509645;34561969;34932366;35051231;35154160;36010968;7608176;7624799;7628435;7761412;8634694;8681945;8723348;8769125;8999962;9094719;9113989;9148941;9211928;9286278;9295334;9367159;9405935;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063;9878262", "class_list": "", "function": "Canonical tyrosine residues mutation in FcepsilonRIgamma ITAM (Y65 and Y76) reveals that these two tyrosine residues in gamma subunit are required for its interaction with type II PtdIns 4-kinases., [RefSeq, PubMed]; Here two crystal structures are presented: the structure of human PIK42A and the structure of PIK42B containing a nucleoside analogue., [RefSeq, PubMed]; RNA interference of the type II phosphatidylinositol 4-kinases PI4KIIa and PI4KIIa in primary human endothelial cells leads to formation of an increased proportion of short WPB with perturbed packing of VWF, as exemplified by increased exposure of antibody-binding sites., [RefSeq, PubMed]; Results provide evidence that type II PtdIns 4-kinase b was indeed recruited to CD4- p56lck complex upon CD4 receptor cross linking, suggests a mechanism for its association and a role for it in CD4-mediated intracellular calcium release., [RefSeq, PubMed]; This gene encodes a member of the type II PI4 kinase protein family. The encoded protein is primarily cytosolic and contributes to overall PI4-kinase activity along with other protein family members. This protein is involved in early T cell activation. [provided by RefSeq, Dec 2016]., [RefSeq]; Together with PI4K2A and the type III PI4Ks (PIK4CA and PIK4CB) it contributes to the overall PI4-kinase activity of the cell (PubMed:11923287, PubMed:12324459). This contribution may be especially significant in plasma membrane, endosomal and Golgi compartments (PubMed:11923287, PubMed:12324459). The phosphorylation of phosphatidylinositol (PI) to PI4P is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3) (PubMed:11923287, PubMed:12324459). Contributes to the production of InsP3 in stimulated cells and is likely to be involved in the regulation of vesicular trafficking., [UniProtKB, PubMed, PubMed]; Type II PtdIns 4-kinase beta interacts with TCR-CD3 zeta chain. The C-terminal ITAM is critical for enzyme docking on the zeta chain. The association is tyrosyl phosphorylation dependent. Mutation of Y-151 & Y-142 disrupts interaction of the 2 proteins., [RefSeq, PubMed]; Type II PtdIns 4-kinase beta is a key component in early T cell activation signaling cascades, [RefSeq, PubMed]; UV irradiation increases nuclear PtdIns5P levels via inhibition of the activity of the beta isoform of PtdIns5P 4-kinase (PIP4Kbeta), an enzyme that can phosphorylate and remove PtdIns5P., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NUW2", "ec_number_list": [ { "id": "2.7.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.67", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004430 1-phosphatidylinositol 4-kinase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007032 endosome organization;GO:0006661 phosphatidylinositol biosynthetic process;GO:0007030 Golgi organization;GO:0046854 phosphatidylinositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "Q8TCG2-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15546-1", "uniprot_id": [ { "id": "PAQRB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15546", "type": "external" } ], "mass": 27667.0, "length": 238, "protein_name": "Monocyte to macrophage differentiation factor", "gene_name": "MMD", "organism": "Human", "refseq_name": "monocyte to macrophage differentiation factor", "refseq_ac": [ { "id": "NP_036461", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036461", "type": "external" } ], "gene_names_uniprotkb": "MMD; PAQR11", "gene_names_refseq": "MMA; MMD1; MMD; PAQR11", "protein_names_uniprotkb": "Monocyte to macrophage differentiation factor; Progestin and adipoQ receptor family member 11; Progestin and adipoQ receptor family member XI", "protein_names_refseq": "macrophage maturation-associated; monocyte to macrophage differentiation factor; monocyte to macrophage differentiation protein; progestin and adipoQ receptor family member 11; progestin and adipoQ receptor family member XI", "tax_id": 9606, "disease": "systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:23531)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;16044242;20058876;20237496;21968647;25505266;25892735;27397612;27869652;28218747;28514659;29437277;29632046;29769354;30315122;31684818;31844290;33421113;33717175;36581221;37691145;7503749", "class_list": "", "function": "Expression of PBX1 and MMD was higher in the second trimester among lupus patients who experienced a poor pregnancy outcome compared to those who did not. The pilot study identified two candidate genes that are reflective of the platelet function response to aspirin., [RefSeq, PubMed]; High PAQR11 levels were correlated with epithelial-to-mesenchymal transition (EMT) and shorter survival in human cancers, and PAQR11 was found to be essential for tumor cell migration and metastasis in EMT-driven lung adenocarcinoma models., [RefSeq, PubMed]; Involved in the dynamics of lysosomal membranes associated with microglial activation following brain lesion., [UniProtKB]; MMD collaborates with ACSL4 and MBOAT7 to promote polyunsaturated phosphatidylinositol remodeling and susceptibility to ferroptosis., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PAQR11 modulates monocyte-to-macrophage differentiation and pathogenesis of rheumatoid arthritis., [RefSeq, PubMed]; This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. [provided by RefSeq, Jul 2008]., [RefSeq]; This study uncovers a new paradigm of spatial regulation of Ras signaling in the Golgi apparatus by PAQR10 and PAQR11., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6X9;D3DTY6;Q8TAN7", "ec_number_list": [], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0038023 signaling receptor activity;GO:0140911 pore-forming activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0045666 positive regulation of neuron differentiation;GO:0045860 positive regulation of protein kinase activity;GO:0032880 regulation of protein localization", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q15546-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5R387-1", "uniprot_id": [ { "id": "PA2GC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5R387", "type": "external" } ], "mass": 16844.0, "length": 149, "protein_name": "Putative inactive group IIC secretory phospholipase A2", "gene_name": "PLA2G2C", "organism": "Human", "refseq_name": "putative inactive group IIC secretory phospholipase A2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001354898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001354898", "type": "external" } ], "gene_names_uniprotkb": "PLA2G2C", "gene_names_refseq": "PLA2G2C; UBXN10-AS1", "protein_names_uniprotkb": "Putative inactive group IIC secretory phospholipase A2; Phosphatidylcholine 2-acylhydrolase-like protein GIIC", "protein_names_refseq": "UBXN10 antisense RNA 1; phosphatidylcholine 2-acylhydrolase-like protein GIIC; phospholipase A2, group IIC (possible pseudogene); putative inactive group IIC secretory phospholipase A2 isoform 2 precursor; putative inactive group IIC secretory phospholipase A2", "tax_id": 9606, "disease": "", "pathway": " (hsa:391013)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;26992070;2708461;35034539;39894887", "class_list": "", "function": "Inactive phospholipase., [UniProtKB]; LncRNA ubiquitin-binding protein domain protein 10 antisense RNA 1 inhibits colon adenocarcinoma progression via the miR-515-5p/slit guidance ligand 3 axis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7M4M6", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005543 phospholipid binding;GO:0005509 calcium ion binding;GO:0004623 phospholipase A2 activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0016042 lipid catabolic process;GO:0050482 arachidonate secretion;GO:0046470 phosphatidylcholine metabolic process;GO:0046471 phosphatidylglycerol metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q5R387-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43252-1", "uniprot_id": [ { "id": "PAPS1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43252", "type": "external" } ], "mass": 70833.0, "length": 624, "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "gene_name": "PAPSS1", "organism": "Human", "refseq_name": "bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "refseq_ac": [ { "id": "NP_005434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005434", "type": "external" } ], "gene_names_uniprotkb": "PAPSS1; ATPSK1; PAPSS", "gene_names_refseq": "ATPSK1; PAPSS1; PAPSS; SK1", "protein_names_uniprotkb": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1; 3'-phosphoadenosine-5'-phosphosulfate synthase; APS kinase; ATP-sulfurylase; Adenosine-5'-phosphosulfate 3'-phosphotransferase; Adenylylsulfate 3'-phosphotransferase; PAPS synthase 1; PAPSS 1; SAT; SK 1; SK1; Sulfate adenylate transferase; Sulfurylase kinase 1", "protein_names_refseq": "3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 1; PAPS synthase 1; PAPSS 1; SK 1; adenylyl-sulfate kinase; bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1; sulfate adenylyltransferase; sulfurylase kinase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9061); (R-HSA-174362); (R-HSA-2408550); (R-HSA-6802952)", "pathway_count": 4, "publication_count": 112, "publication_id_list": "10455115;10679223;12626430;12713736;12716889;12759755;1321713;14747722;15630448;15755455;16492677;17276460;17540769;18974108;20068231;20526349;21424530;22223895;22745804;23506885;23583981;24135138;24345920;24366607;24715725;25204415;2537056;25576301;25645385;25880248;25907612;26154972;26992070;27600516;27846572;27862975;27920218;27941888;28063628;28228285;28446606;28510447;28514659;28790117;28832583;28834231;28904123;29242379;29331515;29393594;29557506;29632046;29769354;29786170;30315122;30429286;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;33214551;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34561969;34725712;34932366;35051231;35138101;35251023;35318648;35325049;35580925;36010968;36241641;36284347;36734141;37684671;37938771;38665916;7923357;8300633;8619989;9576487;9648242;9668121;9771708;9915785", "class_list": "glycogene", "function": "Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway (PubMed:14747722, PubMed:9576487, PubMed:9648242, PubMed:9668121). Required for normal biosynthesis of sulfated L-selectin ligands in endothelial cells (PubMed:9576487)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Correlation of 3'-phosphoadenosine-5'-phosphosulfate synthase 1 (PAPSS1) expression with clinical parameters and prognosis in esophageal squamous cell carcinoma., [RefSeq, PubMed]; The PAPSS1 gene is a modulator of response to cisplatin by regulating estrogen receptor alpha signaling activity in ovarian cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest that PAPSS1 inhibition enhances cisplatin activity in multiple preclinical model systems and that low PAPSS1 expression may serve as a biomarker for platin sensitivity in cancer patients. Developing strategies to target PAPSS1 activity in conjunction with platinum-based chemotherapy may offer an approach to improving treatment outcomes, [RefSeq, PubMed]; Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM, Mar 2008]., [RefSeq]; We found that ectopic expression of oncogenic KRas and HRas in cells resulted in elevated CIB1 expression. We previously described the Ca(2+)-myristoyl switch function of CIB1, and its ability to facilitate agonist-induced plasma membrane localisation of sphingosine kinase 1 (SK1), a location where SK1 is known to elicit oncogenic signalling., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 687, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O43841;O75332;Q6IAX6;Q96FB1;Q96TF4;Q9P1P9;Q9UE98", "ec_number_list": [ { "id": "2.7.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.25", "type": "external" }, { "id": "2.7.7.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.4", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0016779 nucleotidyltransferase activity;GO:0004020 adenylylsulfate kinase activity;GO:0004781 sulfate adenylyltransferase (ATP) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0001501 skeletal system development;GO:0000103 sulfate assimilation;GO:0050428 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "O43252-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01213-1", "uniprot_id": [ { "id": "PDYN_HUMAN", "url": "https://www.uniprot.org/uniprot/P01213", "type": "external" } ], "mass": 28385.0, "length": 254, "protein_name": "Proenkephalin-B", "gene_name": "PDYN", "organism": "Human", "refseq_name": "proenkephalin-B preproprotein", "refseq_ac": [ { "id": "NP_001177821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177821", "type": "external" } ], "gene_names_uniprotkb": "PDYN", "gene_names_refseq": "ADCA; PDYN; PENKB; SCA23", "protein_names_uniprotkb": "Proenkephalin-B; Beta-neoendorphin-dynorphin; Dyn-B; Dynorphin B(1-13); Dynorphin B-29; Dynorphin B; Preprodynorphin", "protein_names_refseq": "beta-neoendorphin-dynorphin; leu-enkephalin; leumorphin; neoendorphin-dynorphin-enkephalin prepropeptide; preprodynorphin; preproenkephalin B; proenkephalin-B preproprotein; proenkephalin-B; rimorphin", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); spinocerebellar ataxia 23 (Disease Ontology:DOID:0050973); withdrawal disorder (Disease Ontology:DOID:0060001); Parkinsonism (Disease Ontology:DOID:0080855); traumatic brain injury (Disease Ontology:DOID:0081292); opioid abuse (Disease Ontology:DOID:11206); major depressive disorder (Disease Ontology:DOID:1470); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); epilepsy (Disease Ontology:DOID:1826); transient cerebral ischemia (Disease Ontology:DOID:224); opiate dependence (Disease Ontology:DOID:2559); morphine dependence (Disease Ontology:DOID:2560); temporal lobe epilepsy (Disease Ontology:DOID:3328); congestive heart failure (Disease Ontology:DOID:6000); amphetamine abuse (Disease Ontology:DOID:670); cocaine abuse (Disease Ontology:DOID:809); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:5173); (R-HSA-111885); (R-HSA-202040); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 5, "publication_count": 129, "publication_id_list": "10079109;10100623;10215864;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11237011;11322507;11385580;11457843;11562423;11683476;11773063;11786497;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15272312;15539556;1567413;15947423;15951850;16415903;16515546;1655761;16634148;16682505;16892066;16923326;1710450;1710578;1719979;1722333;17316701;18127230;18434541;1847994;18577758;21035104;21712028;23108490;23446738;23471613;23690594;24906252;2534964;2649896;2748346;27496565;2834384;31510971;3202875;32526201;32597371;3366244;3525564;37177778;3856870;6274691;6281660;6316163;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7718742;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8073283;8185599;8201839;8208289;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8521505;8615752;8666380;8702752;873923;8823230;9047294;9171878;9521323;9530155;9544801;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Alpha-neoendorphin can reduce UVB-induced skin photoaging by activating cellular autophagy., [RefSeq, PubMed]; Dynorphin peptides differentially regulate the kappa opioid receptor. Dynorphin A(1-13) has a typical opioid activity, it is 700 times more potent than Leu-enkephalin (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Effect of PDYN and OPRK1 polymorphisms on the risk of alcohol use disorder and the intensity of depressive symptoms., [RefSeq, PubMed]; In this meta-analysis, a significant association was found between rs1022563 prodynorphin gene polymorphism and opioid dependence among Asian populations. Publication Status: Online-Only, [RefSeq, PubMed]; Leu-enkephalins compete with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Leumorphin has a typical opioid activity and may have anti-apoptotic effect., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Prodynorphin (PDYN) gene polymorphisms in Turkish patients with methamphetamine use disorder, changes in PDYN serum levels in withdrawal and the relationship between PDYN, temperament and depression., [RefSeq, PubMed]; The protein encoded by this gene is a preproprotein that is proteolytically processed to form the secreted opioid peptides beta-neoendorphin, dynorphin, leu-enkephalin, rimorphin, and leumorphin. These peptides are ligands for the kappa-type of opioid receptor. Dynorphin is involved in modulating responses to several psychoactive substances, including cocaine. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 21, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0Q3", "ec_number_list": [], "go_molecular_function": "GO:0031628 opioid receptor binding;GO:0001515 opioid peptide activity", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:0007218 neuropeptide signaling pathway;GO:0007268 chemical synaptic transmission;GO:0007600 sensory perception", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P01213-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47712-1", "uniprot_id": [ { "id": "PA24A_HUMAN", "url": "https://www.uniprot.org/uniprot/P47712", "type": "external" } ], "mass": 85239.0, "length": 749, "protein_name": "Cytosolic phospholipase A2", "gene_name": "PLA2G4A", "organism": "Human", "refseq_name": "cytosolic phospholipase A2 isoform 1", "refseq_ac": [ { "id": "NP_077734", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077734", "type": "external" } ], "gene_names_uniprotkb": "PLA2G4A; CPLA2; PLA2G4", "gene_names_refseq": "GURDP; PLA2G4A; PLA2G4; cPLA2-alpha; cPLA2", "protein_names_uniprotkb": "Cytosolic phospholipase A2; Phosphatidylcholine 2-acylhydrolase; Phospholipase A2 group IVA; cPLA2", "protein_names_refseq": "calcium-dependent phospholipid-binding protein; cytosolic phospholipase A2 isoform 1; cytosolic phospholipase A2; lysophospholipase; phosphatidylcholine 2-acylhydrolase; phospholipase A2, group IVA (cytosolic, calcium-dependent)", "tax_id": 9606, "disease": "polycystic kidney disease (Disease Ontology:DOID:0080322); brain ischemia (Disease Ontology:DOID:2316); papilloma (Disease Ontology:DOID:2615); transitional cell carcinoma (Disease Ontology:DOID:2671); asthma (Disease Ontology:DOID:2841); hyperglycemia (Disease Ontology:DOID:4195); cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (MONDO:MONDO:0018794)", "pathway": " (hsa:5321); (R-HSA-111995); (R-HSA-1482788); (R-HSA-1482798); (R-HSA-1482801); (R-HSA-1482839); (R-HSA-1482922); (R-HSA-1482925); (R-HSA-1483115); (R-HSA-1483166); (R-HSA-2142753); (R-HSA-418592); (R-HSA-432142); (R-HSA-6811436)", "pathway_count": 14, "publication_count": 260, "publication_id_list": "10085124;10092508;10092647;10196188;10319815;10336645;10358058;10359595;10455175;10491174;10506173;10553003;10559986;10562278;10567216;10681567;10754332;10759852;10978317;11031251;11080672;11112443;11375391;11416127;11479288;11483508;11788596;11790796;11830583;12063250;12150957;12161451;12359733;12401177;12432908;12444032;12447383;12522102;12672805;12775720;12885780;12925777;12963729;14551214;14573790;14709560;14742685;15152008;15367102;15459198;15483056;15485873;15671038;15695510;15863501;15897321;15914536;15944408;1618844;16207721;16243729;16301670;16314391;16375935;16460752;16495223;16617059;16620771;16704971;16818490;16864775;16959974;16964243;17015445;17028579;17081983;17082194;17101204;17170135;17182612;17322306;17339487;17472963;17488286;17707131;17725579;17827179;18065419;18083107;18088087;18094042;18195019;18212344;18238778;18287005;18451993;18452278;18458083;18577758;18614531;18641641;18664496;18669648;1869522;18718904;18767875;18772128;18781350;19019078;1904318;19075029;19162293;19336658;19351971;19401382;19416660;19501189;19554302;19625654;19635840;19651622;19664994;19666841;19718435;19737925;19753100;19778898;19843712;19926788;20025994;20044029;20068231;20211985;20420828;20667012;20705608;21173190;21220512;21247147;21406692;21515882;21746768;22130221;22544926;22562055;22605381;22777291;22825852;22906437;22922100;23176821;23176823;23186163;23268370;23333653;23481700;23783758;23807634;23934110;24693448;24715725;24891604;24966474;25102815;25233431;25453831;25645385;25893499;26154972;26206935;26416244;26463208;26503625;26711011;26992070;27642067;27819025;27846572;27862975;27920218;27977772;28063628;28218747;28228285;28832583;28904123;28993924;29242379;2925608;2925633;29393594;29437277;29508533;29557506;29632046;29786170;30315122;30429286;31844290;32157095;32161166;32265295;32387766;32502341;32559461;32938616;32983136;33141586;33247192;33298915;33717175;34171305;34509645;3458202;34932366;35051231;35408744;35580925;36241641;36284347;38253038;38367927;38454407;6810878;7060561;7766652;7794891;7821823;7954810;8083230;8163052;8186247;8300559;8381049;8530346;8619991;8636128;8687421;8702602;8706669;8733591;8777586;8910365;9030515;9050864;9115999;9188469;9212163;9417066;9425121;9430701;9461603;9468497;9487141;9525960;9582313;9665851;9671731;9705332;9733780", "class_list": "", "function": "Has primarily calcium-dependent phospholipase and lysophospholipase activities, with a major role in membrane lipid remodeling and biosynthesis of lipid mediators of the inflammatory response (PubMed:10358058, PubMed:14709560, PubMed:16617059, PubMed:17472963, PubMed:18451993, PubMed:27642067, PubMed:7794891, PubMed:8619991, PubMed:8702602, PubMed:9425121). Plays an important role in embryo implantation and parturition through its ability to trigger prostanoid production (By similarity). Preferentially hydrolyzes the ester bond of the fatty acyl group attached at sn-2 position of phospholipids (phospholipase A2 activity) (PubMed:10358058, PubMed:17472963, PubMed:18451993, PubMed:7794891, PubMed:8619991, PubMed:9425121). Selectively hydrolyzes sn-2 arachidonoyl group from membrane phospholipids, providing the precursor for eicosanoid biosynthesis via the cyclooxygenase pathway (PubMed:10358058, PubMed:17472963, PubMed:18451993, PubMed:7794891, PubMed:9425121). In an alternative pathway of eicosanoid biosynthesis, hydrolyzes sn-2 fatty acyl chain of eicosanoid lysophopholipids to release free bioactive eicosanoids (PubMed:27642067). Hydrolyzes the ester bond of the fatty acyl group attached at sn-1 position of phospholipids (phospholipase A1 activity) only if an ether linkage rather than an ester linkage is present at the sn-2 position. This hydrolysis is not stereospecific (PubMed:7794891). Has calcium-independent phospholipase A2 and lysophospholipase activities in the presence of phosphoinositides (PubMed:12672805). Has O-acyltransferase activity. Catalyzes the transfer of fatty acyl chains from phospholipids to a primary hydroxyl group of glycerol (sn-1 or sn-3), potentially contributing to monoacylglycerol synthesis (PubMed:7794891)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; PLA2G4A and ACHE modulate lipid profiles via glycerophospholipid metabolism in platinum-resistant gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The ERK-cPLA2-ACSL4 axis mediating M2 macrophages ferroptosis impedes mucosal healing in ulcerative colitis., [RefSeq, PubMed]; This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 25, "reported_mutagensis": 31, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B1AKG4;Q29R80", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "2.3.1.43", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.43", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.1", "type": "external" }, { "id": "2.3.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.149", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0005509 calcium ion binding;GO:0004622 phosphatidylcholine lysophospholipase activity;GO:0004623 phospholipase A2 activity;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006690 icosanoid metabolic process;GO:0006663 platelet activating factor biosynthetic process;GO:0043032 positive regulation of macrophage activation;GO:0034638 phosphatidylcholine catabolic process;GO:0050482 arachidonate secretion", "synthesized_glycan_count": 0, "hit_score": 26.5, "record_id": "P47712-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54750-1", "uniprot_id": [ { "id": "PDE1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P54750", "type": "external" } ], "mass": 61252.0, "length": 535, "protein_name": "Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A", "gene_name": "PDE1A", "organism": "Human", "refseq_name": "dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 2", "refseq_ac": [ { "id": "NP_001003683", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003683", "type": "external" } ], "gene_names_uniprotkb": "PDE1A", "gene_names_refseq": "CAM-PDE 1A; CAM-PDE-1A; HCAM-1; HCAM1; HSPDE1A; PDE1A", "protein_names_uniprotkb": "Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A; 3.1.4.17; 61 kDa Cam-PDE; Cam-PDE 1A; hCam-1", "protein_names_refseq": "61 kDa Cam-PDE; calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A; calcium/calmodulin-stimulated cyclic nucleotide phosphodiesterase; dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 2; dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A; phosphodiesterase 1A, calmodulin-dependent", "tax_id": 9606, "disease": "", "pathway": " (hsa:5136); (R-HSA-111957); (R-HSA-418457); (R-HSA-418555)", "pathway_count": 4, "publication_count": 80, "publication_id_list": "11007482;11237011;11342109;11747989;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15272012;15765929;15769620;15951850;16313925;16687412;16923326;16959763;16990611;17168849;17726023;18044684;18335582;18577758;19105585;19664995;19876791;19929708;20381629;21036126;2163110;2417744;24687066;2491850;2553411;2553705;26417854;26464516;28132591;2871555;29262781;29393594;29443750;29557506;29602314;30379171;30429286;30833991;3127824;31279028;31399091;31844290;31848261;31983287;32161166;32226383;32497535;32540603;32618402;32715661;32938616;33049737;33298915;33592498;33981976;35051231;36010968;36241641;36580660;37125963;6085243;8340388;8514797;8557689;8672451;9263355;9417641;9651336", "class_list": "", "function": "Calcium/calmodulin-dependent cyclic nucleotide phosphodiesterase with a dual specificity for the second messengers cGMP and cAMP, which are key regulators of many important physiological processes. Has a higher efficiency with cGMP compared to cAMP., [UniProtKB, PubMed]; Cyclic nucleotide phosphodiesterases (PDEs) play a role in signal transduction by regulating intracellular cyclic nucleotide concentrations through hydrolysis of cAMP and/or cGMP to their respective nucleoside 5-prime monophosphates. Members of the PDE1 family, such as PDE1A, are Ca(2+)/calmodulin (see CALM1; MIM 114180)-dependent PDEs (CaM-PDEs) that are activated by calmodulin in the presence of Ca(2+) (Michibata et al., 2001 [PubMed 11342109]; Fidock et al., 2002 [PubMed 11747989]).[supplied by OMIM, Oct 2009]., [RefSeq]; Evidence that the rs182089527 mutation in PDE1A is involved in the development of nephrolithiasis and kidney cysts. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a Common Variant for Coronary Heart Disease at PDE1A Contributes to Individualized Treatment Goals and Risk Stratification of Cardiovascular Complications in Chinese Patients With Type 2 Diabetes., [RefSeq, PubMed]; Report significant associations of PDE1A single nucleotide polymorphisms with diastolic blood pressure and carotid intima-media thickness., [RefSeq, PubMed]; The p-substituted benzyl side chain at N2-position helps to enhance the PDE1 inhibitory profile. Depending on these observations, some new molecules are predicted that may possess better PDE1 inhibition, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DPG5;Q86VZ0;Q9C0K8;Q9C0K9;Q9C0L0;Q9C0L1;Q9C0L2;Q9C0L3;Q9C0L4;Q9UFX3", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.17", "type": "external" }, { "id": "3.1.4.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.53", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.6.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.25", "type": "external" }, { "id": "3.6.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.14", "type": "external" } ], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0046872 metal ion binding;GO:0004117 calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity;GO:0048101 calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0043025 neuronal cell body", "go_biological_process": "GO:0007165 signal transduction;GO:0048660 regulation of smooth muscle cell proliferation;GO:0034391 regulation of smooth muscle cell apoptotic process;GO:0046069 cGMP catabolic process;GO:0141162 negative regulation of cAMP/PKA signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P54750-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15365-1", "uniprot_id": [ { "id": "PCBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15365", "type": "external" } ], "mass": 37498.0, "length": 356, "protein_name": "Poly(rC)-binding protein 1", "gene_name": "PCBP1", "organism": "Human", "refseq_name": "poly(rC)-binding protein 1", "refseq_ac": [ { "id": "NP_006187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006187", "type": "external" } ], "gene_names_uniprotkb": "PCBP1", "gene_names_refseq": "HEL-S-85; HNRPE1; HNRPX; PCBP1; hnRNP-E1; hnRNP-X", "protein_names_uniprotkb": "Poly(rC)-binding protein 1; Alpha-CP1; Heterogeneous nuclear ribonucleoprotein E1; Nucleic acid-binding protein SUB2.3; hnRNP E1", "protein_names_refseq": "alpha-CP1; epididymis secretory protein Li 85; heterogeneous nuclear ribonucleoprotein E1; heterogenous nuclear ribonucleoprotein E1; heterogenous nuclear ribonucleoprotein X; nucleic acid-binding protein SUB2.3; poly(rC)-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5093); (R-HSA-72163); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 5, "publication_count": 281, "publication_id_list": "10.1101/2023.09.13.557529;10669729;10882114;11014198;11060040;11101529;11233976;11747608;11991638;12176931;12411573;12414731;12414943;12477934;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15302935;15565158;15731341;16314458;16809785;16964243;17081983;17095540;17128255;17322306;17332742;17389360;17606899;17924679;18288197;18322460;18452278;18491316;18593880;18669648;18691976;18767875;18991276;19007248;19103666;19165350;19217410;19413330;19415658;19536130;19615748;19651622;19664995;19690332;20058876;20068231;20154680;20230923;20423332;20695905;20980672;21295486;21406692;21536652;2176635;21911577;22110043;22299025;22365833;22424782;22645359;22813749;22898188;22959432;22961380;23186163;23222130;23236153;23285117;23301498;23345524;23481700;23719902;23783831;23874216;24072492;24076191;24149845;24196718;24275569;24304693;24316715;24366607;24407421;24448447;24715725;24737827;24819169;24914973;24981863;25301780;25301781;25502872;25555158;25576301;2558966;25645385;25810538;25892735;26092250;26154972;26375851;26385511;26420826;26768311;26969736;26992070;27108190;27377154;27452731;27459055;27600516;27648147;27655845;27683217;27846572;27862975;27920218;28062851;28076346;28096519;28218747;28228285;28337299;28446606;28467828;28502770;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29301961;29314611;29331515;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29789417;29902443;30086790;30139799;30192525;30257008;30315122;30315277;30429286;30444036;30484775;30524438;30573663;30599162;30626607;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31217245;31222486;31373491;31409651;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32816001;32897882;32938616;32983136;33043033;33123756;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34301950;34357683;34405274;34433824;34509645;34561969;34725712;34822310;34932366;35051231;35083852;35132862;35138101;35154160;35177536;35215846;35251023;35318648;35385551;35561310;35580925;35705054;35896897;36010968;36215666;36241641;36284347;37157950;37217939;37558923;3757028;37927213;37938771;38665916;40307207;40596516;40914422;7556077;7607214;8152927;8352591;8566756;8608946;9016565;9242493;9409616;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "(Microbial infection) In case of infection by poliovirus, plays a role in initiation of viral RNA replication in concert with the viral protein 3CD., [UniProtKB, PubMed]; Classification of IDH wild-type glioblastoma tumorspheres into low- and high-invasion groups based on their transcriptional program., [RefSeq, PubMed]; Overexpression of splicing factor poly(rC)-binding protein 1 elicits cycle arrest, apoptosis induction, and p73 splicing in human cervical carcinoma cells., [RefSeq, PubMed]; PCBP1 protects bladder cancer cells from mitochondria injury and ferroptosis by inducing LACTB mRNA degradation., [RefSeq, PubMed]; PCBP1 regulates LIFR through FAM3C to maintain breast cancer stem cell self-renewal and invasiveness., [RefSeq, PubMed]; Single-stranded nucleic acid binding protein that binds preferentially to oligo dC (PubMed:15731341, PubMed:7556077, PubMed:7607214, PubMed:8152927). Together with PCBP2, required for erythropoiesis, possibly by regulating mRNA splicing (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This intronless gene is thought to have been generated by retrotransposition of a fully processed PCBP-2 mRNA. This gene and PCBP-2 have paralogues (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. The protein encoded by this gene appears to be multifunctional. It along with PCBP-2 and hnRNPK corresponds to the major cellular poly(rC)-binding protein. It contains three K-homologous (KH) domains which may be involved in RNA binding. This encoded protein together with PCBP-2 also functions as translational coactivators of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES and promote poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human Papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q13157;Q14975", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0045296 cadherin binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0014069 postsynaptic density", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0039694 viral RNA genome replication", "synthesized_glycan_count": 0, "hit_score": 29.6, "record_id": "Q15365-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3MJ16-3", "uniprot_id": [ { "id": "PA24E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3MJ16", "type": "external" } ], "mass": 99190.0, "length": 868, "protein_name": "Cytosolic phospholipase A2 epsilon", "gene_name": "PLA2G4E", "organism": "Human", "refseq_name": "cytosolic phospholipase A2 epsilon isoform 1", "refseq_ac": [ { "id": "NP_001193599", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193599", "type": "external" } ], "gene_names_uniprotkb": "PLA2G4E", "gene_names_refseq": "PLA2G4E", "protein_names_uniprotkb": "Cytosolic phospholipase A2 epsilon; 3.1.1.4; Calcium-dependent N-acyltransferase; Phospholipase A2 group IVE; cPLA2-epsilon", "protein_names_refseq": "cPLA2-epsilon; calcium-dependent N-acyltransferase; cytosolic phospholipase A2 epsilon isoform 1; cytosolic phospholipase A2 epsilon", "tax_id": 9606, "disease": "", "pathway": " (hsa:123745); (R-HSA-1482788); (R-HSA-1482801); (R-HSA-1482839); (R-HSA-1482922); (R-HSA-1483115)", "pathway_count": 6, "publication_count": 68, "publication_id_list": "10085124;10092508;10092647;10196188;10336645;10358058;10455175;10681567;11031251;11112443;11790796;11830583;12150957;12161451;12359733;12522102;14709560;15695510;15863501;15944408;1618844;16243729;16617059;16704971;16818490;16864775;17101204;17182612;18094042;18195019;18287005;18458083;18614531;18772128;18781350;19019078;1904318;19351971;19501189;19554302;20705608;21220512;21515882;22605381;22825852;22906437;23934110;24413173;26206935;26463208;26503625;28228285;2925608;2925633;29391400;29447909;30517655;31473348;31844290;32380223;35051231;7060561;8083230;8300559;9188469;9417066;9525960;9705332", "class_list": "", "function": "Calcium-dependent N-acyltransferase involved in the biosynthesis of N-acyl ethanolamines (NAEs) in the brain (PubMed:29447909). Transfers the sn-1 fatty acyl chain of phosphatidylcholine (fatty acyl donor) to the amine group of phosphatidylethanolamine (fatty acyl acceptor) to generate N-acyl phosphatidylethanolamine (NAPE). Similarly can use plasmenylethanolamine as a fatty acyl acceptor to form N-acyl plasmenylethanolamine (N-Acyl-PlsEt). Both NAPE and N-Acyl-PlsEt can serve as precursors of bioactive NAEs like N-arachidonoyl phosphatidylethanolamine also called anandamide (PubMed:29447909, PubMed:30517655). Has weak phospholipase A2 and lysophospholipase activities (By similarity). Regulates intracellular membrane trafficking that requires modulation of membrane curvature as it occurs by enrichment in lysophospholipids. Promotes tubule formation involved in clathrin-independent endocytotic trafficking and cargo recycling (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Cytoplasmic PLA2 epsilonepsilon is a new important regulator of trafficking processes within the clathrin-independent endocytic and recycling route., [RefSeq, PubMed]; Cytosolic phospholipase A2 epsilon (cPLA2-epsilon) Ca2+-dependently produces N-acyl-phosphatidylethanolamine., [RefSeq, PubMed]; PLA2G4E may be be a risk gene for panic disorder. Publication Status: Online-Only, [RefSeq, PubMed]; PLA2G4E, a candidate gene for resilience in Alzheimer s disease and a new target for dementia treatment., [RefSeq, PubMed]; The role of intracellular anionic phospholipids in the production of N-acyl-phosphatidylethanolamines by cytosolic phospholipase A2varepsilon., [RefSeq, PubMed]; This gene encodes a member of the cytosolic phospholipase A2 group IV family. Members of this family are involved in regulation of membrane tubule-mediated transport. The enzyme encoded by this member of the family plays a role in trafficking through the clathrin-independent endocytic pathway. The enzyme regulates the recycling process via formation of tubules that transport internalized clathrin-independent cargo proteins back to the cell surface. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7WPN2;Q6ZSC0", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "2.3.1.43", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.43", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.4.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.-", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.1", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0046475 glycerophospholipid catabolic process;GO:2001137 positive regulation of endocytic recycling;GO:0070292 N-acylphosphatidylethanolamine metabolic process;GO:0036149 phosphatidylinositol acyl-chain remodeling", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q3MJ16-3", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5XG87-1", "uniprot_id": [ { "id": "PAPD7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5XG87", "type": "external" } ], "mass": 84650.0, "length": 792, "protein_name": "Terminal nucleotidyltransferase 4A", "gene_name": "TENT4A", "organism": "Human", "refseq_name": "terminal nucleotidyltransferase 4A isoform 1", "refseq_ac": [ { "id": "NP_008930", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008930", "type": "external" } ], "gene_names_uniprotkb": "TENT4A; PAPD7; POLS; TRF4", "gene_names_refseq": "LAK-1; LAK1; PAPD7; POLK; POLS; TENT4A; TRF4-1; TRF41; TRF4; TUTASE5", "protein_names_uniprotkb": "Terminal nucleotidyltransferase 4A; 2.7.7.-; 2.7.7.19; DNA polymerase sigma; LAK-1; Non-canonical poly(A) RNA polymerase PAPD7; PAP-associated domain-containing protein 7; TRAMP-like complex polyadenylate polymerase; TRF4-1; TUTase 5; Terminal guanylyltransferase; Terminal uridylyltransferase 5; Topoisomerase-related function protein 4-1", "protein_names_refseq": "DNA polymerase kappa; DNA polymerase sigma; PAP-associated domain-containing protein 7; TRAMP-like complex polyadenylate polymerase; non-canonical poly(A) RNA polymerase PAPD7; poly(A) RNA polymerase D7, non-canonical; polymerase (DNA directed) sigma; terminal guanylyltransferase; terminal nucleotidyltransferase 4A isoform 1; terminal uridylyltransferase 5; topoisomerase-related function protein 4-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:11044); (R-HSA-6802952); (R-HSA-9930044)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10066793;10926539;11237011;11459963;15630448;17174896;17412707;18172165;18330920;18974108;20526349;21424530;21705430;21855801;22745804;22817747;23376078;23481700;23583981;24135138;24345920;25204415;25418920;25578728;25907612;26375851;27434818;27600516;27871484;28657654;28832583;29242379;29298432;29786170;29906447;30026317;30315122;30429286;31950173;32451488;32559291;33767452;33913806;34203408;35254053;35867748;37875486;37938771;39531497;40307207", "class_list": "", "function": "Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TENT4A Non-Canonical Poly(A) Polymerase Regulates DNA-Damage Tolerance via Multiple Pathways That Are Mutated in Endometrial Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Terminal nucleotidyltransferase that catalyzes preferentially the transfer of ATP and GTP on RNA 3' poly(A) tail creating a heterogeneous 3' poly(A) tail leading to mRNAs stabilization by protecting mRNAs from active deadenylation (PubMed:23376078, PubMed:30026317). Also functions as a catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post-transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Has no terminal uridylyltransferase activity, and does not play a role in replication-dependent histone mRNA degradation via uridylation (PubMed:23376078)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The ZCCHC14/TENT4 complex is required for hepatitis A virus RNA synthesis., [RefSeq, PubMed]; The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010]., [RefSeq]; Viral hijacking of the TENT4-ZCCHC14 complex protects viral RNAs via mixed tailing., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0A0X1KG68;A8K1E2;M1JCE6;O43289;Q17RZ1;Q9Y6C1", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.107", "type": "external" }, { "id": "2.7.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.94", "type": "external" }, { "id": "2.7.1.138", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.138", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "3.1.31.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.31.1", "type": "external" }, { "id": "2.7.7.52", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.52", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0043221 SMC family protein binding;GO:0070566 adenylyltransferase activity;GO:1990817 poly(A) RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0031499 TRAMP complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0006302 double-strand break repair;GO:0007076 mitotic chromosome condensation;GO:0009410 response to xenobiotic stimulus;GO:0007062 sister chromatid cohesion", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q5XG87-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6A1A2-1", "uniprot_id": [ { "id": "PDPK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6A1A2", "type": "external" } ], "mass": 44765.0, "length": 396, "protein_name": "Putative 3-phosphoinositide-dependent protein kinase 2", "gene_name": "PDPK2P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PDPK2P; PDPK2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative 3-phosphoinositide-dependent protein kinase 2; 2.7.11.1; 3-phosphoinositide-dependent protein kinase 2 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596)", "pathway": "", "pathway_count": 0, "publication_count": 14, "publication_id_list": "23301498;27543614;28218747;28832583;28834231;29242379;29351928;29508533;29557506;29632711;29786170;30315122;30524438;32502341", "class_list": "", "function": "Phosphorylates and activates not only PKB/AKT, but also PKA, PKC-zeta, RPS6KA1 and RPS6KB1. May play a general role in signaling processes and in development (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0008286 insulin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q6A1A2-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEN9-1", "uniprot_id": [ { "id": "PDZD8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEN9", "type": "external" } ], "mass": 128563.0, "length": 1154, "protein_name": "PDZ domain-containing protein 8", "gene_name": "PDZD8", "organism": "Human", "refseq_name": "PDZ domain-containing protein 8", "refseq_ac": [ { "id": "NP_776152", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776152", "type": "external" } ], "gene_names_uniprotkb": "PDZD8; PDZK8", "gene_names_refseq": "IDDADF; LYVAC; PDZD8; PDZK8", "protein_names_uniprotkb": "PDZ domain-containing protein 8; LYVAC; Lysosomal vacuolator; Sarcoma antigen NY-SAR-84/NY-SAR-104", "protein_names_refseq": "PDZ domain-containing protein 8; lysosomal vacuolator; sarcoma antigen NY-SAR-84/NY-SAR-104", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); intellectual developmental disorder with autism and dysmorphic facies (MONDO:MONDO:0859281)", "pathway": " (hsa:118987)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "10.1101/2023.09.13.557529;12601173;17081983;18452278;18669648;19651622;19664994;19690332;20068231;20573829;21549406;21834987;23186163;23481700;24554657;24714562;24715725;25418920;25771112;26024233;26728094;26992070;27920218;28218747;28228285;28832583;28834231;29097544;29242379;29437277;29508533;29557506;29632046;30379171;30429286;30779550;30833945;31530632;31636202;31818884;31844290;31848261;32157095;32161166;32350084;32686675;32897882;32917905;32938616;33298915;33633747;33912179;33912962;33968037;34171305;34552186;35051231;35227461;35580925;36010968;36241641;36284347;40016860;40246839;40839735;41512824", "class_list": "", "function": "A mutant of PDZD8 lacking the coiled-coil domain in its Gag-interacting region failed to bind Gag and promote HIV-1 infection., [RefSeq, PubMed]; Lipid transfer and molecular tethering protein, which plays a key role in the formation of membrane contact sites between the endoplasmic reticulum and other organelles, such as late endosomes/lysosomes and mitochondria (PubMed:29097544, PubMed:31636202, PubMed:31818884, PubMed:32686675, PubMed:33912962, PubMed:40246839, PubMed:40839735, PubMed:41512824). Faciliates the exchange of lipids at membrane contact sites between the endoplasmic reticulum and organelles by mediating the transport of lipids, such as ceramide, cholesterol and phosphatidylserine (PubMed:33912962, PubMed:40839735). Also acts as a molecular glue by undergoing liquid-liquid phase separation, forming condensates that mediate stable adhesion between endoplasmic reticulum and surrounding organelles, connecting two distinct membrane-bound vesicles coupled together (PubMed:41512824). Connects the endoplasmic reticulum to late endosomes/lysosomes, facilitating the exchange of lipids, which is crucial for membrane remodeling and processes, such as neurite outgrowth (PubMed:31636202, PubMed:32686675, PubMed:33912962). PDZD8-dependent endoplasmic reticulum-mitochondria membrane tethering is essential for endoplasmic reticulum-mitochondria Ca(2+) transfer (PubMed:29097544, PubMed:31818884, PubMed:40246839). In neurons, involved in the regulation of dendritic Ca(2+) dynamics by regulating mitochondrial Ca(2+) uptake in neurons (PubMed:29097544). Mediates lysosomal vacuolation, a process during which lysosomes abnormally enlarge into large membrane-bound sacs in response to stress such as osmotic stress: acts by mediating bulk lipid transfer from the endoplasmic reticulum to lysosomes, leading to vacuole formation (PubMed:40839735). Plays an indirect role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). May indirectly inhibit herpes simplex virus 1 infection at an early stage (PubMed:21549406)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies., [RefSeq, PubMed]; PDZD8 is a novel moesin-interacting protein that suppresses infection by herpes simplex virus type 1., [RefSeq, PubMed]; PDZD8 tethers the endoplasmic reticulum to late endosomes and lysosomes via an interaction with Rab7., [RefSeq, PubMed]; Protrudin and PDZD8 contribute to neuronal integrity by promoting lipid extraction required for endosome maturation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q86WE0;Q86WE5;Q9UFF1", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0044233 mitochondria-associated endoplasmic reticulum membrane contact site", "go_biological_process": "GO:0006869 lipid transport;GO:0051560 mitochondrial calcium ion homeostasis;GO:1990456 mitochondrion-endoplasmic reticulum membrane tethering", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q8NEN9-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TE04-1", "uniprot_id": [ { "id": "PANK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TE04", "type": "external" } ], "mass": 64339.0, "length": 598, "protein_name": "Pantothenate kinase 1", "gene_name": "PANK1", "organism": "Human", "refseq_name": "pantothenate kinase 1 isoform gamma", "refseq_ac": [ { "id": "NP_612189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612189", "type": "external" } ], "gene_names_uniprotkb": "PANK1; PANK", "gene_names_refseq": "PANK1; PANK", "protein_names_uniprotkb": "Pantothenate kinase 1; 2.7.1.33; Pantothenic acid kinase 1; hPanK1; hPanK", "protein_names_refseq": "pantothenate kinase 1 isoform gamma; pantothenic acid kinase 1", "tax_id": 9606, "disease": "pantothenate kinase-associated neurodegeneration (Disease Ontology:DOID:3981)", "pathway": " (hsa:53354); (R-HSA-196783)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11479594;11809413;11923312;11994049;12095677;12554685;12906824;14514684;14523052;15105273;15581364;15893380;16040613;16272150;17242360;17631502;19690332;23152917;23343762;28514659;29331515;30833945;31154438;31844290;31848261;32157095;32357974;32387766;32488085;33592498;33912179;33968037;33981976;34087483;34171305;34185709;34405274;35051231;35280671;36010968;36284347;36983025;37138430;37938771", "class_list": "", "function": "Catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis., [UniProtKB, PubMed, PubMed]; Expression and Prognostic Role of PANK1 in Glioma., [RefSeq, PubMed]; Molecular cloning and characterization of a new human PanK gene, [RefSeq, PubMed]; P53 plays an important role in regulating energy homeostasis through transcriptional control of PANK1., [RefSeq, PubMed]; PPARalpha transcription factor as a major factor governing hepatic CoA levels by specific modulation of PANK1alpha gene expression, [RefSeq, PubMed]; Pantothenate Kinase 1 Inhibits the Progression of Hepatocellular Carcinoma by Negatively Regulating Wnt/beta-catenin Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NIP0;Q7RTX6;Q7Z495;Q8TBQ8", "ec_number_list": [ { "id": "2.7.1.33", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.33", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0004594 pantothenate kinase activity;GO:1905502 acetyl-CoA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0055037 recycling endosome", "go_biological_process": "GO:0015937 coenzyme A biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8TE04-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JQ0-1", "uniprot_id": [ { "id": "PCD16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JQ0", "type": "external" } ], "mass": 346181.0, "length": 3298, "protein_name": "Protocadherin-16", "gene_name": "DCHS1", "organism": "Human", "refseq_name": "protocadherin-16 precursor", "refseq_ac": [ { "id": "NP_003728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003728", "type": "external" } ], "gene_names_uniprotkb": "DCHS1; CDH19; CDH25; FIB1; KIAA1773; PCDH16", "gene_names_refseq": "CDH25; CDHR6; DCHS1; FIB1; MMVP2; MVP2; PCDH16; VMLDS1", "protein_names_uniprotkb": "Protocadherin-16; Cadherin-19; Cadherin-25; Fibroblast cadherin-1; Protein dachsous homolog 1", "protein_names_refseq": "cadherin-19; cadherin-25; cadherin-related family member 6; fibroblast cadherin 1; fibroblast cadherin FIB1; myxomatous mitral valve prolapse 2; protein dachsous homolog 1; protocadherin-16 precursor; protocadherin-16", "tax_id": 9606, "disease": "Van Maldergem syndrome (Disease Ontology:DOID:0060238); Van Maldergem syndrome 1 (Disease Ontology:DOID:0080585); mitral valve prolapse (Disease Ontology:DOID:988); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:8642)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10.1101/2023.09.13.557529;11597768;12707861;16959974;23481700;24056717;24190977;25355906;25418920;25576301;26258302;26992070;28832583;29242379;29557506;30315122;30418433;30429286;31154438;31217245;31358536;31844290;31848261;32157095;32265295;32295462;32350084;32387766;32488085;32502341;32938616;32983136;33298915;33392160;33592498;33912179;33968037;34509645;35051231;35251023;35580925;36010968;36053189;36284347;36797229;37074911;37399314;9199196", "class_list": "", "function": "Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation. In the heart, has a critical role for proper morphogenesis of the mitral valve, acting in the regulation of cell migration involved in valve formation (PubMed:26258302)., [UniProtKB, PubMed]; DCHS1 DNA copy number loss associated with pediatric urinary tract infection risk., [RefSeq, PubMed]; De novo DCHS1 splicing mutation in a patient with mitral valve prolapse., [RefSeq, PubMed]; Fat4 and Dchs1 mutants mimic the craniofacial phenotype of the human Van Maldergem syndrome and Dchs1-Fat4 signalling is essential for osteoblast differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; Findings show that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia, [RefSeq, PubMed]; MMVP2 was found on chromosome 11., [RefSeq, PubMed]; Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction. Publication Status: Online-Only, [RefSeq, PubMed]; Structure of the planar cell polarity cadherins Fat4 and Dachsous1. Publication Status: Online-Only, [RefSeq, PubMed]; These findings suggest that Fat and Dachsous self-bend due to the loss of Ca(2+)-binding amino acids from specific EC-EC linkers, and can therefore adapt to confined spaces., [RefSeq, PubMed]; This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 11, "predicted_n_glycosites": 9, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 108, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 16, "disease_count": 4, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "O15098", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0016020 membrane;GO:0045177 apical part of cell;GO:0016342 catenin complex", "go_biological_process": "GO:0003192 mitral valve formation;GO:0016477 cell migration;GO:0035329 hippo signaling;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q96JQ0-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RD7-1", "uniprot_id": [ { "id": "PANX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RD7", "type": "external" } ], "mass": 48050.0, "length": 426, "protein_name": "Pannexin-1", "gene_name": "PANX1", "organism": "Human", "refseq_name": "pannexin-1", "refseq_ac": [ { "id": "NP_056183", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056183", "type": "external" } ], "gene_names_uniprotkb": "PANX1; MRS1; PRO6028", "gene_names_refseq": "MRS1; OOMD7; OZEMA7; PANX1; PX1; UNQ2529", "protein_names_uniprotkb": "Pannexin-1; PANX1", "protein_names_refseq": "innexin; pannexin-1", "tax_id": 9606, "disease": "autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); depressive disorder (Disease Ontology:DOID:1596); oocyte maturation defect 7 (MONDO:MONDO:0032810)", "pathway": " (hsa:24145); (R-HSA-112303); (R-HSA-844456); (R-HSA-9856530); (R-HSA-9856532)", "pathway_count": 5, "publication_count": 115, "publication_id_list": "10.1101/2023.09.13.557529;10376603;10462698;10639123;10649434;10764742;11157473;11498534;11786556;11853546;11967258;11968001;12176338;12191486;12615073;12724311;12881038;12975309;14595024;14597722;14761955;15028292;15304325;15718470;16303743;16682648;16780920;16908669;17036048;17349957;17435760;17483156;17603038;17703304;17715132;18710921;19020623;19570822;19723632;20023662;20303873;20829356;20930146;20944749;2182768;23479567;23695678;24190977;24454290;24714562;26154972;26549800;26992070;27129271;27566546;27797339;28228285;28832583;28834231;28904123;29242379;29508533;29557506;29712950;29769354;29786170;30315122;30429286;30814251;30918116;31205027;31530632;31844290;31848261;32157095;32231289;32238926;32284561;32296767;32350084;32357974;32387766;32494015;32502341;32897882;32938616;32983136;33405952;33592498;33717175;33912179;33936100;33947837;33968037;34087483;34171305;34357683;34499618;34509645;35051231;35289036;35561310;35580925;36010968;38861601;38880128;38897345;38937853;39232764;450099;7876172;8700127;9023774;9038151;9620797", "class_list": "", "function": "A novel heterozygous missense variant of PANX1 causes human oocyte death and female infertility. Publication Status: Online-Only, [RefSeq, PubMed]; Ca[2+] permeation through C-terminal cleaved, but not full-length human Pannexin1 hemichannels, mediates cell death., [RefSeq, PubMed]; Data show that erythrocytes express the gap junction protein pannexin 1., [RefSeq, PubMed]; During apoptosis, the C terminal tail is cleaved by caspases, which opens the main pore acting as a large-pore ATP efflux channel with a broad distribution, which allows the regulated release of molecules and ions smaller than 1 kDa, such as nucleotides ATP and UTP, and selective plasma membrane permeability to attract phagocytes that engulf the dying cells., [UniProtKB, PubMed, PubMed, PubMed]; Hyperactivation of SREBP induces pannexin-1-dependent lytic cell death., [RefSeq, PubMed]; Ion channel involved in a variety of physiological functions such as blood pressure regulation, apoptotic cell clearance and oogenesis (PubMed:15304325, PubMed:16908669, PubMed:20829356, PubMed:20944749, PubMed:30918116). Forms anion-selective channels with relatively low conductance and an order of permeabilities: nitrate>iodide>chlroride>>aspartate=glutamate=gluconate (By similarity). Can release ATP upon activation through phosphorylation or cleavage at C-terminus (PubMed:32238926). May play a role as a Ca(2+)-leak channel to regulate ER Ca(2+) homeostasis (PubMed:16908669)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; PANX1-mediated ATP release confers FAM3A's suppression effects on hepatic gluconeogenesis and lipogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Pannexin-1 expression in tumor cells correlates with colon cancer progression and survival., [RefSeq, PubMed]; The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O75968;Q543A0;Q6UW26;Q96AM9;Q96L77;Q96RS5", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0002020 protease binding;GO:0005102 signaling receptor binding;GO:0005262 calcium channel activity;GO:0042802 identical protein binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0032059 bleb", "go_biological_process": "GO:0098656 monoatomic anion transmembrane transport;GO:0007267 cell-cell signaling;GO:0006816 calcium ion transport;GO:0006812 monoatomic cation transport;GO:0032731 positive regulation of interleukin-1 beta production", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q96RD7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRP1-1", "uniprot_id": [ { "id": "PDD2L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRP1", "type": "external" } ], "mass": 39417.0, "length": 358, "protein_name": "uS5 assembly chaperone PDCD2L", "gene_name": "PDCD2L", "organism": "Human", "refseq_name": "uS5 assembly chaperone PDCD2L isoform 1", "refseq_ac": [ { "id": "NP_115722", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115722", "type": "external" } ], "gene_names_uniprotkb": "PDCD2L", "gene_names_refseq": "PDCD2L", "protein_names_uniprotkb": "uS5 assembly chaperone PDCD2L; Programmed cell death protein 2-like", "protein_names_refseq": "programmed cell death protein 2-like; uS5 assembly chaperone PDCD2L isoform 1; uS5 assembly chaperone PDCD2L", "tax_id": 9606, "disease": "", "pathway": " (hsa:84306)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;16311922;17393540;18486760;20068231;23186163;23301498;23481700;25505266;26375851;26758079;26992070;27697862;28218747;28228285;28510447;28832583;29242379;29437277;29493099;29508533;29786170;31217245;31844290;32387766;32502341;32897882;33392160;33717175;33912179;33968037;34019948;34171305;35051231;35561310", "class_list": "", "function": "Findings uncover the existence of an extra-ribosomal complex consisting of PDCD2L, RPS2, and PRMT3 and support a role for PDCD2L in the late maturation of 40S ribosomal subunits. Publication Status: Online-Only, [RefSeq, PubMed]; MGC13096 over-expression restrained proliferation of HEK293T cells. DNA/flow cytometry analysis showed that the over-expression of MGC13096 severely delays cell cycle progression at S phase., [RefSeq, PubMed]; May function as a chaperone for ribosomal protein uS5; its function appears redundant to PDCD2., [UniProtKB, PubMed]; Overexpression of PDCD2-like gene attenutates TNF-alpha release in Daudi cells, [RefSeq, PubMed]; To study the role of PDCD2_C domain in apoptosis, the cDNAs of two isoforms of PDCD2 and MGC13096 were cloned. PDCD2 (NM_002598) was over expressed when endothelial cells treated with leukotriene D4 or natural killer cells were activated by IL-2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005730 nucleolus;GO:0005829 cytosol;GO:0016020 membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0006915 apoptotic process;GO:0042254 ribosome biogenesis", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9BRP1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXP8-1", "uniprot_id": [ { "id": "PAPP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXP8", "type": "external" } ], "mass": 198539.0, "length": 1791, "protein_name": "Pappalysin-2", "gene_name": "PAPPA2", "organism": "Human", "refseq_name": "pappalysin-2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_064714", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064714", "type": "external" } ], "gene_names_uniprotkb": "PAPPA2; PLAC3", "gene_names_refseq": "PAPP-A2; PAPP-E; PAPPA2; PAPPE; PLAC3; SSDA", "protein_names_uniprotkb": "Pappalysin-2; 3.4.24.-; PAPP-A2; PAPP-E; Pregnancy-associated plasma protein A2; Pregnancy-associated plasma protein E1", "protein_names_refseq": "pappalysin-2 isoform 1 precursor; placenta-specific 3; pregnancy-associated plasma preproprotein-A2; pregnancy-associated plasma protein E1", "tax_id": 9606, "disease": "Short stature, Dauber-Argente type (MONDO:MONDO:0859182)", "pathway": " (hsa:60676); (R-HSA-381426)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11018262;11158056;11250653;11264294;11316783;11522292;11597188;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;15126567;15308688;15469690;15485880;15525596;15642270;17047378;17249697;17312271;17985932;18991276;2476804;2479552;26091039;26902202;29557506;31217245;33783375;33981976;34116346;34203285;34272725;34476481;35051231;35251023;35494241;36241641;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Associations of plasma PAPP-A2 and genetic variations with salt sensitivity, blood pressure changes and hypertension incidence in Chinese adults., [RefSeq, PubMed]; Dynamic Changes in Serum IGF-I and Growth During Infancy: Associations to Body Fat, Target Height, and PAPPA2 Genotype., [RefSeq, PubMed]; Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip. Publication Status: Online-Only, [RefSeq, PubMed]; Metalloproteinase which specifically cleaves insulin-like growth factor binding protein (IGFBP)-5 at the '163-Ser-|-Lys-164' bond. Shows limited proteolysis toward IGFBP-3., [UniProtKB, PubMed, PubMed]; Serum Inhibin-A and PAPP-A2 in the prediction of pre-eclampsia during the first and second trimesters in high-risk women., [RefSeq, PubMed]; Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi family., [RefSeq, PubMed]; This gene encodes a member of the pappalysin family of metzincin metalloproteinases. The encoded protein cleaves insulin-like growth factor-binding protein 5 and is thought to be a local regulator of insulin-like growth factor (IGF) bioavailability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 15, "predicted_n_glycosites": 14, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 117, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "A9Z1Y8;Q96PH7;Q96PH8;Q9H4C9", "ec_number_list": [ { "id": "3.4.24.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.79", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007166 cell surface receptor signaling pathway;GO:0001558 regulation of cell growth;GO:0009651 response to salt stress", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9BXP8-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5H8-1", "uniprot_id": [ { "id": "PCDA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5H8", "type": "external" } ], "mass": 102428.0, "length": 950, "protein_name": "Protocadherin alpha-3", "gene_name": "PCDHA3", "organism": "Human", "refseq_name": "protocadherin alpha-3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061729", "type": "external" } ], "gene_names_uniprotkb": "PCDHA3", "gene_names_refseq": "PCDH-ALPHA3; PCDHA3", "protein_names_uniprotkb": "Protocadherin alpha-3; PCDH-alpha-3", "protein_names_refseq": "KIAA0345-like 11; PCDH-alpha-3; protocadherin alpha-3 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56145)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10380929;19054571;23192925;28411811;29557506;32387766;33756103;34086268", "class_list": "", "function": "Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; Protocadherin alpha 3 inhibits lung squamous cell carcinoma metastasis and epithelial-mesenchymal transition., [RefSeq, PubMed]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]., [RefSeq]; This study suggested that PCDHA3 as a candidate gene for restless legs syndrome., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 73, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O75286", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9Y5H8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZU1-1", "uniprot_id": [ { "id": "MCLN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZU1", "type": "external" } ], "mass": 65022.0, "length": 580, "protein_name": "Mucolipin-1", "gene_name": "MCOLN1", "organism": "Human", "refseq_name": "mucolipin-1", "refseq_ac": [ { "id": "NP_065394", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065394", "type": "external" } ], "gene_names_uniprotkb": "MCOLN1; ML4; MSTP080; TRPML1", "gene_names_refseq": "LECD; MCOLN1; MG-2; ML1; ML4; MLIV; MST080; MSTP080; TRP-ML1; TRPM-L1; TRPML1", "protein_names_uniprotkb": "Mucolipin-1; MG-2; ML1; Mucolipidin; TRPML1; Transient receptor potential channel mucolipin 1", "protein_names_refseq": "mucolipidin; mucolipidosis type IV protein; mucolipin-1; transient receptor potential cation channel mucolipin subfamily member 1; transient receptor potential channel mucolipin 1; transient receptor potential mucolipin 1", "tax_id": 9606, "disease": "Lisch epithelial corneal dystrophy (Disease Ontology:DOID:0060450); mucolipidosis type IV (Disease Ontology:DOID:0080490); glycoproteinosis (Disease Ontology:DOID:3343)", "pathway": " (hsa:57192); (R-HSA-3295583); (R-HSA-917977)", "pathway_count": 3, "publication_count": 97, "publication_id_list": "10.1101/2023.09.13.557529;10409623;10802645;10973263;11013137;11030752;11050376;11226139;11237011;11243859;11301059;11317355;11800564;12015988;12182165;12459486;12531241;1422598;14634208;14749347;15178326;15336987;15345747;15523648;16227996;16257972;16497227;16564538;16609065;16793765;16959974;16978393;17662945;17729390;17897319;17988215;18794901;19159218;19864416;19885840;20025796;20112406;20159435;20716668;21224396;21256127;22733759;24190977;25130899;25389312;25418920;25645385;25720963;25733853;25765567;25855297;26195823;26205815;26992070;27357649;27600516;27623384;27787197;28112729;28218747;28834231;28904123;29019983;29242379;29314611;29437277;29557506;30337524;30573663;31112550;31154438;31222486;32157095;32350084;32938616;32983136;33043033;33592498;33912179;33968037;34087483;34357683;35051231;35580925;37074911;37972748;39080379;39120584;39201515;6141558;6309857;9465039", "class_list": "", "function": "Activation of the TRPML1 Ion Channel Induces Proton Secretion in the Human Gastric Parietal Cell Line HGT-1. Publication Status: Online-Only, [RefSeq, PubMed]; Characterization of the conductance properties of mucolipin-1 in the presence of cations., [RefSeq, PubMed]; INPP4B promotes PDAC aggressiveness via PIKfyve and TRPML-1-mediated lysosomal exocytosis., [RefSeq, PubMed]; May contribute to cellular lipase activity within the late endosomal pathway or at the cell surface which may be involved in processes of membrane reshaping and vesiculation, especially the growth of tubular structures. However, it is not known, whether it conveys the enzymatic activity directly, or merely facilitates the activity of an associated phospholipase., [UniProtKB, PubMed]; Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis (PubMed:11013137, PubMed:12459486, PubMed:14749347, PubMed:15336987, PubMed:18794901, PubMed:25720963, PubMed:27623384, PubMed:29019983). Acts as a Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:25720963, PubMed:29019983). Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy (PubMed:11013137, PubMed:12459486, PubMed:14749347, PubMed:15336987, PubMed:25720963, PubMed:27623384, PubMed:29019983). Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion (By similarity). Involved in lactosylceramide trafficking indicative for a role in the regulation of late endocytic membrane fusion/fission events (PubMed:16978393). By mediating lysosomal Ca(2+) release is involved in regulation of mTORC1 signaling and in mTOR/TFEB-dependent lysosomal adaptation to environmental cues such as nutrient levels (PubMed:25720963, PubMed:25733853, PubMed:27787197). Seems to act as lysosomal active oxygen species (ROS) sensor involved in ROS-induced TFEB activation and autophagy (PubMed:27357649). Also functions as a Fe(2+) permeable channel in late endosomes and lysosomes (PubMed:18794901). Also permeable to Mg(2+), Na(+), K(+) and Cs(+) (By similarity). Proposed to play a role in zinc homeostasis probably implicating its association with TMEM163 (PubMed:25130899) In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 23, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D6W647;Q7Z4F7;Q9H292;Q9H4B3;Q9H4B5", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0072345 NAADP-sensitive calcium-release channel activity;GO:0005262 calcium channel activity;GO:0042802 identical protein binding;GO:0008289 lipid binding;GO:0005267 potassium channel activity", "go_cellular_component": "GO:0097708 intracellular vesicle;GO:0001891 phagocytic cup;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0090382 phagosome maturation;GO:0034755 iron ion transmembrane transport;GO:0051289 protein homotetramerization;GO:0071277 cellular response to calcium ion;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9GZU1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60476-1", "uniprot_id": [ { "id": "MA1A2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60476", "type": "external" } ], "mass": 73004.0, "length": 641, "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "gene_name": "MAN1A2", "organism": "Human", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB", "refseq_ac": [ { "id": "NP_006690", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006690", "type": "external" } ], "gene_names_uniprotkb": "MAN1A2; MAN1B", "gene_names_refseq": "MAN1A2; MAN1B", "protein_names_uniprotkb": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB; 3.2.1.113; Alpha-1,2-mannosidase IB; Mannosidase alpha class 1A member 2; Processing alpha-1,2-mannosidase IB", "protein_names_refseq": "alpha-1,2-mannosidase IB; alpha1,2-mannosidase; mannosyl-oligosaccharide 1,2-alpha-mannosidase IB; processing alpha-1,2-mannosidase IB", "tax_id": 9606, "disease": "", "pathway": " (hsa:10905); (R-HSA-6811438); (R-HSA-964827)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "10189370;10652308;10652516;10915796;11237011;11718716;11748249;12011112;12383348;12429822;15504911;15718469;15728195;15758030;17274799;18086915;18256213;18451304;18987618;19164740;19536132;19715559;20163571;20874812;21807881;22013193;22188167;22223895;23091056;23239882;23378023;23462996;23839779;23936529;23940353;24119662;25418920;25645385;25708460;25892735;28218747;28228285;28467828;28832583;28834231;28904123;29242379;29314611;29317506;29437277;29769354;30315122;30524438;30573663;31844290;32157095;32350084;32357974;32387766;32488085;32938616;33537174;33592498;33968037;34357683;35051231;35154160;35251023;36010968;36215666;36482494;38665916;38680890;40307207;8636227;8945478;9244307;9476900;9510256;9592125;9653114;9707577;9915833", "class_list": "glycogene;glycosylhydrolase", "function": "Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]., [RefSeq]; Circular RNA circMAN1A2 promotes ovarian cancer progression through the microRNA-135a-3p/IL1RAP/TAK1 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Hsa_circ_0000119 promoted ovarian cancer development via enhancing the methylation of CDH13 by sponging miR-142-5p., [RefSeq, PubMed]; Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2)., [UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 588, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9H510", "ec_number_list": [ { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.113", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.113", "type": "external" }, { "id": "3.2.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.114", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" } ], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0036503 ERAD pathway;GO:0006491 N-glycan processing;GO:1904381 Golgi apparatus N-glycan mannose trimming", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "O60476-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYB8-1", "uniprot_id": [ { "id": "SUV3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYB8", "type": "external" } ], "mass": 87991.0, "length": 786, "protein_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial", "gene_name": "SUPV3L1", "organism": "Human", "refseq_name": "ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001288612", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288612", "type": "external" } ], "gene_names_uniprotkb": "SUPV3L1; SUV3", "gene_names_refseq": "SUPV3L1; SUV3", "protein_names_uniprotkb": "ATP-dependent RNA helicase SUPV3L1, mitochondrial; 3.6.4.13; SUV3-like protein 1; Suppressor of var1 3-like protein 1", "protein_names_refseq": "ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2; ATP-dependent RNA helicase SUPV3L1, mitochondrial; SUV3-like helicase; SUV3-like protein 1; suppressor of var1, 3-like 1(SUV3)", "tax_id": 9606, "disease": "", "pathway": " (hsa:6832); (R-HSA-9836573)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10453991;11237011;12466530;12694177;14561097;15096047;16176273;17352692;17961633;18063578;18669648;18678873;19509288;19608861;19864255;20068231;20200222;22028470;22210891;22661577;23186163;23221631;23473033;23481700;23741365;25418920;26811146;28832583;28904123;29146908;29288125;29366917;29557506;29967381;30046113;30379171;31154438;31844290;32357974;32365187;32387766;32488085;32938616;33298915;33592498;33691108;33936100;33968037;34171305;34229054;34357683;35023579;35051231;35481630;39267568;39894887", "class_list": "", "function": "Dimeric assembly of human Suv3 helicase promotes its RNA unwinding function in mitochondrial RNA degradosome for RNA decay., [RefSeq, PubMed]; Human SUV3 is an ATP-dependent multiple-substrate helicase; in addition to dsRNA and dsDNA unwinding activity, SUV3-70 and SUV3-83 can unwind heteroduplexes of RNA and DNA., [RefSeq, PubMed]; Localisation of hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA., [RefSeq, PubMed]; Major helicase player in mitochondrial RNA metabolism. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Involved in the degradation of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381). ATPase and ATP-dependent multisubstrate helicase, able to unwind double-stranded (ds) DNA and RNA, and RNA/DNA heteroduplexes in the 5'-to-3' direction. Plays a role in the RNA surveillance system in mitochondria; regulates the stability of mature mRNAs, the removal of aberrantly formed mRNAs and the rapid degradation of non coding processing intermediates. Also implicated in recombination and chromatin maintenance pathways. May protect cells from apoptosis. Associates with mitochondrial DNA., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome., [RefSeq, PubMed]; [SUV3 knockdown inhibits proliferation, migration, and invasion of hepatocellular carcinoma cells and induces PD-L1 expression]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K301;O43630", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.7.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.8", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0042645 mitochondrial nucleoid;GO:0045025 mitochondrial degradosome", "go_biological_process": "GO:0006310 DNA recombination;GO:0030307 positive regulation of cell growth;GO:0043066 negative regulation of apoptotic process;GO:0007005 mitochondrion organization;GO:0000957 mitochondrial RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q8IYB8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFZ5-1", "uniprot_id": [ { "id": "TNIP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFZ5", "type": "external" } ], "mass": 48700.0, "length": 429, "protein_name": "TNFAIP3-interacting protein 2", "gene_name": "TNIP2", "organism": "Human", "refseq_name": "TNFAIP3-interacting protein 2 isoform 3", "refseq_ac": [ { "id": "NP_001278945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278945", "type": "external" } ], "gene_names_uniprotkb": "TNIP2; ABIN2; FLIP1", "gene_names_refseq": "ABIN2; FLIP1; KLIP; TNIP2", "protein_names_uniprotkb": "TNFAIP3-interacting protein 2; A20-binding inhibitor of NF-kappa-B activation 2; ABIN-2; Fetal liver LKB1-interacting protein", "protein_names_refseq": "A20-binding inhibitor of NF-kappaB activation-2; TNFAIP3-interacting protein 2 isoform 3; fetal liver LKB1-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79155); (R-HSA-5684264); (R-HSA-5689896)", "pathway_count": 3, "publication_count": 114, "publication_id_list": "10385526;11158290;11237011;11389905;11390377;11463333;12080044;12482991;12595760;12609966;12667451;12753905;12832462;12933576;14653779;14661020;14673179;15169888;15258597;15334086;15778223;16806191;18212736;18691976;19383985;19464428;19818707;19996094;20553488;21266526;21784860;22124327;22424782;22544926;22988300;23481700;23827681;24275569;24610782;24715725;25418920;25502872;25576301;25645385;25904330;26280536;26348204;26375851;26768311;26811146;26992070;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28467828;28832583;28834231;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30429286;30524438;30617349;30779550;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33936100;33968037;33981976;34087483;34211107;34357683;34405274;34509645;34932366;35051231;35154160;35254053;35580925;36010968;36284347;36503346;37085111;37904691;37938771;9535861;9950430", "class_list": "", "function": "FLIP1 has a role in the regulation of NF-kappaB activity related to the role of LKB1 in tumor suppression, [RefSeq, PubMed]; Inhibits NF-kappa-B activation by blocking the interaction of RIPK1 with its downstream effector NEMO/IKBKG. Forms a ternary complex with NFKB1 and MAP3K8 but appears to function upstream of MAP3K8 in the TLR4 signaling pathway that regulates MAP3K8 activation. Involved in activation of the MEK/ERK signaling pathway during innate immune response; this function seems to be stimulus- and cell type specific. Required for stability of MAP3K8. Involved in regulation of apoptosis in endothelial cells; promotes TEK agonist-stimulated endothelial survival. May act as transcriptional coactivator when translocated to the nucleus. Enhances CHUK-mediated NF-kappa-B activation involving NF-kappa-B p50-p65 and p50-c-Rel complexes., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Long noncoding RNA NAV2-AS5 relieves chondrocyte inflammation by targeting miR-8082/TNIP2 in osteoarthritis., [RefSeq, PubMed]; TNFAIP3 interacting protein 2 relieves lipopolysaccharide (LPS)-induced inflammatory injury in endometritis by inhibiting NF-kappaB activation., [RefSeq, PubMed]; TNIP2 inhibits amyloidogenesis by regulating the 3'UTR of BACE1: An in vitro study., [RefSeq, PubMed]; This gene encodes a protein which acts as an inhibitor of NFkappaB activation. The encoded protein is also involved in MAP/ERK signaling pathway in specific cell types. It may be involved in apoptosis of endothelial cells. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.[provided by RefSeq, May 2014]., [RefSeq]; Transcription repressed by promyelocytic leukemia protein expression, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B1AKS4;B3KTY8;D3DVQ9;Q7L5L2;Q9BQR6;Q9H682", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0070530 K63-linked polyubiquitin modification-dependent protein binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0043032 positive regulation of macrophage activation;GO:0070498 interleukin-1-mediated signaling pathway;GO:0023035 CD40 signaling pathway;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q8NFZ5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43513-1", "uniprot_id": [ { "id": "MED7_HUMAN", "url": "https://www.uniprot.org/uniprot/O43513", "type": "external" } ], "mass": 27245.0, "length": 233, "protein_name": "Mediator of RNA polymerase II transcription subunit 7", "gene_name": "MED7", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 7", "refseq_ac": [ { "id": "NP_001094286", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094286", "type": "external" } ], "gene_names_uniprotkb": "MED7; ARC34; CRSP9", "gene_names_refseq": "ARC34; CRSP33; CRSP9; MED7", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 7; ARC34; Activator-recruited cofactor 34 kDa component; CRSP complex subunit 9; Cofactor required for Sp1 transcriptional activation subunit 9; Mediator complex subunit 7; RNA polymerase transcriptional regulation mediator subunit 7 homolog; Transcriptional coactivator CRSP33; hMED7", "protein_names_refseq": "CRSP complex subunit 9; RNA polymerase transcriptional regulation mediator subunit 7 homolog; activator-recruited cofactor 34 kDa component; cofactor required for Sp1 transcriptional activation subunit 9; cofactor required for Sp1 transcriptional activation, subunit 9 (33kD); cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa; mediator of RNA polymerase II transcription subunit 7; transcriptional coactivator CRSP33", "tax_id": 9606, "disease": "multiple epiphyseal dysplasia 1 (Disease Ontology:DOID:0070303); carpal tunnel syndrome 2 (Disease Ontology:DOID:0070467); pseudoachondroplasia (Disease Ontology:DOID:0080047); multiple epiphyseal dysplasia (Disease Ontology:DOID:12721); osteochondrodysplasia (Disease Ontology:DOID:2256)", "pathway": " (hsa:9443); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 126, "publication_id_list": "10075656;10235266;10235267;10330177;10425206;10558993;10777541;10835357;10882139;11027271;11095972;11237011;11267664;11395415;11607032;11872672;12118000;12177166;12213831;12505311;12582161;12829629;1310260;14519192;14976261;15067378;15130092;15175151;15175163;15273253;15635043;15850785;15896744;15919796;15989967;16380219;16606702;16719718;16972786;17011499;17709345;17761950;17980149;18420935;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19369195;19710929;19934321;20101261;20110263;20410276;2163759;22090124;23239344;24196956;24715725;25114211;25218447;25576301;25645385;25755297;25772364;25854864;26154972;27920218;28228285;28832583;28834231;29242379;29493099;29508533;29557506;29786170;30315122;30429286;31092671;31154438;31844290;31848261;32157095;32502341;32938616;32983136;33141586;33298915;33329381;33691108;33912179;33936100;34932366;35051231;35580925;36102648;36284347;37938771;38073375;7685352;7892212;8183939;8325954;8521497;8521498;8643605;8647822;8706692;8769649;8770873;8970730;9012850;9065481;9171241;9454824;9637681;9653119;9671713;9744270;9748239;9836620;9989412", "class_list": "", "function": "Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors., [UniProtKB, UniProtKB, UniProtKB]; The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of MED7 was associated with progression in hepatocellular carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0061630 ubiquitin protein ligase activity;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0005667 transcription regulator complex;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0016567 protein ubiquitination;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0032968 positive regulation of transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "O43513-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4A8-1", "uniprot_id": [ { "id": "NF2L3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4A8", "type": "external" } ], "mass": 76154.0, "length": 694, "protein_name": "Nuclear factor erythroid 2-related factor 3", "gene_name": "NFE2L3", "organism": "Human", "refseq_name": "nuclear factor erythroid 2-related factor 3", "refseq_ac": [ { "id": "NP_004280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004280", "type": "external" } ], "gene_names_uniprotkb": "NFE2L3; NRF3", "gene_names_refseq": "NFE2L3; NRF3", "protein_names_uniprotkb": "Nuclear factor erythroid 2-related factor 3; NF-E2-related factor 3; NFE2-related factor 3; Nuclear factor, erythroid derived 2, like 3", "protein_names_refseq": "NF-E2-related factor 3; NFE2-related factor 3; nuclear factor erythroid 2-related factor 3; nuclear factor, erythroid 2 like 3; nuclear factor, erythroid derived 2, like 3; nuclear factor-erythroid 2 p45-related factor 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:9603)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;10037736;11237011;15385560;15388789;17976382;23481700;24715725;25418920;25576301;25645385;25802875;26154972;26811146;26929215;26992070;27920218;28063628;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29786170;30315122;30833945;31092671;31154438;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33537174;33592498;33912179;33936100;33968037;34171305;34185709;34211107;34405274;34561969;34932366;35051231;35580925;36010968;36241641;36337840;37071304;37807968;37938771;38514488;39443820", "class_list": "", "function": "Activates erythroid-specific, globin gene expression., [UniProtKB]; Hypomethylation-Mediated Upregulation of NFE2L3 Promotes Malignant Phenotypes of Clear Cell Renal Cell Carcinoma Cells., [RefSeq, PubMed]; Identification roles of NFE2L3 in digestive system cancers. Publication Status: Online-Only, [RefSeq, PubMed]; NFE2L3 as a Potential Functional Gene Regulating Immune Microenvironment in Human Kidney Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; NRF3 is highly expressed in primary placental cytotrophoblasts, [RefSeq, PubMed]; NRF3 suppresses squamous carcinogenesis, involving the unfolded protein response regulator HSPA5., [RefSeq, PubMed]; NRF3 suppresses the malignant progression of TNBC by promoting M1 polarization of macrophages via ROS/HMGB1 axis., [RefSeq, PubMed]; Nrf3 is a negative regulator of ARE-mediated gene expression of NQO1, [RefSeq, PubMed]; Nrf3 is an N-glycosylated protein associated with the endoplasmic reticulum, [RefSeq, PubMed]; This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6NUS0;Q7Z498;Q86UJ4;Q86VR5;Q9UQA4", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006366 transcription by RNA polymerase II;GO:0140467 integrated stress response signaling", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9Y4A8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWI9-4", "uniprot_id": [ { "id": "MGAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWI9", "type": "external" } ], "mass": 336159.0, "length": 3065, "protein_name": "MAX gene-associated protein", "gene_name": "MGA", "organism": "Human", "refseq_name": "MAX gene-associated protein isoform 2", "refseq_ac": [ { "id": "NP_001074010", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074010", "type": "external" } ], "gene_names_uniprotkb": "MGA; KIAA0518; MAD5", "gene_names_refseq": "MAD5; MGA; MXD5; POF26", "protein_names_uniprotkb": "MAX gene-associated protein; MAX dimerization protein 5", "protein_names_refseq": "MAX dimerization protein 5; MAX gene-associated protein isoform 2; MAX gene-associated protein; MGA, MAX dimerization protein", "tax_id": 9606, "disease": "premature ovarian failure 26 (MONDO:MONDO:0976129)", "pathway": " (hsa:23269); (R-HSA-8953750)", "pathway_count": 2, "publication_count": 121, "publication_id_list": "10.1101/2023.09.13.557529;11171983;12004135;12909625;15014447;15536069;15960975;17001316;17600109;18562691;18669648;19690332;20068230;20068231;21406692;21596310;21740066;23186163;23301498;23372760;23954429;24129315;24627085;25218447;25645385;25755297;25772364;26728094;26992070;27600516;27869121;27920218;28218747;28228285;28514659;28657654;28832583;28834231;29237092;29242379;29331515;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30059200;30315122;30379171;30484775;30620550;31154438;31217245;31492838;31844290;31862696;31998317;32119511;32157095;32161166;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33141586;33298915;33392160;33592498;33633747;33717175;33912179;33936100;33968037;34087483;34171305;34185709;34509645;34561969;34846842;34932366;35051231;35132862;35254053;35289036;35318648;35494241;35513511;35580925;35705054;36010968;36215666;36241641;36284347;37340703;37541260;37938771;38253038;38454121;38665916;38838015;39298484;39302247;39531497;39534244;39545409;40136647;40307207;40596516;41350704;7623816;9501179;9689056;9704927", "class_list": "", "function": "Functional characterization of cooperating MGA mutations in RUNX1::RUNX1T1 acute myeloid leukemia., [RefSeq, PubMed]; Functions as a dual-specificity transcription factor, regulating the expression of both MAX-network and T-box family target genes. Functions as a repressor or an activator. Binds to 5'-AATTTCACACCTAGGTGTGAAATT-3' core sequence and seems to regulate MYC-MAX target genes. Suppresses transcriptional activation by MYC and inhibits MYC-dependent cell transformation. Function activated by heterodimerization with MAX. This heterodimerization serves the dual function of both generating an E-box-binding heterodimer and simultaneously blocking interaction of a corepressor (By similarity)., [UniProtKB, UniProtKB]; In vivo CRISPR screens identify Mga as an immunotherapy target in triple-negative breast cancer., [RefSeq, PubMed]; Multi-Omics Analysis Identifies MGA as a Negative Regulator of the MYC Pathway in Lung Adenocarcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 19, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 19, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 19, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 160, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "B9EGR5;E7ENI0;F5H7K2;Q9H8R3;Q9H9N7;Q9UG69;Q9Y4E9", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0071339 MLL1 complex", "go_biological_process": "GO:0001708 cell fate specification;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "Q8IWI9-4", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60675-1", "uniprot_id": [ { "id": "MAFK_HUMAN", "url": "https://www.uniprot.org/uniprot/O60675", "type": "external" } ], "mass": 17523.0, "length": 156, "protein_name": "Transcription factor MafK", "gene_name": "MAFK", "organism": "Human", "refseq_name": "transcription factor MafK", "refseq_ac": [ { "id": "NP_002351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002351", "type": "external" } ], "gene_names_uniprotkb": "MAFK", "gene_names_refseq": "MAFK; NFE2U; P18", "protein_names_uniprotkb": "Transcription factor MafK; Erythroid transcription factor NF-E2 p18 subunit", "protein_names_refseq": "NF-E2 ubiquitous subunit; basic-leucine zipper transcription factor MafK; erythroid transcription factor NF-E2 p18 subunit; nuclear factor erythroid-2, ubiquitous (p18); transcription factor MafK; v-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein K; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K; v-maf musculoaponeurotic fibrosarcoma oncogene homolog K", "tax_id": 9606, "disease": "", "pathway": " (hsa:7975); (R-HSA-9707587); (R-HSA-9707616); (R-HSA-9708530); (R-HSA-9759194); (R-HSA-9818026); (R-HSA-9818027); (R-HSA-9818030); (R-HSA-9818032); (R-HSA-9818035); (R-HSA-9818749); (R-HSA-983231); (R-HSA-9943962)", "pathway_count": 13, "publication_count": 217, "publication_id_list": "10198158;10381560;10706635;10733945;10821856;10921920;11042108;11062261;11242053;11274398;11309284;11356022;11387216;11507205;11744692;11744694;11751636;11895428;11940647;11950885;12032298;12130498;12134158;12234984;12235164;12356737;12427746;12506115;12511571;15020713;15175654;15247287;15448164;15520857;15590625;15665827;15710388;15728556;15761026;15855052;15960975;16054028;16095617;16220540;1630448;16314513;16878130;16949368;17027967;17027977;17143291;17196961;17234762;17350655;17430897;17603073;17925401;17942419;18006707;18037887;18378692;18669648;18691976;19028565;19273602;19293402;19608619;19690332;19710360;19897490;20068230;20068231;20112406;20452972;20453063;20460467;20530532;20581824;20627800;20628156;20682644;20817722;21087962;21158410;21479263;21606357;21734707;21775727;218813;21899694;22275372;22581777;22661428;22667998;22789539;22995213;23027624;23077289;23186163;23275004;23285124;23408615;23667609;24035498;24041992;24298019;24463449;24921206;24958774;25002527;25349122;2539258;25576301;26482881;26811146;26845023;26992070;27100828;27114449;27161318;27588483;27653015;27754849;27756681;27846572;28111073;28112439;28533432;28657654;28985506;29155886;29233872;29237092;29351928;29450944;29526543;29557506;29693710;29959055;30059200;30379171;30429286;30620550;31492838;31597407;31637018;31748741;31771235;31844290;32157095;32265295;32284348;32354867;32387766;32502341;32574038;32582032;32601262;32640524;32649885;32695117;32938616;32983136;33043019;33214551;3345742;33462411;33592498;33774477;33859744;33877894;33916908;33968037;34019948;3409321;34171305;34846842;34931806;35051231;35071413;35132862;35254053;35260530;35289036;35318648;35513511;35705054;36010968;36241641;37340703;37541260;37938771;38665916;39302247;39531497;39534244;40307207;40596516;6261960;7959763;8415693;8622974;8662638;8816476;8887638;8932385;9065479;9079689;9144434;9150357;9230307;9240432;9326583;9331217;9422515;9544839;9927674", "class_list": "", "function": "MAFK Polymorphisms Located in 3'-UTR are Associated with Severity of Atrophy and CDKN2A Methylation Status in the Gastric Mucosa., [RefSeq, PubMed]; MafK accelerates Salmonella mucosal infection through caspase-3 activation., [RefSeq, PubMed]; Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves (PubMed:9150357). However, they act as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2, NFE2L1/NRF1, NFE2L2/NRF2 and NFE2L3/NRF3, and recruiting them to specific DNA-binding sites (PubMed:8932385, PubMed:9150357). Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor (PubMed:9150357)., [UniProtKB, PubMed, PubMed]; The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 612386). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM, Nov 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A4D214", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 23.3, "record_id": "O60675-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUK6-1", "uniprot_id": [ { "id": "MSTO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUK6", "type": "external" } ], "mass": 61835.0, "length": 570, "protein_name": "Protein misato homolog 1", "gene_name": "MSTO1", "organism": "Human", "refseq_name": "protein misato homolog 1 isoform b", "refseq_ac": [ { "id": "NP_001243461", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243461", "type": "external" } ], "gene_names_uniprotkb": "MSTO1; LST005; SLTP005", "gene_names_refseq": "LST005; MMYAT; MSTO1; MST", "protein_names_uniprotkb": "Protein misato homolog 1", "protein_names_refseq": "misato 1, mitochondrial distribution and morphology regulator; protein misato homolog 1 isoform b; protein misato homolog 1", "tax_id": 9606, "disease": "mitochondrial myopathy and ataxia (Disease Ontology:DOID:0070750); myotonia congenita (Disease Ontology:DOID:2106)", "pathway": " (hsa:55154)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;17349998;18669648;19413330;20068231;23301498;23783831;25418920;25645385;26375851;26992070;27600516;27862975;28218747;28544275;28554942;28832583;28904123;29242379;29437277;29557506;29632711;30315122;30429286;31463572;31844290;31998317;32157095;32350084;32357974;32387766;32938616;33222031;33298915;33537174;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35580925;36010968;36215666;37431816", "class_list": "", "function": "Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy., [RefSeq, PubMed]; Evidence of motor axon or motor neuron damage in a Chinese patient with compound heterozygous MSTO1 variants., [RefSeq, PubMed]; Involved in the regulation of mitochondrial distribution and morphology (PubMed:17349998, PubMed:28544275, PubMed:28554942). Required for mitochondrial fusion and mitochondrial network formation (PubMed:28544275, PubMed:28554942)., [UniProtKB, PubMed, PubMed, PubMed]; Involved in the regulation of mitochondrial distribution and morphology. Required for mitochondrial fusion and mitochondrial network formation., [UniProtKB, UniProtKB]; MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement., [RefSeq, PubMed]; Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia, [RefSeq, PubMed]; These results indicated that human Misato has a role(s) in mitochondrial distribution and morphology and that its unregulated expression leads to cell death., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53GR8;Q5CZ69;Q5T717;Q68CT6;Q7LBZ8;Q7Z3M7;Q7Z558;Q8TE05;Q9NQX2;Q9NVU4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol", "go_biological_process": "GO:0010636 positive regulation of mitochondrial fusion;GO:0007005 mitochondrion organization;GO:0048311 mitochondrion distribution", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9BUK6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NJI9-1", "uniprot_id": [ { "id": "LRC72_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NJI9", "type": "external" } ], "mass": 33656.0, "length": 287, "protein_name": "Leucine-rich repeat-containing protein 72", "gene_name": "LRRC72", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 72", "refseq_ac": [ { "id": "NP_001182209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182209", "type": "external" } ], "gene_names_uniprotkb": "LRRC72", "gene_names_refseq": "CFAP279; FAP279; LRRC72", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 72", "protein_names_refseq": "leucine-rich repeat-containing protein 72; leucine-rich repeat-containing protein ENSP00000371558", "tax_id": 9606, "disease": "", "pathway": " (hsa:100506049)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;20379614;25418920;29393594", "class_list": "", "function": "Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med. 2012;18(1):729], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NJI9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3SXZ7-1", "uniprot_id": [ { "id": "TTLL9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3SXZ7", "type": "external" } ], "mass": 51472.0, "length": 439, "protein_name": "Probable tubulin polyglutamylase TTLL9", "gene_name": "TTLL9", "organism": "Human", "refseq_name": "probable tubulin polyglutamylase TTLL9 isoform 1", "refseq_ac": [ { "id": "NP_001008409", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008409", "type": "external" } ], "gene_names_uniprotkb": "TTLL9; C20orf125", "gene_names_refseq": "C20orf125; TTLL9", "protein_names_uniprotkb": "Probable tubulin polyglutamylase TTLL9; 6.3.2.-; Tubulin--tyrosine ligase-like protein 9", "protein_names_refseq": "probable tubulin polyglutamylase TTLL9 isoform 1; probable tubulin polyglutamylase TTLL9; tubulin tyrosine ligase-like family, member 9; tubulin--tyrosine ligase-like protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:164395); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "11237011;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20519502;21074048;23358242;25103237;25468068;25957412;29146868;33592498;39894887;7452228", "class_list": "", "function": "Probable tubulin polyglutamylase that generates side chains of glutamate on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of target proteins. Similar to TTLL1, may acquire enzymatic activity only in complex with other proteins as it is most likely lacking domains important for autonomous activity. Mediates tubulin polyglutamylation which induces establishment of microtubule heterogeneity in sperm flagella, thereby playing a role in normal motile flagella axoneme structure and sperm flagella beating pattern., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NH06;A6NIS5;B3KSG8;Q3SXZ8;Q5JYS3;Q5JYS4", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "6.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.-", "type": "external" }, { "id": "6.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.-.-.-", "type": "external" } ], "go_molecular_function": "GO:0070740 tubulin-glutamic acid ligase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0015631 tubulin binding;GO:0106438 protein-glutamic acid ligase activity, elongating", "go_cellular_component": "GO:0005874 microtubule;GO:0036064 ciliary basal body", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q3SXZ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6Q1-1", "uniprot_id": [ { "id": "TMC5A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6Q1", "type": "external" } ], "mass": 34174.0, "length": 288, "protein_name": "Transmembrane and coiled-coil domain-containing protein 5A", "gene_name": "TMCO5A", "organism": "Human", "refseq_name": "transmembrane and coiled-coil domain-containing protein 5A isoform 2", "refseq_ac": [ { "id": "NP_001317184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317184", "type": "external" } ], "gene_names_uniprotkb": "TMCO5A; TMCO5", "gene_names_refseq": "TMCO5A; TMCO5", "protein_names_uniprotkb": "Transmembrane and coiled-coil domain-containing protein 5A", "protein_names_refseq": "testicular tissue protein Li 205; transmembrane and coiled-coil domain-containing protein 5A isoform 2; transmembrane and coiled-coil domain-containing protein 5A; transmembrane and coiled-coil domains 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:145942)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;19679847;21577013;31154438;31844290;33592498", "class_list": "", "function": "Longer survival was associated with hypomethylation at specific CpG sites (e.g. GREB1, TGIF and TOB1) and hypermethylation in other genes (e.g. TMCO5, PTPRN and GUCY2C)., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NA63", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N6Q1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00295-1", "uniprot_id": [ { "id": "TULP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O00295", "type": "external" } ], "mass": 58664.0, "length": 520, "protein_name": "Tubby-related protein 2", "gene_name": "TULP2", "organism": "Human", "refseq_name": "tubby-related protein 2", "refseq_ac": [ { "id": "NP_003314", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003314", "type": "external" } ], "gene_names_uniprotkb": "TULP2; TUBL2", "gene_names_refseq": "CT65; TUBL2; TULP2", "protein_names_uniprotkb": "Tubby-related protein 2; CT65; Cancer/testis antigen 65; Tubby-like protein 2", "protein_names_refseq": "cancer testis antigen 65; tubby like protein 2; tubby-related protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7288)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;15905330;21248752;24715725;34087483;35051231;9096357", "class_list": "", "function": "TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8TC50", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005929 cilium", "go_biological_process": "GO:0007601 visual perception;GO:0061512 protein localization to cilium", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "O00295-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86TV6-1", "uniprot_id": [ { "id": "TTC7B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86TV6", "type": "external" } ], "mass": 94179.0, "length": 843, "protein_name": "Tetratricopeptide repeat protein 7B", "gene_name": "TTC7B", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 7B isoform 1", "refseq_ac": [ { "id": "NP_001010854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010854", "type": "external" } ], "gene_names_uniprotkb": "TTC7B; TTC7L1", "gene_names_refseq": "TTC7B; TTC7L1; c14_5685", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 7B; TPR repeat protein 7-like-1; TPR repeat protein 7B; Tetratricopeptide repeat protein 7-like-1", "protein_names_refseq": "TPR repeat protein 7-like-1; TPR repeat protein 7B; tetratricopeptide repeat domain 7 like 1; tetratricopeptide repeat protein 7-like-1; tetratricopeptide repeat protein 7B isoform 1; tetratricopeptide repeat protein 7B", "tax_id": 9606, "disease": "", "pathway": " (hsa:145567)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;18220336;18691976;19413330;19651622;19690332;20166139;22453632;23186163;23229899;24275569;24715725;25608530;26571211;29393594;29557506;30379171;31154438;32157095;32488085;32938616;33634591;33936100;33981976;34171305;35051231;35494241;37990988", "class_list": "", "function": "14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients., [RefSeq, PubMed]; Associated with IS risk in the Spanish and combined data sets. Multiple independent lines of evidence therefore support the role of TTC7B in stroke susceptibility, [RefSeq, PubMed]; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging PI4KA to EFR3B and HYCC1, via direct interactions (PubMed:26571211)., [UniProtKB, PubMed, PubMed]; TTC7B is a new prognostic biomarker in head and neck squamous cell carcinoma linked to immune infiltration and ferroptosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86U24;Q86VT3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0046854 phosphatidylinositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q86TV6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60235-1", "uniprot_id": [ { "id": "TM11D_HUMAN", "url": "https://www.uniprot.org/uniprot/O60235", "type": "external" } ], "mass": 46263.0, "length": 418, "protein_name": "Transmembrane protease serine 11D", "gene_name": "TMPRSS11D", "organism": "Human", "refseq_name": "transmembrane protease serine 11D", "refseq_ac": [ { "id": "NP_004253", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004253", "type": "external" } ], "gene_names_uniprotkb": "TMPRSS11D; HAT", "gene_names_refseq": "ASP; HAT; TMPRSS11D", "protein_names_uniprotkb": "Transmembrane protease serine 11D; 3.4.21.-; Airway trypsin-like protease", "protein_names_refseq": "adrenal secretory serine protease; airway trypsin-like protease; transmembrane protease serine 11D; transmembrane protease, serine 11D", "tax_id": 9606, "disease": "", "pathway": " (hsa:9407)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12630574;15102084;23536651;24227843;30620550;33671076;36010968;36529562;37666068;9070615;9565616", "class_list": "", "function": "HAT might promote PAR-2-mediated IL-8 production to accumulate inflammatory cells in the epidermal layer of psoriasis., [RefSeq, PubMed]; HAT regulates cellular functions of human bronchial epithelial cells via activation of protease-activated receptor-2., [RefSeq, PubMed]; HalphaT is associated with increased risk for severe Hymenoptera venom-triggered anaphylaxis., [RefSeq, PubMed]; May play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. Plays a role in the proteolytic processing of ACE2. Proteolytically cleaves and activates the human coronavirus 229E (HCoV-229E) spike glycoprotein which facilitate virus-cell membrane fusions; spike proteins are synthesized and maintained in precursor intermediate folding states and proteolysis permits the refolding and energy release required to create stable virus-cell linkages and membrane coalescence. Preferentially cleaves the C-terminal side of arginine residues at the P1 position of certain peptides, cleaving Boc-Phe-Ser-Arg-4-methylcoumaryl-7-amide most efficiently and having an optimum pH of 8.6 with this substrate., [UniProtKB, PubMed, PubMed]; TMPRSS11D and TMPRSS13 Activate the SARS-CoV-2 Spike Protein. Publication Status: Online-Only, [RefSeq, PubMed]; TMPRSS11D/ALR-mediated ER stress regulates the function of myeloid-derived suppressor cells in the cervical cancer microenvironment., [RefSeq, PubMed]; This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. This protein facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins. [provided by RefSeq, Aug 2021]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q08AF6", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008233 peptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing;GO:0007585 respiratory gaseous exchange by respiratory system", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "O60235-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5S1-1", "uniprot_id": [ { "id": "TRPV2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5S1", "type": "external" } ], "mass": 85981.0, "length": 764, "protein_name": "Transient receptor potential cation channel subfamily V member 2", "gene_name": "TRPV2", "organism": "Human", "refseq_name": "transient receptor potential cation channel subfamily V member 2", "refseq_ac": [ { "id": "NP_057197", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057197", "type": "external" } ], "gene_names_uniprotkb": "TRPV2; VRL", "gene_names_refseq": "TRPV2; VRL-1; VRL1; VRL", "protein_names_uniprotkb": "Transient receptor potential cation channel subfamily V member 2; OTRPC2; Osm-9-like TRP channel 2; TrpV2; VRL-1; Vanilloid receptor-like protein 1", "protein_names_refseq": "OTRPC2; osm-9-like TRP channel 2; transient receptor potential cation channel subfamily V member 2; vanilloid receptor-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51393); (R-HSA-3295583)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10201375;11050376;11226139;11237011;11243859;11301059;12015988;1422598;14634208;16882997;17081065;19651622;20025796;20716668;22424782;23481700;24714562;24715725;25389312;25418920;25502872;25576301;25645385;25765567;25855297;26154972;26375851;26728094;26811146;26992070;27452731;27600516;27846572;27920218;28218747;28228285;28467828;28514659;28649982;28832583;28904123;29242379;29331515;29393594;29437277;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30524438;31844290;32157095;32265295;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33691108;33717175;33912179;33936100;33968037;34211107;34357683;34405274;34433824;34509645;34561969;35051231;35154160;35251023;35318648;35561310;35580925;36284347;37938771;38353705;38678280;38816425;39227967;39285320", "class_list": "", "function": "Calcium-permeable, non-selective cation channel (PubMed:10201375). Seems to be regulated, at least in part, by growth factors, such as IGF1, PDGF and morphogenetic neuropeptide/head activator. May transduce physical stimuli in mast cells (By similarity)., [UniProtKB, UniProtKB, PubMed]; Ion channel TRPV2 is critical in enhancing B cell activation and function., [RefSeq, PubMed]; TCAF1 promotes TRPV2-mediated Ca[2+] release in response to cytosolic DNA to protect stressed replication forks. Publication Status: Online-Only, [RefSeq, PubMed]; TRPV2 modulates mechanically Induced ATP Release from Human bronchial epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; TRPV2: a universal regulator in cellular physiology with a yet poorly defined thermosensitivity. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]., [RefSeq]; Tyrosine phosphorylation and palmitoylation of TRPV2 ion channel tune microglial beta-amyloid peptide phagocytosis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NML2;A8K0Z0;Q9Y670", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005216 monoatomic ion channel activity;GO:0005262 calcium channel activity;GO:0005261 monoatomic cation channel activity;GO:0015075 monoatomic ion transmembrane transporter activity", "go_cellular_component": "GO:0032584 growth cone membrane;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0042470 melanosome;GO:0044297 cell body", "go_biological_process": "GO:0007600 sensory perception;GO:0009266 response to temperature stimulus;GO:0045773 positive regulation of axon extension;GO:0070588 calcium ion transmembrane transport;GO:0090280 positive regulation of calcium ion import", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9Y5S1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXF1-1", "uniprot_id": [ { "id": "TM108_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXF1", "type": "external" } ], "mass": 59948.0, "length": 575, "protein_name": "Transmembrane protein 108", "gene_name": "TMEM108", "organism": "Human", "refseq_name": "transmembrane protein 108 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001129941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129941", "type": "external" } ], "gene_names_uniprotkb": "TMEM108; KIAA1690; PRO4318; RTLN", "gene_names_refseq": "CT124; RTLN; TMEM108", "protein_names_uniprotkb": "Transmembrane protein 108; Retrolinkin", "protein_names_refseq": "cancer/testis antigen 124; retrolinkin; transmembrane protein 108 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:66000)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;12975309;29557506;30429286;31611695;31848261;32387766;33592498", "class_list": "", "function": "Transmembrane protein required for proper cognitive functions. Involved in the development of dentate gyrus (DG) neuron circuitry, is necessary for AMPA receptors surface expression and proper excitatory postsynaptic currents of DG granule neurons. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Through the interaction with DST, mediates the docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport. In hippocampal neurons, required for BDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 and recruits the WAVE1 complex to facilitate actin-dependent BDNF:NTRK2 early endocytic trafficking and mediate signaling from early endosomes., [UniProtKB, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DNC9;Q9BQH1;Q9BW81;Q9C0H3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005769 early endosome;GO:0014069 postsynaptic density;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0008090 retrograde axonal transport;GO:1990416 cellular response to brain-derived neurotrophic factor stimulus;GO:0031175 neuron projection development;GO:0098815 modulation of excitatory postsynaptic potential;GO:0051388 positive regulation of neurotrophin TRK receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q6UXF1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZQ9-1", "uniprot_id": [ { "id": "TMOD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZQ9", "type": "external" } ], "mass": 39335.0, "length": 345, "protein_name": "Tropomodulin-4", "gene_name": "TMOD4", "organism": "Human", "refseq_name": "tropomodulin-4", "refseq_ac": [ { "id": "NP_037485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037485", "type": "external" } ], "gene_names_uniprotkb": "TMOD4", "gene_names_refseq": "SK-TMOD; TMOD4", "protein_names_uniprotkb": "Tropomodulin-4; Sk-Tmod; Skeletal muscle tropomodulin", "protein_names_refseq": "actin-capping protein; skeletal muscle tropomodulin; skeletal tropomodulin; tropomodulin 4 (muscle); tropomodulin-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:29765); (R-HSA-390522)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "10497209;10662549;10747208;11237011;25250574;29393594;29557506;35051231", "class_list": "", "function": "Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z6N9;Q5JR83;Q8WVL3;Q9UKH2", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005523 tropomyosin binding", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005865 striated muscle thin filament;GO:0030016 myofibril;GO:0005737 cytoplasm", "go_biological_process": "GO:0006936 muscle contraction;GO:0007015 actin filament organization;GO:0051694 pointed-end actin filament capping;GO:0030239 myofibril assembly", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9NZQ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SRH9-1", "uniprot_id": [ { "id": "TT39A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SRH9", "type": "external" } ], "mass": 69778.0, "length": 613, "protein_name": "Tetratricopeptide repeat protein 39A", "gene_name": "TTC39A", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 39A isoform 2", "refseq_ac": [ { "id": "NP_001073963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073963", "type": "external" } ], "gene_names_uniprotkb": "TTC39A; C1orf34; KIAA0452", "gene_names_refseq": "C1orf34; DEME-6; TTC39A", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 39A; DEME-6; Differentially expressed in MCF-7 with estradiol protein 6; TPR repeat protein 39A", "protein_names_refseq": "TPR repeat protein 39A; differentially expressed in MCF-7 with estradiol protein 6; differentially expressed in MCF7 with estradiol protein 6; testicular tissue protein Li 213; tetratricopeptide repeat protein 39A isoform 2; tetratricopeptide repeat protein 39A", "tax_id": 9606, "disease": "", "pathway": " (hsa:22996)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;25576301;30779550;30833945;31844290;31848261;33981976;34087483;34171305;35051231;35318648;36241641;37217939;37938771;9461476", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z782;E7EQY9;G3XAF8;O43417;O75040;Q5SRH5;Q5SRH6;Q5SRH7;Q5SRH8;Q5SRI0;Q5SRI1;Q5SRI2;Q5T7S1;Q6PIU8;Q9BT24", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q5SRH9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTY8-1", "uniprot_id": [ { "id": "TMPS7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTY8", "type": "external" } ], "mass": 94415.0, "length": 843, "protein_name": "Transmembrane protease serine 7", "gene_name": "TMPRSS7", "organism": "Human", "refseq_name": "transmembrane protease serine 7 isoform 1", "refseq_ac": [ { "id": "NP_001036040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036040", "type": "external" } ], "gene_names_uniprotkb": "TMPRSS7", "gene_names_refseq": "TMPRSS7", "protein_names_uniprotkb": "Transmembrane protease serine 7; 3.4.21.-; Matriptase-3", "protein_names_refseq": "matriptase-3; transmembrane protease serine 7 isoform 1; transmembrane protease, serine 7; type II transmembrane serine protease 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:344805)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12838346;15853774;25029565;29242379;29393594;31844290;35051231", "class_list": "", "function": "Serine protease which preferentially hydrolyzes peptides with Arg at the P1 position., [UniProtKB]; Single nucleotide polymorphism in TMPRSS7(rs2399403) is significantly associated with breast cancer risk. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9J8P7;E9PAS3;Q17RH4", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q7RTY8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y606-1", "uniprot_id": [ { "id": "PUS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y606", "type": "external" } ], "mass": 47470.0, "length": 427, "protein_name": "Pseudouridylate synthase 1 homolog", "gene_name": "PUS1", "organism": "Human", "refseq_name": "pseudouridylate synthase 1 homolog isoform 2", "refseq_ac": [ { "id": "NP_001002019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002019", "type": "external" } ], "gene_names_uniprotkb": "PUS1; PP8985", "gene_names_refseq": "MLASA1; PUS1", "protein_names_uniprotkb": "Pseudouridylate synthase 1 homolog; 5.4.99.-; 5.4.99.12; tRNA pseudouridine synthase 1; tRNA pseudouridine(38-40) synthase; tRNA pseudouridylate synthase I; tRNA-uridine isomerase I", "protein_names_refseq": "mitochondrial tRNA pseudouridine synthase A; pseudouridylate synthase 1 homolog isoform 2; pseudouridylate synthase 1 homolog; pseudouridylate synthase 1; tRNA pseudouridine synthase 1; tRNA pseudouridine synthase A, mitochondrial; tRNA pseudouridine(38-40) synthase; tRNA pseudouridylate synthase I; tRNA uridine isomerase I", "tax_id": 9606, "disease": "myopathy, lactic acidosis, and sideroblastic anemia (Disease Ontology:DOID:0080099); myopathy, lactic acidosis, and sideroblastic anemia 1 (Disease Ontology:DOID:0111185)", "pathway": " (hsa:80324)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "10094309;11237011;15108122;15498874;15772074;15971356;16959974;16964243;17056637;17081983;17322306;18083107;18669648;18767875;19413330;19651622;19664995;19731322;20068231;21406692;21686963;22617051;23186163;23707380;24275569;24715725;24722331;25227147;25576301;26154972;26556812;26992070;28218747;28228285;28832011;28832583;29242379;29393594;29493099;30315122;31217245;31477916;31844290;32157095;32287105;32387766;32488085;32502341;33141586;33298915;33691108;33936100;33968037;34019948;34171305;34357683;34433824;34509645;34725712;35051231;35051350;35154160;36010968;36284347;37217939;38015993;40914422", "class_list": "", "function": "A new homozygous stop mutation (E220X)predicts a protein missing 208/427 amino acid residues on the C terminus. The nuclear isoform has an N-terminal extension absent in the mature mitochondrial isoform., [RefSeq, PubMed]; MLASA is associated with absent or greatly reduced tRNA pseudouridylation at specific sites, implicating this pathway in its molecular pathogenesis., [RefSeq, PubMed]; Missense mutation in pseudouridine synthase 1 causes mitochondrial myopathy and sideroblastic anemia, [RefSeq, PubMed]; Pseudouridine synthase 1 promotes hepatocellular carcinoma through mRNA pseudouridylation to enhance the translation of oncogenic mRNAs., [RefSeq, PubMed]; Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing., [RefSeq, PubMed]; Pseudouridylate synthase that catalyzes pseudouridylation of tRNAs and mRNAs (PubMed:15772074, PubMed:24722331). Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA (PubMed:24722331). Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3' (PubMed:31477916, PubMed:35051350). Acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions (PubMed:35051350). Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing (PubMed:35051350). Involved in regulation of nuclear receptor activity through pseudouridylation of SRA1 mRNA (PubMed:24722331)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Pseudouridylate synthase that catalyzes pseudouridylation of tRNAs and mRNAs. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3'. Acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions. Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing. Involved in regulation of nuclear receptor activity through pseudouridylation of SRA1 mRNA., [UniProtKB, UniProtKB, UniProtKB]; These results demonstrate a structure-dependent mode of mRNA target recognition by a conserved pseudouridine synthase and implicate modulation of RNA structure as the probable mechanism to regulate mRNA pseudouridylation., [RefSeq, PubMed]; This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K877;B3KQC1;Q8WYT2;Q9BU44", "ec_number_list": [ { "id": "5.4.99.25", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.25", "type": "external" }, { "id": "5.4.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.-", "type": "external" }, { "id": "5.4.99.42", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.42", "type": "external" }, { "id": "5.4.99.28", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.28", "type": "external" }, { "id": "5.4.99.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.12", "type": "external" }, { "id": "5.4.99.45", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.45", "type": "external" } ], "go_molecular_function": "GO:0002153 steroid receptor RNA activator RNA binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0000049 tRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0031119 tRNA pseudouridine synthesis;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:1990481 mRNA pseudouridine synthesis;GO:0070902 mitochondrial tRNA pseudouridine synthesis", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9Y606-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SNT2-1", "uniprot_id": [ { "id": "TM201_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SNT2", "type": "external" } ], "mass": 72236.0, "length": 666, "protein_name": "Transmembrane protein 201", "gene_name": "TMEM201", "organism": "Human", "refseq_name": "transmembrane protein 201 isoform 2", "refseq_ac": [ { "id": "NP_001010866", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010866", "type": "external" } ], "gene_names_uniprotkb": "TMEM201; NET5; SAMP1", "gene_names_refseq": "Ima1; NET5; SAMP1; TMEM201", "protein_names_uniprotkb": "Transmembrane protein 201; Spindle-associated membrane protein 1", "protein_names_refseq": "RP13-15M17.2; spindle-associated membrane protein 1; transmembrane protein 201 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:199953)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;17693683;18669648;18691976;19494128;19651622;19691289;20068231;20112406;21610090;23186163;23584533;24715725;24950247;25418920;25813380;26929215;26992070;27541860;27600516;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29514856;29557506;29632046;29769354;30315122;30524438;30793190;31217245;31844290;32157095;32387766;32488085;32897882;33392160;33717175;33968037;33981976;34019948;34211107;34561969;35051231;35311970;35580925;36010968;37217939;37373430;37938771;38665916", "class_list": "", "function": "Authors show that Samp1 is involved in the recruitment of HAUS6 and gamma-tubulin to the mitotic spindle. Samp1 is the first inner nuclear membrane protein shown to have a function in mitotic spindle assembly. Publication Status: Online-Only, [RefSeq, PubMed]; Characterization of a transmembrane protein of the nuclear envelope that we name spindle-associated membrane protein 1 (Samp1); Samp1 defines a specific membrane domain associated with the mitotic spindle, [RefSeq, PubMed]; Characterization of the Clinical Significance and Immunological Landscapes of a Novel TMEMs Signature in Hepatocellular Carcinoma and the Contribution of TMEM201 to Hepatocarcinogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Critical regulator of angiogenesis and endothelial cell (EC) migration (PubMed:35311970). Promotes the migration of endothelial cells, which is essential for angiogenesis (PubMed:35311970). Interacts with the linker of nucleoskeleton and cytoskeleton (LINC) complex, which plays a vital role in connecting the cell's cytoskeleton to the nuclear envelope (PubMed:35311970). This interaction is essential for maintaining cellular structure and facilitating the movement of endothelial cells, which is critical for proper vascular development (PubMed:35311970). Involved in nuclear movement during fibroblast polarization and migration (By similarity). Overexpression can recruit Ran GTPase to the nuclear periphery (PubMed:27541860)., [UniProtKB, UniProtKB, PubMed, PubMed]; Inner nuclear membrane protein TMEM201 maintains endothelial cell migration and angiogenesis by interacting with the LINC complex., [RefSeq, PubMed]; May define a distinct membrane domain in the vicinity of the mitotic spindle (PubMed:19494128). Involved in the organization of the nuclear envelope implicating EMD, SUN1 and A-type lamina (PubMed:21610090)., [UniProtKB, PubMed, PubMed]; The nucleoplasmic domains of Samp1 and Emerin can bind directly to each other., [RefSeq, PubMed]; We also found that peripheral heterochromatin depended on the levels of the inner nuclear membrane protein Samp1, suggesting an important role in promoting peripheral heterochromatin. Taken together, FRIC is a powerful and robust new tool to study dynamic chromatin redistribution in live cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 13, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B9EH90;Q5SNT3", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0005521 lamin binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0031965 nuclear membrane;GO:0005637 nuclear inner membrane", "go_biological_process": "GO:0090435 protein localization to nuclear envelope;GO:0001525 angiogenesis;GO:0010595 positive regulation of endothelial cell migration;GO:0006998 nuclear envelope organization;GO:0051642 centrosome localization", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q5SNT2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6YI46-1", "uniprot_id": [ { "id": "TMM64_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6YI46", "type": "external" } ], "mass": 39665.0, "length": 380, "protein_name": "Transmembrane protein 64", "gene_name": "TMEM64", "organism": "Human", "refseq_name": "transmembrane protein 64 isoform 1", "refseq_ac": [ { "id": "NP_001008495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008495", "type": "external" } ], "gene_names_uniprotkb": "TMEM64", "gene_names_refseq": "TMEM64", "protein_names_uniprotkb": "Transmembrane protein 64", "protein_names_refseq": "transmembrane protein 64 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:169200)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;25418920;25469497;26154972;26811146;26929215;26992070;27600516;27846572;28514659;28832583;28834231;29242379;29393594;29557506;29632046;30573663;31154438;31814858;31844290;32488085;34087483;34171305;34357683;35051231;37712271;37938771", "class_list": "", "function": "Low TMEM64 expression is associated with Osteoporosis. Publication Status: Online-Only, [RefSeq, PubMed]; Positively regulates TNFSF11-induced osteoclast differentiation. Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with SERCA2 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca (2+) signaling cascades that promote osteoclast differentiation and activation. Negatively regulates osteoblast differentiation and positively regulates adipocyte differentiation via modulation of the canonical Wnt signaling pathway. Mediates the switch in lineage commitment to osteogenesis rather than to adipogenesis in mesenchymal stem cells by negatively regulating the expression, activity and nuclear localization of CTNNB1., [UniProtKB, UniProtKB]; [TMEM64 is highly expressed in hepatocellular carcinoma and promotes tumor cell proliferation and invasion]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DUC0;F5GXM4;Q2HIZ7;Q8N3G6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "GO:0045600 positive regulation of fat cell differentiation;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0051480 regulation of cytosolic calcium ion concentration;GO:0045780 positive regulation of bone resorption;GO:0045668 negative regulation of osteoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q6YI46-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3T8-1", "uniprot_id": [ { "id": "ZFY16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3T8", "type": "external" } ], "mass": 168903.0, "length": 1539, "protein_name": "Zinc finger FYVE domain-containing protein 16", "gene_name": "ZFYVE16", "organism": "Human", "refseq_name": "zinc finger FYVE domain-containing protein 16 isoform a", "refseq_ac": [ { "id": "NP_001098721", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098721", "type": "external" } ], "gene_names_uniprotkb": "ZFYVE16; KIAA0305", "gene_names_refseq": "PPP1R69; ZFYVE16", "protein_names_uniprotkb": "Zinc finger FYVE domain-containing protein 16; Endofin; Endosome-associated FYVE domain protein", "protein_names_refseq": "endosome-associated FYVE-domain protein; protein phosphatase 1, regulatory subunit 69; zinc finger FYVE domain-containing protein 16 isoform a; zinc finger FYVE domain-containing protein 16; zinc finger, FYVE domain containing 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:9765); (R-HSA-201451)", "pathway_count": 2, "publication_count": 102, "publication_id_list": "10458166;10587654;10712517;11016919;11121043;11158580;11237011;11278251;11509558;11546807;11571290;11714695;11779505;12151385;12519765;12592392;12821673;12857866;14613930;15144186;15592455;16672363;16964243;17029022;17068149;17272273;17311849;17356069;18669648;20068231;23033978;23186163;23301498;24366607;24714562;24715725;25576301;25645385;25880248;25892735;26992070;27600516;27846572;27920218;28228285;28657654;28832583;28834231;28904123;29242379;29393594;29557506;29786170;29789417;30192525;30315122;30379171;30429286;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32938750;32983136;33392160;33537174;33592498;33912179;33968037;33981976;34087483;34171305;34185709;34357683;34405274;35051231;35132862;35254053;35494241;35580925;36010968;36215666;36241641;36284347;36581221;37541260;37938771;38253038;39531497;40307207;41350704;7644468;7791754;8119126;8653785;8893010;9136927;9436979", "class_list": "", "function": "Facilitates TGF-beta signaling as a scaffold protein to promote the R-Smad-Smad4 complex formation by bringing Smad4 to the proximity of the receptor complex., [RefSeq, PubMed]; Marked recruitment of TOM1 to endosomes was observed in cells overexpressing endofin or its carboxyl-terminal fragment, [RefSeq, PubMed]; May be involved in regulating membrane trafficking in the endosomal pathway. Overexpression induces endosome aggregation. Required to target TOM1 to endosomes., [UniProtKB, PubMed, PubMed]; This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor-beta signaling pathway and is involved in positive and negative feedback regulation of the bone morphogenetic protein signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O15023;Q5H9U2;Q7LAU7;Q86T69;Q8N5L3;Q8NEK3", "ec_number_list": [], "go_molecular_function": "GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0008270 zinc ion binding;GO:0005545 1-phosphatidylinositol binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0031901 early endosome membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0030100 regulation of endocytosis;GO:0016197 endosomal transport;GO:0006622 protein targeting to lysosome;GO:0016050 vesicle organization", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q7Z3T8-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62079-1", "uniprot_id": [ { "id": "TSN5_HUMAN", "url": "https://www.uniprot.org/uniprot/P62079", "type": "external" } ], "mass": 30337.0, "length": 268, "protein_name": "Tetraspanin-5", "gene_name": "TSPAN5", "organism": "Human", "refseq_name": "tetraspanin-5", "refseq_ac": [ { "id": "NP_005714", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005714", "type": "external" } ], "gene_names_uniprotkb": "TSPAN5; TM4SF9", "gene_names_refseq": "NET-4; NET4; TM4SF9; TSPAN-5; TSPAN5", "protein_names_uniprotkb": "Tetraspanin-5; Tetraspan NET-4; Transmembrane 4 superfamily member 9; Tspan-5", "protein_names_refseq": "tetraspan NET-4; tetraspan TM4SF; tetraspanin-5; transmembrane 4 superfamily member 9; transmembrane 4 superfamily, member 8", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:10098); (R-HSA-977225)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10097139;10319874;10391242;10411933;10583407;10956649;11237011;11278841;11401442;11467836;11590439;118839;12454989;1270801;14506261;14567678;15064394;15962837;16174740;16799559;17425515;18065497;18070888;1837051;18449172;18484335;1849145;19011241;19658395;19828817;20676056;20807650;2118650;2195544;22065755;22131221;23813966;2409350;24833601;24893886;25523424;26018760;26417681;26668317;26686862;26807092;27862975;279930;28514659;28600292;2900981;3035556;3053705;3080684;3094007;3142462;31792032;31844290;32096299;32753686;33955149;34171305;35051231;3675579;37516108;38422804;8033412;8097946;8114934;8159701;8464497;8490014;8870004;9006323;9054935;9714763;9862427", "class_list": "", "function": "Data show that gene tetraspanin-5 (TSPAN5) is the target of miR-155 in breast cancer (BC)., [RefSeq, PubMed]; Part of TspanC8 subgroup, composed of 6 members that interact with the transmembrane metalloprotease ADAM10. This interaction is required for ADAM10 exit from the endoplasmic reticulum and for enzymatic maturation and trafficking to the cell surface as well as substrate specificity. Different TspanC8/ADAM10 complexes have distinct substrates (PubMed:26686862, PubMed:28600292, PubMed:37516108). Promotes ADAM10-mediated cleavage of CD44 (PubMed:26686862). Seems to regulate VE-cadherin expression in endothelial cells probably through interaction with ADAM10, promoting leukocyte transmigration (PubMed:28600292)., [UniProtKB, PubMed, PubMed, PubMed]; TSPAN5 influences serotonin and kynurenine: pharmacogenomic mechanisms related to alcohol use disorder and acamprosate treatment response., [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]., [RefSeq]; The relationship between expression of Tspan5 mRNA in maternal-fetal interface and tubal pregnancy., [RefSeq, PubMed]; Tspan5 promotes epithelial-mesenchymal transition and tumour metastasis of hepatocellular carcinoma by activating Notch signalling., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RDY2;O60628;O60746;Q6FHE5;Q9JLY1", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0045747 positive regulation of Notch signaling pathway;GO:0051604 protein maturation;GO:0051043 regulation of membrane protein ectodomain proteolysis", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "P62079-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TAX3-1", "uniprot_id": [ { "id": "TUT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TAX3", "type": "external" } ], "mass": 185166.0, "length": 1644, "protein_name": "Terminal uridylyltransferase 4", "gene_name": "TUT4", "organism": "Human", "refseq_name": "terminal uridylyltransferase 4 isoform a", "refseq_ac": [ { "id": "NP_001009881", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009881", "type": "external" } ], "gene_names_uniprotkb": "TUT4; KIAA0191; ZCCHC11", "gene_names_refseq": "PAPD3; TENT3A; TUT4; ZCCHC11", "protein_names_uniprotkb": "Terminal uridylyltransferase 4; 2.7.7.52; TUTase 4; Zinc finger CCHC domain-containing protein 11", "protein_names_refseq": "PAP associated domain containing 3; TUTase 4; terminal uridylyltransferase 4 isoform a; terminal uridylyltransferase 4; zinc finger CCHC domain-containing protein 11; zinc finger CCHC-type containing 11; zinc finger, CCHC domain containing 11", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); liver benign neoplasm (Disease Ontology:DOID:916)", "pathway": " (hsa:23318); (R-HSA-429947); (R-HSA-9819196); (R-HSA-9820865)", "pathway_count": 4, "publication_count": 114, "publication_id_list": "10.1101/2023.09.13.557529;10637334;10882133;11237011;11283721;11889047;1355481;14583602;14749774;15475613;16141059;16284618;16643855;17052452;17245413;17525332;17595167;18077418;18172165;18625844;19239894;19558367;19701194;19703396;22118463;22209328;23186163;23301498;23481700;23934149;24278031;24366607;24714562;25418920;25480299;25576301;25880248;25979828;26154972;26360614;26375851;26951377;26992070;27062923;27600516;27846572;27920218;28228285;28459456;28459457;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29632711;29643231;29786170;30122351;30315122;30379171;30779550;30833945;31036859;31154438;31217245;31222486;31630170;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33901943;33912179;33968037;33981976;34171305;34185709;34267371;34509645;34932366;34949722;35051231;35402882;35561310;35580925;36010968;36071058;36074823;36241641;36284347;36497000;37938771;38665916;9099687", "class_list": "", "function": "Identification of novel targets of miR-622 in hepatocellular carcinoma reveals common regulation of cooperating genes and outlines the oncogenic role of zinc finger CCHC-type containing 11., [RefSeq, PubMed]; RNA uridyl transferases TUT4/7 differentially regulate miRNA variants depending on the cancer cell type., [RefSeq, PubMed]; TENT2, TUT4, and TUT7 selectively regulate miRNA sequence and abundance. Publication Status: Online-Only, [RefSeq, PubMed]; Terminal Uridylyltransferases TUT4/7 Regulate microRNA and mRNA Homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Uridylyltransferase that mediates the terminal uridylation of mRNAs with short (less than 25 nucleotides) poly(A) tails, hence facilitating global mRNA decay (PubMed:25480299, PubMed:31036859). Essential for both oocyte maturation and fertility. Through 3' terminal uridylation of mRNA, sculpts, with TUT7, the maternal transcriptome by eliminating transcripts during oocyte growth (By similarity). Involved in microRNA (miRNA)-induced gene silencing through uridylation of deadenylated miRNA targets. Also functions as an integral regulator of microRNA biogenesis using 3 different uridylation mechanisms (PubMed:25979828). Acts as a suppressor of miRNA biogenesis by mediating the terminal uridylation of some miRNA precursors, including that of let-7 (pre-let-7), miR107, miR-143 and miR-200c. Uridylated miRNAs are not processed by Dicer and undergo degradation. Degradation of pre-let-7 contributes to the maintenance of embryonic stem (ES) cell pluripotency (By similarity). Also catalyzes the 3' uridylation of miR-26A, a miRNA that targets IL6 transcript. This abrogates the silencing of IL6 transcript, hence promoting cytokine expression (PubMed:19703396). In the absence of LIN28A, TUT7 and TUT4 monouridylate group II pre-miRNAs, which includes most of pre-let7 members, that shapes an optimal 3' end overhang for efficient processing (PubMed:25979828). Adds oligo-U tails to truncated pre-miRNAS with a 5' overhang which may promote rapid degradation of non-functional pre-miRNA species (PubMed:25979828). May also suppress Toll-like receptor-induced NF-kappa-B activation via binding to T2BP (PubMed:16643855). Does not play a role in replication-dependent histone mRNA degradation (PubMed:18172165). Due to functional redundancy between TUT4 and TUT7, the identification of the specific role of each of these proteins is difficult (By similarity) (PubMed:16643855, PubMed:18172165, PubMed:19703396, PubMed:25480299, PubMed:25979828). TUT4 and TUT7 restrict retrotransposition of long interspersed element-1 (LINE-1) in cooperation with MOV10 counteracting the RNA chaperonne activity of L1RE1. TUT7 uridylates LINE-1 mRNAs in the cytoplasm which inhibits initiation of reverse transcription once in the nucleus, whereas uridylation by TUT4 destabilizes mRNAs in cytoplasmic ribonucleoprotein granules (PubMed:30122351)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; We propose that ZCCHC11 is a unique TLR signal regulator, which interacts with TIFA after LPS treatment and suppresses the TRAF6-dependent activation of NF-kappaB. Erratum:[Biochem Biophys Res Commun. 2007 Feb 23;353(4):1121], [RefSeq, PubMed]; Zcchc11 fine tunes IL-6 production by uridylating miR-26a., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A0C4DFM7;A2RRP0;B7Z8J5;D3DQ35;Q12764;Q5TAX2;Q5TAX4;Q86XZ3", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.7.52", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.52", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0035198 miRNA binding;GO:0050265 RNA uridylyltransferase activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0019827 stem cell population maintenance;GO:0001556 oocyte maturation;GO:0010586 miRNA metabolic process;GO:0031054 pre-miRNA processing;GO:0031123 RNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q5TAX3-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NT89-1", "uniprot_id": [ { "id": "TRNP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NT89", "type": "external" } ], "mass": 23482.0, "length": 227, "protein_name": "TMF-regulated nuclear protein 1", "gene_name": "TRNP1", "organism": "Human", "refseq_name": "TMF-regulated nuclear protein 1", "refseq_ac": [ { "id": "NP_001013664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013664", "type": "external" } ], "gene_names_uniprotkb": "TRNP1; C1orf225; TRNP", "gene_names_refseq": "C1orf225; TNRP; TRNP1; TRNP", "protein_names_uniprotkb": "TMF-regulated nuclear protein 1", "protein_names_refseq": "TMF-regulated nuclear protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:388610)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;23622239;25576301;32938616;33968037;33981976;35051231;35580925", "class_list": "", "function": "DNA-binding factor that regulates the expression of a subset of genes and plays a key role in tangential, radial, and lateral expansion of the brain neocortex. Regulates neural stem cells proliferation and the production of intermediate neural progenitors and basal radial glial cells affecting the process of cerebral cortex gyrification. May control the proliferation rate of cells by regulating their progression through key cell-cycle transition points (By similarity)., [UniProtKB]; TRNP1 expression levels exhibit regional differences in the cerebral cortex of human fetuses, anticipating radial or tangential expansion., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000791 euchromatin", "go_biological_process": "GO:0021696 cerebellar cortex morphogenesis;GO:0006351 DNA-templated transcription;GO:0042127 regulation of cell population proliferation;GO:0061351 neural precursor cell proliferation;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6NT89-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0P6H9-1", "uniprot_id": [ { "id": "TMM62_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0P6H9", "type": "external" } ], "mass": 73133.0, "length": 643, "protein_name": "Transmembrane protein 62", "gene_name": "TMEM62", "organism": "Human", "refseq_name": "transmembrane protein 62 isoform a", "refseq_ac": [ { "id": "NP_079232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079232", "type": "external" } ], "gene_names_uniprotkb": "TMEM62", "gene_names_refseq": "TMEM62", "protein_names_uniprotkb": "Transmembrane protein 62", "protein_names_refseq": "transmembrane protein 62 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:80021)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19159218;24190977;24366607;25892735;26154972;26992070;27846572;28904123;29437277;29557506;30410026;31844290;32350084;32357974;32897882;32938616;33298915;33717175;33912179;33968037;34357683;34932366;35051231;35154160;35289036;35580925;36241641;36581221", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6I9Y5;Q9H5J6", "ec_number_list": [], "go_molecular_function": "GO:0016787 hydrolase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q0P6H9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5S9-1", "uniprot_id": [ { "id": "TM144_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5S9", "type": "external" } ], "mass": 37653.0, "length": 345, "protein_name": "Transmembrane protein 144", "gene_name": "TMEM144", "organism": "Human", "refseq_name": "transmembrane protein 144", "refseq_ac": [ { "id": "NP_060812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060812", "type": "external" } ], "gene_names_uniprotkb": "TMEM144", "gene_names_refseq": "SLC35G7; TMEM144", "protein_names_uniprotkb": "Transmembrane protein 144", "protein_names_refseq": "transmembrane protein 144", "tax_id": 9606, "disease": "", "pathway": " (hsa:55314)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;28467828;32983136", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DP24;Q49A05;Q9NUT3", "ec_number_list": [], "go_molecular_function": "GO:0015144 carbohydrate transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q7Z5S9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NV64-1", "uniprot_id": [ { "id": "TM39A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NV64", "type": "external" } ], "mass": 55667.0, "length": 488, "protein_name": "Transmembrane protein 39A", "gene_name": "TMEM39A", "organism": "Human", "refseq_name": "transmembrane protein 39A", "refseq_ac": [ { "id": "NP_060736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060736", "type": "external" } ], "gene_names_uniprotkb": "TMEM39A; SUSR2", "gene_names_refseq": "SUSR2; TMEM39A", "protein_names_uniprotkb": "Transmembrane protein 39A", "protein_names_refseq": "suppressor of SQST-1 aggregates in rpl-43 mutants; transmembrane protein 39A", "tax_id": 9606, "disease": "", "pathway": " (hsa:55254)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;16959974;19851296;20007504;20198315;25418920;25576301;25645385;25892735;26811146;26992070;27846572;28133515;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29632046;29632711;29769354;30315122;30410026;31553233;31806350;31844290;31849860;32157095;32357974;32488085;32938616;32983136;33633747;33717175;33968037;33981976;34932366;35051231;35580925;36010968;37938771", "class_list": "", "function": "(Microbial infection) Positively regulates the replication of encephalomyocarditis virus (EMCV) via autophagy-dependent pathway., [UniProtKB, PubMed]; Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies TMEM39A as susceptibility, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Polymorphisms of the TMEM39A gene are associated with the susceptibility to Autoimmune Thyroid diseases (AITD), especially for early-onset AITD and Hashimoto thyroiditis with hypothyroidism., [RefSeq, PubMed]; Regulates autophagy by controlling the spatial distribution and levels of the intracellular phosphatidylinositol 4-phosphate (PtdIns(4)P) pools (PubMed:31806350). Modulates (PtdIns(4)P) levels by regulating the ER-to-Golgi trafficking of the phosphatidylinositide phosphatase SACM1L (PubMed:31806350)., [UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DN80;Q53FN4;Q53GI1;Q6PKB5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:1901097 negative regulation of autophagosome maturation;GO:1902902 negative regulation of autophagosome assembly;GO:0006914 autophagy;GO:0045070 positive regulation of viral genome replication", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9NV64-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1G0-1", "uniprot_id": [ { "id": "ZN687_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1G0", "type": "external" } ], "mass": 129529.0, "length": 1237, "protein_name": "Zinc finger protein 687", "gene_name": "ZNF687", "organism": "Human", "refseq_name": "zinc finger protein 687", "refseq_ac": [ { "id": "NP_001291692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291692", "type": "external" } ], "gene_names_uniprotkb": "ZNF687; KIAA1441", "gene_names_refseq": "PDB6; ZNF687", "protein_names_uniprotkb": "Zinc finger protein 687", "protein_names_refseq": "zinc finger protein 687", "tax_id": 9606, "disease": "Paget's disease of bone 6 (Disease Ontology:DOID:0081369)", "pathway": " (hsa:57592); (R-HSA-9940951)", "pathway_count": 2, "publication_count": 84, "publication_id_list": "10.1101/2023.09.13.557529;10204490;10970879;10978333;11237011;15302935;17081983;17322306;17646674;18452278;18669648;18767875;19369195;19413330;19415658;19651622;19664995;19690332;19691289;20068231;20166139;21406692;23186163;24275569;24554700;25150861;25218447;25593309;25755297;25772364;26849110;26992070;27633282;27732854;27846572;27920218;28228285;28649982;28657654;28832583;28904123;29042441;29242379;29557506;30045876;30059200;30134174;30315122;30379171;30620550;31154438;31492838;31746185;31844290;31848261;32106343;32157095;32161166;32387766;32574038;32938616;32938750;32983136;33592498;33912179;33968037;34019948;34509645;34725712;34932366;35051231;35132862;35154160;35254053;35318648;35580925;36008597;36944484;37983718;39534244;40307207;40596516;7969165;9512513", "class_list": "", "function": "FTO-mediated ZNF687 accelerates tumor growth, metastasis, and angiogenesis in colorectal cancer through the Wnt/beta-catenin pathway., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; Oncogenic zinc finger protein ZNF687 accelerates lung adenocarcinoma cell proliferation and tumor progression by activating the PI3K/AKT signaling pathway., [RefSeq, PubMed]; This gene encodes C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]., [RefSeq]; ZNF687 Expression increased in paget disease of bone Affected Individuals., [RefSeq, PubMed]; ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 41, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "D3DV17;Q68DQ8;Q9H937;Q9P2A7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q8N1G0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N841-1", "uniprot_id": [ { "id": "TTLL6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N841", "type": "external" } ], "mass": 101292.0, "length": 891, "protein_name": "Tubulin polyglutamylase TTLL6", "gene_name": "TTLL6", "organism": "Human", "refseq_name": "tubulin polyglutamylase TTLL6 isoform 1", "refseq_ac": [ { "id": "NP_001124390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124390", "type": "external" } ], "gene_names_uniprotkb": "TTLL6; TTL.6", "gene_names_refseq": "TTL.6; TTLL6", "protein_names_uniprotkb": "Tubulin polyglutamylase TTLL6; 6.3.2.-; Protein polyglutamylase TTLL6; Tubulin--tyrosine ligase-like protein 6", "protein_names_refseq": "protein polyglutamylase TTLL6; tubulin polyglutamylase TTLL6 isoform 1; tubulin polyglutamylase TTLL6; tubulin tyrosine ligase-like family member 6; tubulin--tyrosine ligase-like protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:284076); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "11237011;1520276;15890843;16443334;16901895;17244817;17244818;17360631;17499049;18331838;18452278;19524510;19531357;20519502;21074048;22246503;23358242;25103237;25468068;25957412;25959773;29146868;35333353;7452228", "class_list": "", "function": "Polyglutamylase which modifies both tubulin and non-tubulin proteins, generating alpha-linked polyglutamate side chains on the gamma-carboxyl group of specific glutamate residues of target proteins. Preferentially mediates ATP-dependent long polyglutamate chain elongation over the initiation step of the polyglutamylation reaction. Preferentially modifies the alpha-tubulin tail over a beta-tail. Promotes tubulin polyglutamylation which stimulates spastin/SPAST-mediated microtubule severing, thereby regulating microtubule functions. Mediates microtubule polyglutamylation in primary cilia axoneme, which is important for ciliary structural formation and motility. Mediates microtubule polyglutamylation in motile cilia, necessary for the regulation of ciliary coordinated beating. Polyglutamylates non-tubulin protein nucleotidyltransferase CGAS, leading to CGAS DNA-binding inhibition, thereby preventing antiviral defense response., [UniProtKB, UniProtKB]; XBP1 variant 1 promotes mitosis of cancer cells involving upregulation of the polyglutamylase TTLL6., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DZJ5;C9J233;Q24KB1;Q24KB2;Q24KB6;Q24KF3;Q24KJ5;Q24KN7;Q24KS9;Q24KX1;Q24L13;Q24L55;Q24L76;Q658K6;Q8IYW6;Q8NA62", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "6.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.-", "type": "external" }, { "id": "6.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.-.-.-", "type": "external" } ], "go_molecular_function": "GO:0070740 tubulin-glutamic acid ligase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0015631 tubulin binding;GO:0070739 protein-glutamic acid ligase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005874 microtubule;GO:0005929 cilium;GO:0015630 microtubule cytoskeleton;GO:0005930 axoneme", "go_biological_process": "GO:0018095 protein polyglutamylation;GO:0060296 regulation of cilium beat frequency involved in ciliary motility;GO:0001578 microtubule bundle formation", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8N841-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZW5-1", "uniprot_id": [ { "id": "TM6S1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZW5", "type": "external" } ], "mass": 41636.0, "length": 370, "protein_name": "Transmembrane 6 superfamily member 1", "gene_name": "TM6SF1", "organism": "Human", "refseq_name": "transmembrane 6 superfamily member 1 isoform 2", "refseq_ac": [ { "id": "NP_001138375", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138375", "type": "external" } ], "gene_names_uniprotkb": "TM6SF1", "gene_names_refseq": "TM6SF1", "protein_names_uniprotkb": "Transmembrane 6 superfamily member 1", "protein_names_refseq": "transmembrane 6 superfamily member 1 isoform 2", "tax_id": 9606, "disease": "steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:53346)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11124529;11237011;25123395;25566323;25892735;26992070;27846572;27862975;28832583;28834231;28904123;29242379;29557506;29769354;29786170;30192525;31154438;31611695;31848261;32157095;32357974;32502341;32938616;32983136;33912179;34357683;35051231;35580925;37271250;37938771;38718735", "class_list": "", "function": "Data conclude that AKR1B1 and TM6SF1 may serve as candidate methylation biomarkers for early breast cancer detection., [RefSeq, PubMed]; May function as sterol isomerase., [UniProtKB, PubMed]; TM6SF1 suppresses the progression of lung adenocarcinoma and M2 macrophage polarization by inactivating the PI3K/AKT/mtor pathway., [RefSeq, PubMed]; TM6SF2 reduces lipid accumulation in vascular smooth muscle cells by inhibiting LOX-1 and CD36 expression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7T5;H3BU56;Q4U0U5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005765 lysosomal membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9BZW5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUW8-1", "uniprot_id": [ { "id": "TYDP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUW8", "type": "external" } ], "mass": 68420.0, "length": 608, "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "gene_name": "TDP1", "organism": "Human", "refseq_name": "tyrosyl-DNA phosphodiesterase 1 isoform a", "refseq_ac": [ { "id": "NP_001008744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008744", "type": "external" } ], "gene_names_uniprotkb": "TDP1", "gene_names_refseq": "TDP1", "protein_names_uniprotkb": "Tyrosyl-DNA phosphodiesterase 1; 3.1.4.-; Tyr-DNA phosphodiesterase 1", "protein_names_refseq": "tyr-DNA phosphodiesterase 1; tyrosyl-DNA phosphodiesterase 1 isoform a", "tax_id": 9606, "disease": "spinocerebellar ataxia with axonal neuropathy 1 (Disease Ontology:DOID:0090115)", "pathway": " (hsa:55775); (R-HSA-5693571)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10521354;10572166;10757784;11237011;11493912;11572945;11604075;11702069;11839309;11955432;12023295;12077346;12186630;12231622;12244316;12470949;12509254;12618186;12897153;12947387;14561766;14761185;15111055;15177042;15451442;15468306;15574327;15647511;15723659;15811850;15920477;16061182;16093244;16141202;16439204;16439205;16600297;16874298;16914548;17081983;17290226;17470781;17948061;18046455;18077418;18397950;18452278;18669648;19505854;19690332;19851285;20068231;22179609;22529269;22822062;23186163;23306437;23333306;23505375;23727112;24236237;24637157;24715725;25512557;25818648;25841101;26992070;27846572;28904123;29078113;29242379;29437277;29493099;30379171;30410026;31217245;31844290;32157095;32387766;32938616;33141586;33298915;33633747;33968037;34171305;34356597;34974222;35051231;35349719;35580925;38761375;39302247;40596516;8422676;9259561;9430729;9512523;9826654", "class_list": "", "function": "1.69 A crystal structure of human tyrosyl-DNA phosphodiesterase, [RefSeq, PubMed]; A role for hTdp1 in repair of free radical-mediated DNA double strand breaks bearing terminally blocked 3' overhangs., [RefSeq, PubMed]; DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 3'-phosphodiester bond, giving rise to DNA with a free 3' phosphate. Catalyzes the hydrolysis of dead-end complexes between DNA and the topoisomerase I active site tyrosine residue. Hydrolyzes 3'-phosphoglycolates on protruding 3' ends on DNA double-strand breaks due to DNA damage by radiation and free radicals. Acts on blunt-ended double-strand DNA breaks and on single-stranded DNA. Has low 3'exonuclease activity and can remove a single nucleoside from the 3'end of DNA and RNA molecules with 3'hydroxyl groups. Has no exonuclease activity towards DNA or RNA with a 3'phosphate., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Human TDP1, APE1 and TREX1 repair 3'-DNA-peptide/protein cross-links arising from abasic sites in vitro., [RefSeq, PubMed]; New Hybrid Compounds Combining Fragments of Usnic Acid and Monoterpenoids for Effective Tyrosyl-DNA Phosphodiesterase 1 Inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; Protein assay of expressed FLJ11090 shows that it encodes human tyrosyl-DNA phodphodiesterase (TDP1)., [RefSeq, PubMed]; Sequences nearly identical to FLJ11090 are highly homologous to the yeast TDP1 gene. Tdp1 protein cleaves the linkage between a phosphotyrosyl group and the 3'-end of DNA, and has been shown to be involved in the repair of TOP1-induced DNA damage., [RefSeq, PubMed]; TDP1 and TOP1 as targets in anticancer treatment of NSCLC: Activity and protein level in normal and tumor tissue from 150 NSCLC patients correlated to clinical data., [RefSeq, PubMed]; TDP1 mutation causing SCAN1 neurodegenerative syndrome hampers the repair of transcriptional DNA double-strand breaks., [RefSeq, PubMed]; The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q2HXX4;Q86TV8;Q96BK7;Q9NZM7;Q9NZM8", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" } ], "go_molecular_function": "GO:0003690 double-stranded DNA binding;GO:0004527 exonuclease activity;GO:0003697 single-stranded DNA binding;GO:0017005 3'-tyrosyl-DNA phosphodiesterase activity;GO:0008081 phosphoric diester hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0090734 site of DNA damage", "go_biological_process": "GO:0006281 DNA repair;GO:0006302 double-strand break repair;GO:0000012 single strand break repair;GO:0006282 regulation of DNA repair", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q9NUW8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H892-1", "uniprot_id": [ { "id": "TTC12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H892", "type": "external" } ], "mass": 78756.0, "length": 705, "protein_name": "Tetratricopeptide repeat protein 12", "gene_name": "TTC12", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 12 isoform 1", "refseq_ac": [ { "id": "NP_001305462", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305462", "type": "external" } ], "gene_names_uniprotkb": "TTC12", "gene_names_refseq": "CILD45; TPARM; TTC12", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 12; TPR repeat protein 12", "protein_names_refseq": "TPR repeat protein 12; tetratricopeptide repeat and armadillo repeat protein; tetratricopeptide repeat protein 12 isoform 1; tetratricopeptide repeat protein 12", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); primary ciliary dyskinesia 45 (Disease Ontology:DOID:0111857); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); drug dependence (Disease Ontology:DOID:9974); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:54970)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;17085484;17657212;17761687;23481700;25418920;25645385;25892735;26811146;27846572;28063628;28228285;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29786170;30315122;30429286;31217245;31844290;31978331;32157095;32357974;32387766;32488085;32938616;32983136;33298915;33592498;33968037;34171305;34211107;34285142;34509645;35051231;35580925;36010968;36241641;36273201", "class_list": "", "function": "An association study in the Taiwan Biobank elicits three novel candidates for cognitive aging in old adults: NCAM1, TTC12 and ZBTB20., [RefSeq, PubMed]; Association studies of alcohol dependence and 43 SNPs mapped to the gene cluster of NCAM1, TTC12, ANKK1 and DRD2 GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes. Publication Status: Online-Only, [RefSeq, PubMed]; Cytoplasmic protein that plays a role in the proper assembly of dynein arm complexes in motile cilia in both respiratory cells and sperm flagella., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella., [RefSeq, PubMed]; The TTC12 gene is hypermethylated in acute lymphoblastic leukemia, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N5H9;Q9NWY3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0007288 sperm axoneme assembly;GO:0070286 axonemal dynein complex assembly;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9H892-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DC7-1", "uniprot_id": [ { "id": "TMCO6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DC7", "type": "external" } ], "mass": 54442.0, "length": 493, "protein_name": "Transmembrane and coiled-coil domain-containing protein 6", "gene_name": "TMCO6", "organism": "Human", "refseq_name": "transmembrane and coiled-coil domain-containing protein 6 isoform 1", "refseq_ac": [ { "id": "NP_001287909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287909", "type": "external" } ], "gene_names_uniprotkb": "TMCO6; PRO1580", "gene_names_refseq": "PRO1580; TMCO6", "protein_names_uniprotkb": "Transmembrane and coiled-coil domain-containing protein 6", "protein_names_refseq": "transmembrane and coiled-coil domain-containing protein 6 isoform 1; transmembrane and coiled-coil domain-containing protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:55374)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;19423540;19729601;20406964;20438785;23481700;24715725;25418920;25576301;26992070;27846572;27920218;28228285;28832583;28834231;29242379;29393594;29557506;29632711;30315122;30524438;31844290;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33717175;33912179;33936100;33968037;34211107;34357683;34509645;35051231;35580925;36010968;36241641;40307207", "class_list": "", "function": "Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9BUU0;Q9P198", "ec_number_list": [], "go_molecular_function": "GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q96DC7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P3X3-1", "uniprot_id": [ { "id": "TTC27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P3X3", "type": "external" } ], "mass": 96632.0, "length": 843, "protein_name": "Tetratricopeptide repeat protein 27", "gene_name": "TTC27", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 27 isoform 2", "refseq_ac": [ { "id": "NP_001180438", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180438", "type": "external" } ], "gene_names_uniprotkb": "TTC27", "gene_names_refseq": "EMW1; TRD1; TTC27", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 27; TPR repeat protein 27", "protein_names_refseq": "TPR repeat protein 27; tetratricopeptide repeat protein 27 isoform 2; tetratricopeptide repeat protein 27", "tax_id": 9606, "disease": "", "pathway": " (hsa:55622)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;23301498;24616531;24715725;25418920;25576301;25645385;26154972;26375851;26811146;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29557506;29632046;29786170;30315122;30410026;30429286;30484775;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33537174;33592498;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34509645;34561969;35051231;35154160;35580925;36010968;36215666;36241641;36284347;37938771;39531497", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NKJ0;Q96SS5;Q9BVF1;Q9NWR4;Q9NXG4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q6P3X3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z4G4-1", "uniprot_id": [ { "id": "TRM11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z4G4", "type": "external" } ], "mass": 53421.0, "length": 463, "protein_name": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11", "gene_name": "TRMT11", "organism": "Human", "refseq_name": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11 isoform a", "refseq_ac": [ { "id": "NP_001026882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026882", "type": "external" } ], "gene_names_uniprotkb": "TRMT11; C6orf75; MDS024", "gene_names_refseq": "C6orf75; MDS024; TRM11; TRMT11-1; TRMT11", "protein_names_uniprotkb": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11; 2.1.1.214; tRNA methyltransferase 11 homolog", "protein_names_refseq": "tRNA (guanine(10)-N(2))-methyltransferase TRMT11 isoform a; tRNA (guanine(10)-N(2))-methyltransferase TRMT11; tRNA (guanine(10)-N(2))-methyltransferase homolog; tRNA (guanine(10)-N2)-methyltransferase homolog; tRNA guanosine-2'-O-methyltransferase TRM11 homolog; tRNA methyltransferase 11 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:60487); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15592455;15861136;15870694;15994936;16043508;16424344;17071714;17322306;18567810;19017811;19414587;20123966;20308323;20354154;20584901;21059936;21131277;22223895;22344696;22386179;22591353;22645359;22995836;23042678;23048041;23381944;23481700;23604283;24126054;24204302;24901367;25261850;25404562;25418920;25576301;25892735;25916855;26160102;26310293;26375851;26992070;27055666;27397612;27846572;28218747;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30315122;30410026;30429286;31092671;31217245;31481669;31844290;31998317;32157095;32161166;32357974;32387766;32983136;33141586;33298915;33392160;33592498;33633747;33912179;34171305;34357683;34932366;34948388;35051231;35561310;35580925;36010968;36581221;36610787;37283053;9430663;9851972", "class_list": "", "function": "Catalytic subunit of the TRMT11-TRM112 methyltransferase complex, that specifically mediates the S-adenosyl-L-methionine-dependent N(2)-methylation of guanosine nucleotide at position 10 (m2G10) in tRNAs (PubMed:37283053). This is one of the major tRNA (guanine-N(2))-methyltransferases (PubMed:37283053)., [UniProtKB, PubMed]; SNPs associated with androgen deprivation failure in advanced prostate cancer, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1P570;Q5JY11;Q6PGQ5;Q9HC13", "ec_number_list": [ { "id": "2.1.1.214", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.214", "type": "external" } ], "go_molecular_function": "GO:0000049 tRNA binding;GO:0008168 methyltransferase activity;GO:0160102 tRNA (guanine(10)-N2)-methyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0043528 tRNA (m2G10) methyltransferase complex", "go_biological_process": "GO:0008033 tRNA processing;GO:0001510 RNA methylation;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q7Z4G4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ICL3-1", "uniprot_id": [ { "id": "TNG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ICL3", "type": "external" } ], "mass": 30937.0, "length": 276, "protein_name": "Transport and Golgi organization protein 2 homolog", "gene_name": "TANGO2", "organism": "Human", "refseq_name": "transport and Golgi organization protein 2 homolog isoform a", "refseq_ac": [ { "id": "NP_001270035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001270035", "type": "external" } ], "gene_names_uniprotkb": "TANGO2; C22orf25", "gene_names_refseq": "C22orf25; MECRCN; TANGO2", "protein_names_uniprotkb": "Transport and Golgi organization protein 2 homolog", "protein_names_refseq": "transport and Golgi organization protein 2 homolog isoform a; transport and Golgi organization protein 2 homolog", "tax_id": 9606, "disease": "TANGO2-related metabolic encephalopathy and arrythmias (Disease Ontology:DOID:0081386)", "pathway": " (hsa:128989)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;18477386;25576301;25892735;26805781;26805782;26992070;28904123;29437277;30245509;30315122;30410026;30429286;31154438;31222486;31276219;31339582;31844290;31848261;32157095;32387766;32502341;32909282;32929747;32938616;32983136;33342685;33592498;33981976;34509645;34932366;35051231;35197517;35580925;35705054;36010968;36241641;36961129;37721116;38718569", "class_list": "", "function": "Exons 3-9 heterozygous deletion in TANGO2 are recurrent pathogenic alleles present in the Latino/Hispanic and European populations, respectively, causing considerable morbidity in the homozygotes in these populations., [RefSeq, PubMed]; Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency disease., [RefSeq, PubMed]; May be involved in lipid homeostasis., [UniProtKB, PubMed]; Mitochondrial dysfunction associated with TANGO2 deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular insight into CREBBP and TANGO2 variants causing intellectual disability., [RefSeq, PubMed]; This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum. Depletion of this gene in Drosophila S2 cells causes fusion of the Golgi with the ER. In mouse tissue culture cells, this protein co-localizes with a mitochondrially targeted mCherry protein and displays very low levels of co-localization with Golgi and peroxisomes. Allelic variants of this gene are associated with rhabdomyolysis, metabolic crises with encephalopathy, and cardiac arrhythmia. [provided by RefSeq, Apr 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MUE9;B7WNV6;B7Z583;B7Z730;D3DX23;Q8IW05;Q8NAL0;Q8TCS0;Q96M16", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0009306 protein secretion;GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q6ICL3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12999-1", "uniprot_id": [ { "id": "TSN31_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12999", "type": "external" } ], "mass": 23053.0, "length": 210, "protein_name": "Tetraspanin-31", "gene_name": "TSPAN31", "organism": "Human", "refseq_name": "tetraspanin-31 isoform 2", "refseq_ac": [ { "id": "NP_001317097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317097", "type": "external" } ], "gene_names_uniprotkb": "TSPAN31; SAS", "gene_names_refseq": "SAS; TSPAN31", "protein_names_uniprotkb": "Tetraspanin-31; Sarcoma-amplified sequence; Tspan-31", "protein_names_refseq": "sarcoma-amplified sequence; tetraspanin-31 isoform 2; transmembrane 4 protein; tspan-31", "tax_id": 9606, "disease": "", "pathway": " (hsa:6302)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;20237496;20628086;25502872;26992070;28218747;28832583;28834231;29242379;29437277;29493099;29632711;31222486;32207169;32350084;33592498;33633747;33912179;33968037;34087483;34357683;35154160;35307915;8134123;9192850", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Overexpression of Tetraspanin31 contributes to malignant potential and poor outcomes in gastric cancer., [RefSeq, PubMed]; TSPAN31 suppresses cell proliferation in human cervical cancer through down-regulation of its antisense pairing with CDK4., [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O00577;Q53X76", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q12999-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B3SHH9-1", "uniprot_id": [ { "id": "TM114_HUMAN", "url": "https://www.uniprot.org/uniprot/B3SHH9", "type": "external" } ], "mass": 24166.0, "length": 223, "protein_name": "Transmembrane protein 114", "gene_name": "TMEM114", "organism": "Human", "refseq_name": "transmembrane protein 114 isoform a", "refseq_ac": [ { "id": "NP_001139808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139808", "type": "external" } ], "gene_names_uniprotkb": "TMEM114", "gene_names_refseq": "TMEM114", "protein_names_uniprotkb": "Transmembrane protein 114; Claudin-26", "protein_names_refseq": "claudin-26; transmembrane protein 114 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:283953)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12107413;17492639;21276448;21689651;24715725;28904123;29557506;33968037;35051231", "class_list": "", "function": "Data demonstrate that TMEM114, and the closely related TMEM235, are closely related to members of the voltage dependent calcium channel gamma subunit family., [RefSeq, PubMed]; TMEM114 has a role in mammalian cataract formation, [RefSeq, PubMed]; This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005923 bicellular tight junction;GO:0016324 apical plasma membrane;GO:0016328 lateral plasma membrane;GO:0016327 apicolateral plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "B3SHH9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUH8-1", "uniprot_id": [ { "id": "TM14B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUH8", "type": "external" } ], "mass": 12078.0, "length": 114, "protein_name": "Transmembrane protein 14B", "gene_name": "TMEM14B", "organism": "Human", "refseq_name": "transmembrane protein 14B isoform b", "refseq_ac": [ { "id": "NP_001121183", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121183", "type": "external" } ], "gene_names_uniprotkb": "TMEM14B", "gene_names_refseq": "TMEM14B", "protein_names_uniprotkb": "Transmembrane protein 14B", "protein_names_refseq": "transmembrane protein 14B isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:81853)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;25892735;26992070;27862975;28228285;29033352;29242379;29557506;29769354;30315122;31217245;31844290;32157095;32357974;32488085;32502341;32897882;32938616;33912179;33936100;33968037;34357683;35318648;36010968;36241641", "class_list": "", "function": "Primate-specific protein involved in cortical expansion and folding in the developing neocortex. May drive neural progenitor proliferation through nuclear translocation of IQGAP1, which in turn promotes G1/S cell cycle transitions., [UniProtKB, PubMed]; TMEM14B drives NP proliferation by increasing the phosphorylation and nuclear translocation of IQGAP1, which in turn promotes G1/S cell cycle transitions., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5THN7;Q5THN8;Q96IX7;Q9BVN8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0031966 mitochondrial membrane;GO:0016020 membrane", "go_biological_process": "GO:0021987 cerebral cortex development;GO:0006783 heme biosynthetic process;GO:0061351 neural precursor cell proliferation;GO:2000045 regulation of G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9NUH8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07477-1", "uniprot_id": [ { "id": "TRY1_HUMAN", "url": "https://www.uniprot.org/uniprot/P07477", "type": "external" } ], "mass": 26558.0, "length": 247, "protein_name": "Serine protease 1", "gene_name": "PRSS1", "organism": "Human", "refseq_name": "serine protease 1 preproprotein", "refseq_ac": [ { "id": "NP_002760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002760", "type": "external" } ], "gene_names_uniprotkb": "PRSS1; TRP1; TRY1; TRYP1", "gene_names_refseq": "PRSS1; TRP1; TRY1; TRY4; TRYP1", "protein_names_uniprotkb": "Serine protease 1; 3.4.21.4; Anionic trypsin I; Anionic trypsin-I; Beta-trypsin; Cationic trypsinogen; Pretrypsinogen I; Trypsin I; Trypsin-1", "protein_names_refseq": "TCR V beta 4.1; anionic trypsin I; beta-trypsin; cationic trypsinogen; digestive zymogen; nonfunctional trypsin 1; pretrypsinogen I; protease, serine 1; serine protease 1 preproprotein; trypsinogen 1; trypsinogen A", "tax_id": 9606, "disease": "cystic fibrosis (Disease Ontology:DOID:1485); pancreatitis (Disease Ontology:DOID:4989); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:5644); (R-HSA-1592389); (R-HSA-9758881); (R-HSA-9925561)", "pathway_count": 4, "publication_count": 91, "publication_id_list": "10080186;10204851;10381903;10887099;10930381;11057674;11073545;11237011;11788572;11830519;11866271;12590260;1311314;1371271;1390635;14576052;14695529;1480033;15776435;16791840;16959974;17087724;1783204;17954916;17990953;19136951;20237569;2159879;2169257;2176865;22547309;22631584;2269296;22900303;22922874;2383557;25010489;2546891;2551898;2557753;2598466;27456980;29557506;29789417;3011602;30523278;3058116;30777892;31844290;33845046;34019948;34105348;34725712;35051231;35083852;35089416;35289036;36191639;36369231;36883543;38665916;4001945;4216367;6263256;7669817;7746327;7780967;7826345;7890645;7896811;7945238;7981201;8015608;8194591;8314771;8530478;8576151;8621565;8645182;8650574;8663255;8683601;8804434;8841182;9261109;9322498;9346290;9422744;9578462;9632662;9633818", "class_list": "", "function": "A rare PRSS1 p.S127C mutation is associated with chronic pancreatitis and causes misfolding-induced ER-stress., [RefSeq, PubMed]; Has activity against the synthetic substrates Boc-Phe-Ser-Arg-Mec, Boc-Leu-Thr-Arg-Mec, Boc-Gln-Ala-Arg-Mec and Boc-Val-Pro-Arg-Mec. The single-chain form is more active than the two-chain form against all of these substrates., [UniProtKB, PubMed]; Pancreatitis-Associated PRSS1-PRSS2 Haplotype Alters T-Cell Receptor Beta (TRB) Repertoire More Strongly Than PRSS1 Expression., [RefSeq, PubMed]; This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]., [RefSeq]; Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis., [RefSeq, PubMed]; [Influence of environmental factors and polymorphic loci rs6580502 of the SPINK1 gene, rs10273639 of the PRSS1 gene, rs213950 of the CFTR gene on the risk of developing acute alcoholic-alimentary pancreatitis]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1A509;A6NJ71;B2R5I5;Q5NV57;Q7M4N3;Q7M4N4;Q92955;Q9HAN4;Q9HAN5;Q9HAN6;Q9HAN7", "ec_number_list": [ { "id": "3.4.21.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.34", "type": "external" }, { "id": "3.4.24.7", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.7", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.1", "type": "external" }, { "id": "3.4.21.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.35", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.21.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.71", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.24.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.17", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "3.4.21.70", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.70", "type": "external" }, { "id": "3.4.24.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.23", "type": "external" }, { "id": "3.4.24.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.22", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.4.17.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.1", "type": "external" }, { "id": "3.4.17.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.2", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.4.21.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.1", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.4.21.39", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.39", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.17.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.15", "type": "external" }, { "id": "3.1.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.26", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "2.1.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.20", "type": "external" }, { "id": "3.4.21.59", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.59", "type": "external" }, { "id": "3.4.21.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.2", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0072562 blood microparticle", "go_biological_process": "GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0007586 digestion", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P07477-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QS1-1", "uniprot_id": [ { "id": "TSN32_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QS1", "type": "external" } ], "mass": 34631.0, "length": 320, "protein_name": "Tetraspanin-32", "gene_name": "TSPAN32", "organism": "Human", "refseq_name": "tetraspanin-32", "refseq_ac": [ { "id": "NP_620591", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620591", "type": "external" } ], "gene_names_uniprotkb": "TSPAN32; PHEMX; TSSC6", "gene_names_refseq": "PHEMX; PHMX; TSPAN32; TSSC6", "protein_names_uniprotkb": "Tetraspanin-32; Protein Phemx; Tspan-32", "protein_names_refseq": "pan-hematopoietic expression protein; protein Phemx; tetraspanin-32; tumor-suppressing STF cDNA 6; tumor-suppressing subchromosomal transferable fragment cDNA 6; tumor-suppressing subtransferable candidate 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:10077)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10072438;10950922;11237011;11718897;14759258;20709950;28832583;29557506;29769354;31487788;31844290;33091337;34207245", "class_list": "", "function": "Altered Expression of TSPAN32 during B Cell Activation and Systemic Lupus Erythematosus. Publication Status: Online-Only, [RefSeq, PubMed]; In the absence of both CD37 and Tssc6, immune function is further altered when compared with CD37- or Tssc6-deficient transgenic mice, demonstrating a complementary role for these two molecules in cellular immunity., [RefSeq, PubMed]; TSPAN32 mRNA level is significantly reduced in CD4 T cells of multiple sclerosis patients. Publication Status: Online-Only, [RefSeq, PubMed]; This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96KX4;Q9HC50;Q9HC51;Q9Y5U1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0070442 integrin alphaIIb-beta3 complex;GO:0016020 membrane", "go_biological_process": "GO:0007267 cell-cell signaling;GO:1900746 regulation of vascular endothelial growth factor signaling pathway;GO:0007154 cell communication;GO:0023052 signaling", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q96QS1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4V9L6-1", "uniprot_id": [ { "id": "TM119_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4V9L6", "type": "external" } ], "mass": 29203.0, "length": 283, "protein_name": "Transmembrane protein 119", "gene_name": "TMEM119", "organism": "Human", "refseq_name": "transmembrane protein 119 precursor", "refseq_ac": [ { "id": "NP_859075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_859075", "type": "external" } ], "gene_names_uniprotkb": "TMEM119; PRO1415; PSEC0199", "gene_names_refseq": "OBIF; TMEM119", "protein_names_uniprotkb": "Transmembrane protein 119; OBIF; Osteoblast induction factor", "protein_names_refseq": "osteoblast induction factor; transmembrane protein 119 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:338773)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;12975309;16303743;20025746;24275569;25502872;25576301;26250788;27846572;28228285;29508533;29557506;29786170;30315122;30429286;31154438;31217245;31829283;31844290;31848261;32157095;32357974;32488085;32719959;33592498;33731124;34334123;34433824;35051231;36010968;36284347;37453717;38474068", "class_list": "", "function": "Plays an important role in bone formation and normal bone mineralization. Promotes the differentiation of myoblasts into osteoblasts (PubMed:20025746). May induce the commitment and differentiation of myoblasts into osteoblasts through an enhancement of BMP2 production and interaction with the BMP-RUNX2 pathway. Up-regulates the expression of ATF4, a transcription factor which plays a central role in osteoblast differentiation. Essential for normal spermatogenesis and late testicular differentiation (By similarity)., [UniProtKB, UniProtKB, PubMed]; Regulation of microglial TMEM119 and P2RY12 immunoreactivity in multiple sclerosis white and grey matter lesions is dependent on their inflammatory environment. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM119 (c.G143A, p.S48L) Mutation Is Involved in Primary Failure of Eruption by Attenuating Glycolysis-Mediated Osteogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM119 as a specific marker of microglia reaction in traumatic brain injury in postmortem examination., [RefSeq, PubMed]; TMEM119 facilitates ovarian cancer cell proliferation, invasion, and migration via the PDGFRB/PI3K/AKT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Transmembrane protein TMEM119 facilitates the stemness of breast cancer cells by activating Wnt/beta-catenin pathway., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6UXE5;Q8N2F5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:1903012 positive regulation of bone development;GO:0007283 spermatogenesis;GO:0010628 positive regulation of gene expression;GO:0030509 BMP signaling pathway;GO:0033690 positive regulation of osteoblast proliferation", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q4V9L6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86TZ1-1", "uniprot_id": [ { "id": "TTC6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86TZ1", "type": "external" } ], "mass": 59379.0, "length": 520, "protein_name": "Tetratricopeptide repeat protein 6", "gene_name": "TTC6", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 6 isoform 2", "refseq_ac": [ { "id": "NP_001355071", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001355071", "type": "external" } ], "gene_names_uniprotkb": "TTC6; C14orf25; NCRNA00291", "gene_names_refseq": "C14orf25; NCRNA00291; TTC6", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 6; TPR repeat protein 6", "protein_names_refseq": "TPR repeat protein 6; tetratricopeptide repeat protein 6 isoform 2; tetratricopeptide repeat protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:319089)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;19692168;30620550;36215666", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q3SY88;Q96CE6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q86TZ1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q49AM3-1", "uniprot_id": [ { "id": "TTC31_HUMAN", "url": "https://www.uniprot.org/uniprot/Q49AM3", "type": "external" } ], "mass": 57105.0, "length": 519, "protein_name": "Tetratricopeptide repeat protein 31", "gene_name": "TTC31", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 31 isoform a", "refseq_ac": [ { "id": "NP_071937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071937", "type": "external" } ], "gene_names_uniprotkb": "TTC31", "gene_names_refseq": "TTC31", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 31; TPR repeat protein 31", "protein_names_refseq": "TPR repeat protein 31; tetratricopeptide repeat protein 31 isoform a; tetratricopeptide repeat protein 31", "tax_id": 9606, "disease": "", "pathway": " (hsa:64427)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;21790010;23186163;25576301;25645385;26992070;27920218;28218747;28228285;28832583;28904123;29242379;29437277;30315122;30429286;31844290;31848261;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33717175;33912179;33968037;34185709;34405274;35051231", "class_list": "", "function": "A fragment of the CCDC142-TTC31 intergenic region was cloned; this fragment functions as bidirectional promoter., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4KN40;Q53FD4;Q9H9F7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q49AM3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDW8-1", "uniprot_id": [ { "id": "TT21A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDW8", "type": "external" } ], "mass": 150944.0, "length": 1320, "protein_name": "Tetratricopeptide repeat protein 21A", "gene_name": "TTC21A", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 21A isoform 1", "refseq_ac": [ { "id": "NP_001098983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098983", "type": "external" } ], "gene_names_uniprotkb": "TTC21A; STI2", "gene_names_refseq": "IFT139A; SPGF37; STI2; TTC21A; Thm2", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 21A; Stress-inducible protein 2; TPR repeat protein 21A", "protein_names_refseq": "TPR domain containing STI2; TPR repeat protein 21A; stress-inducible protein 2; testicular tissue protein Li 212; tetratricopeptide repeat protein 21A isoform 1; tetratricopeptide repeat protein 21A", "tax_id": 9606, "disease": "spermatogenic failure 37 (Disease Ontology:DOID:0111927); nephronophthisis (Disease Ontology:DOID:12712)", "pathway": " (hsa:199223)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;12543795;25576301;26992070;28904123;29557506;30929735;31217245;31812070;31844290;32157095;32488085;32938616;33392160;33912179;34087483;35051231;35920310;36010968;36240223;38151293;39894887", "class_list": "", "function": "Bi-allelic mutations in TTC21A can induce asthenoteratospermia with defects of the sperm flagella and head-tail conjunction, [RefSeq, PubMed]; Identification of TTC21A as a Potential Prognostic Marker in Head and Neck Squamous Cell Carcinoma: In Silico Analysis., [RefSeq, PubMed]; Increased TTC21A expression in lung adenocarcinoma tissues is significantly correlated with pathological stage, tumor status and lymph nodes. Up-regulated TTC21A expression, negative results of pathological stage and distant metastasis are independent prognostic factors for good prognosis., [RefSeq, PubMed]; Intraflagellar transport (IFT)-associated protein required for spermatogenesis (PubMed:30929735). Required for sperm flagellar formation and intraflagellar transport (PubMed:30929735)., [UniProtKB, PubMed]; Novel mutation in TTC21A triggers partial nonsense-mediated mRNA decay and causes male infertility with MMAF., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A1L388;B4DYF6;B4DYJ3;D3YTE7;D4PHA5;Q6P5W8;Q8N7G5;Q8NA02", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0030991 intraciliary transport particle A", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0007286 spermatid development;GO:0061512 protein localization to cilium;GO:0035721 intraciliary retrograde transport", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8NDW8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBP0-1", "uniprot_id": [ { "id": "TTC13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBP0", "type": "external" } ], "mass": 96813.0, "length": 860, "protein_name": "Tetratricopeptide repeat protein 13", "gene_name": "TTC13", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 13 isoform b precursor", "refseq_ac": [ { "id": "NP_001116307", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116307", "type": "external" } ], "gene_names_uniprotkb": "TTC13; PSEC0076", "gene_names_refseq": "TTC13", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 13; TPR repeat protein 13", "protein_names_refseq": "TPR repeat protein 13; epididymis secretory sperm binding protein; tetratricopeptide repeat protein 13 isoform b precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:79573)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "11237011;16303743;20058876;24366607;24397554;24715725;25576301;25880248;25892735;26154972;26375851;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30192525;30315122;30429286;30779550;31217245;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34357683;34509645;34561969;34932366;35051231;35251023;35318648;35494241;35580925;36284347;37927783;37938771", "class_list": "", "function": "TTC13 expression and STAT3 activation may form a positive feedback loop to promote ccRCC progression. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AQI1;B1AQI2;Q8IVP8;Q8NBI0;Q8ND20", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q8NBP0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJT2-1", "uniprot_id": [ { "id": "TSKS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJT2", "type": "external" } ], "mass": 65050.0, "length": 592, "protein_name": "Testis-specific serine kinase substrate", "gene_name": "TSKS", "organism": "Human", "refseq_name": "testis-specific serine kinase substrate", "refseq_ac": [ { "id": "NP_068379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068379", "type": "external" } ], "gene_names_uniprotkb": "TSKS; STK22S1; TSKS1", "gene_names_refseq": "PPP1R161; STK22S1; TSKS1; TSKS; TSSKS", "protein_names_uniprotkb": "Testis-specific serine kinase substrate; STK22 substrate 1; Testis-specific kinase substrate", "protein_names_refseq": "STK22 substrate 1; protein phosphatase 1, regulatory subunit 161; testis specific serine/threonine kinase substrate; testis-specific kinase substrate; testis-specific serine kinase substrate", "tax_id": 9606, "disease": "", "pathway": " (hsa:60385)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;11444856;15044604;16959974;18495105;25892735;26777341;28832583;28834231;28904123;29557506;30315122;31530632;34087483;35051231;35561310;35580925", "class_list": "", "function": "May play a role in testicular physiology, most probably in the process of spermatogenesis or spermatid development., [UniProtKB]; N vitro phosphorylation experiments carried out with TSKS (isoform 1) fragments revealed particularly strong phosphorylation of a recombinant N-terminal region representing aa 1-150 of TSKS, indicating that the N-terminus of human TSKS is phosphorylated by human TSSK2., [RefSeq, PubMed]; This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS viral oncogene homolog (RRAS) and interferon regulatory factor 3 (IRF3) genes, which are both involved in tumorigenesis pathways and progression. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8WXJ0", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005814 centriole", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9UJT2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AE7-1", "uniprot_id": [ { "id": "TTC17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AE7", "type": "external" } ], "mass": 129558.0, "length": 1141, "protein_name": "Tetratricopeptide repeat protein 17", "gene_name": "TTC17", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 17 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001294872", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294872", "type": "external" } ], "gene_names_uniprotkb": "TTC17", "gene_names_refseq": "TTC17", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 17; TPR repeat protein 17", "protein_names_refseq": "TPR repeat protein 17; tetratricopeptide repeat protein 17 isoform 2 precursor; tetratricopeptide repeat protein 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:55761)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;23481700;24190977;24475127;24715725;25418920;25576301;25645385;25813380;25880248;26375851;26992070;27600516;27862975;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29741879;29786170;30315122;30429286;30524438;31217245;31488582;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34846842;35051231;35251023;35254053;35289036;35318648;35561310;35580925;36010968;36241641;36284347;37074911;37949225;38665916", "class_list": "", "function": "Plays a role in primary ciliogenesis by modulating actin polymerization., [UniProtKB, PubMed, UniProtKB, UniProtKB]; TTC17 is an endoplasmic reticulum resident TPR-containing adaptor protein., [RefSeq, PubMed]; TTC17 is localized along the secretory pathway and was found to interact with resident proteins of ER-Golgi membranes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "G3XAB3;Q8NEC0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton;GO:0034044 exomer complex;GO:0005856 cytoskeleton", "go_biological_process": "GO:0030041 actin filament polymerization;GO:0044782 cilium organization;GO:0006893 Golgi to plasma membrane transport;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q96AE7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NFC5-1", "uniprot_id": [ { "id": "TM235_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NFC5", "type": "external" } ], "mass": 23360.0, "length": 223, "protein_name": "Transmembrane protein 235", "gene_name": "TMEM235", "organism": "Human", "refseq_name": "transmembrane protein 235 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001191139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191139", "type": "external" } ], "gene_names_uniprotkb": "TMEM235", "gene_names_refseq": "ARGM1; TMEM235", "protein_names_uniprotkb": "Transmembrane protein 235; Claudin-27", "protein_names_refseq": "claudin-27; transmembrane protein 235 isoform 1 precursor; transmembrane protein ENSP00000364084", "tax_id": 9606, "disease": "", "pathway": " (hsa:283999)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;21276448;21689651;29557506;29789417;33392160", "class_list": "", "function": "Data demonstrate that TMEM114, and the closely related TMEM235, are closely related to members of the voltage dependent calcium channel gamma subunit family., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "C9JRE6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016324 apical plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A6NFC5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60784-1", "uniprot_id": [ { "id": "TOM1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60784", "type": "external" } ], "mass": 53818.0, "length": 492, "protein_name": "Target of Myb1 membrane trafficking protein", "gene_name": "TOM1", "organism": "Human", "refseq_name": "target of Myb1 membrane trafficking protein isoform 3", "refseq_ac": [ { "id": "NP_001129201", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129201", "type": "external" } ], "gene_names_uniprotkb": "TOM1", "gene_names_refseq": "IMD85; TOM1", "protein_names_uniprotkb": "Target of Myb1 membrane trafficking protein; Target of Myb protein 1", "protein_names_refseq": "target of Myb protein 1; target of Myb1 membrane trafficking protein isoform 3; target of myb 1", "tax_id": 9606, "disease": "immunodeficiency 85 (Disease Ontology:DOID:0061055)", "pathway": " (hsa:10043); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10329004;10985773;11237011;14563850;14613930;15047686;15657082;16199040;17081983;17322306;17924679;18212344;18292551;18477386;18669648;19415658;19651622;19664994;19690332;20058876;20068231;21406692;22223895;23023224;23186163;23481700;23650620;24275569;24715725;25502872;25576301;25588840;26320582;26977434;26992070;28218747;28832583;28904123;29242379;29314611;29437277;29557506;29632711;29786170;31217245;31263572;31371777;31844290;32157095;32350084;32387766;32938616;32983136;33141586;33298915;33592498;33936100;33968037;34171305;34357683;34433824;35051231;35154160;35580925;36215666;39894887;8692836", "class_list": "", "function": "A Tom1-Tollip complex functions as a factor that links polyubiquitinated proteins to clathrin, [RefSeq, PubMed]; Adapter protein that plays a role in the intracellular membrane trafficking of ubiquitinated proteins, thereby participating in autophagy, ubiquitination-dependent signaling and receptor recycling pathways (PubMed:14563850, PubMed:15047686, PubMed:23023224, PubMed:25588840, PubMed:26320582, PubMed:31371777). Acts as a MYO6/Myosin VI adapter protein that targets MYO6 to endocytic structures (PubMed:23023224). Together with MYO6, required for autophagosomal delivery of endocytic cargo, the maturation of autophagosomes and their fusion with lysosomes (PubMed:23023224). MYO6 links TOM1 with autophagy receptors, such as TAX1BP1; CALCOCO2/NDP52 and OPTN (PubMed:31371777). Binds to polyubiquitinated proteins via its GAT domain (PubMed:14563850). In a complex with TOLLIP, recruits ubiquitin-conjugated proteins onto early endosomes (PubMed:15047686). The Tom1-Tollip complex may regulate endosomal trafficking by linking polyubiquitinated proteins to clathrin (PubMed:14563850, PubMed:15047686). Mediates clathrin recruitment to early endosomes by ZFYVE16 (PubMed:15657082). Modulates binding of TOLLIP to phosphatidylinositol 3-phosphate (PtdIns(3)P) via binding competition; the association with TOLLIP may favor the release of TOLLIP from endosomal membranes, allowing TOLLIP to commit to cargo trafficking (PubMed:26320582). Acts as a phosphatidylinositol 5-phosphate (PtdIns(5)P) effector by binding to PtdIns(5)P, thereby regulating endosomal maturation (PubMed:25588840). PtdIns(5)P-dependent recruitment to signaling endosomes may block endosomal maturation (PubMed:25588840). Also inhibits Toll-like receptor (TLR) signaling and participates in immune receptor recycling (PubMed:15047686, PubMed:26320582)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene was identified as a target of the v-myb oncogene. The encoded protein shares its N-terminal domain in common with proteins associated with vesicular trafficking at the endosome. It is recruited to the endosomes by its interaction with endofin. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DEL9;B4DNA1;Q5TIJ6;Q86X74", "ec_number_list": [], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0030276 clathrin binding;GO:0043130 ubiquitin binding;GO:0070853 myosin VI binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0007165 signal transduction;GO:0015031 protein transport;GO:0016197 endosomal transport;GO:1901098 positive regulation of autophagosome maturation", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "O60784-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01534-1", "uniprot_id": [ { "id": "TSPY1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01534", "type": "external" } ], "mass": 35012.0, "length": 308, "protein_name": "Testis-specific Y-encoded protein 1", "gene_name": "TSPY1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TSPY1; TSPY", "gene_names_refseq": "", "protein_names_uniprotkb": "Testis-specific Y-encoded protein 1; CT78; Cancer/testis antigen 78", "protein_names_refseq": "", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); seminoma (Disease Ontology:DOID:4440); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:100289087); (hsa:7258); (hsa:728137)", "pathway_count": 3, "publication_count": 13, "publication_id_list": "10090875;10747295;10773691;11173833;11173850;12527192;1284595;16426576;1765369;27600516;3479749;8244388;8923009", "class_list": "", "function": "May be involved in sperm differentiation and proliferation., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NJD2;O00216;P09002;Q0VAD3;Q9UNN7", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006334 nucleosome assembly;GO:0007548 sex differentiation;GO:0007506 gonadal mesoderm development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q01534-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0G2JLG4-1", "uniprot_id": [ { "id": "A0A0G2JLG4_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0G2JLG4", "type": "external" } ], "mass": 46598.0, "length": 411, "protein_name": "Bile acid-sensitive ion channel", "gene_name": "ASIC5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ASIC5", "gene_names_refseq": "", "protein_names_uniprotkb": "Bile acid-sensitive ion channel", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005272 sodium channel activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A0G2JLG4-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07011-1", "uniprot_id": [ { "id": "TNR9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07011", "type": "external" } ], "mass": 27899.0, "length": 255, "protein_name": "Tumor necrosis factor receptor superfamily member 9", "gene_name": "TNFRSF9", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 9 precursor", "refseq_ac": [ { "id": "NP_001552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001552", "type": "external" } ], "gene_names_uniprotkb": "TNFRSF9; CD137; ILA", "gene_names_refseq": "4-1BB; CD137; CDw137; ILA; IMD109; TNFRSF9", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 9; 4-1BB ligand receptor; CDw137; T-cell antigen 4-1BB homolog; T-cell antigen ILA", "protein_names_refseq": "4-1BB ligand receptor; CD137 antigen; T cell antigen ILA; T-cell antigen 4-1BB homolog; homolog of mouse 4-1BB; induced by lymphocyte activation (ILA); interleukin-activated receptor, homolog of mouse Ly63; receptor protein 4-1BB; tumor necrosis factor receptor superfamily member 9 precursor; tumor necrosis factor receptor superfamily member 9", "tax_id": 9606, "disease": "immunodeficiency 109 (Disease Ontology:DOID:0061078)", "pathway": " (hsa:3604); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;10074428;10359578;10398604;10484778;10597252;10615125;11237011;11571266;11804328;11882293;11911831;12189164;12949498;14656435;15340161;15356117;15470070;16501042;1655907;16959974;17632511;18571443;18606301;20032458;20222921;20307208;20510730;20979233;21300286;22197273;22664871;22801960;24070496;27920218;28904123;30872117;31154438;31844290;33912179;34357683;36811396;38139346;39067675;39135889;7622190;7913952;8088337;8120384;8262389;8871664;9418902;9607925;9878548", "class_list": "", "function": "CD137 expression and signal function drive pleiotropic gammadelta T-cell effector functions that inhibit intracellular M. tuberculosis growth., [RefSeq, PubMed]; Multiplex spatial analysis reveals increased CD137 expression and m-MDSC neighboring tumor cells in refractory classical Hodgkin Lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for TNFSF9/4-1BBL. Conveys a signal that enhances CD8(+) T-cell survival, cytotoxicity, and mitochondrial activity, thereby promoting immunity against viruses and tumors (Probable)., [UniProtKB, PubMed]; Soluble CD137: A Potential Prognostic Biomarker in Critically Ill Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting neuropilin-1 abolishes anti-PD-1-upregulated regulatory T cells and synergizes with 4-1BB agonist for liver cancer treatment., [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this receptor is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this receptor and transduce the signals leading to activation of NF-kappaB. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0042127 regulation of cell population proliferation;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q07011-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75954-1", "uniprot_id": [ { "id": "TSN9_HUMAN", "url": "https://www.uniprot.org/uniprot/O75954", "type": "external" } ], "mass": 26779.0, "length": 239, "protein_name": "Tetraspanin-9", "gene_name": "TSPAN9", "organism": "Human", "refseq_name": "tetraspanin-9", "refseq_ac": [ { "id": "NP_001161792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161792", "type": "external" } ], "gene_names_uniprotkb": "TSPAN9; NET5", "gene_names_refseq": "NET-5; NET5; PP1057; TSPAN9", "protein_names_uniprotkb": "Tetraspanin-9; Tetraspan NET-5; Tspan-9", "protein_names_refseq": "new EST tetraspan 5; tetraspanin-9; transmembrane 4 superfamily member tetraspan NET-5; tspan-9", "tax_id": 9606, "disease": "", "pathway": " (hsa:10867)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10.1101/2023.09.13.557529;10719184;11237011;18795891;18799160;26865714;27177197;31242895;31911756;32938616;35051231;37074911", "class_list": "", "function": "Expression of the membrane protein TSPAN9 regulates gastric cancer cell migration and invasion by inhibiting the FAK-RAS-ERK1/2 signaling pathway. The extracellular secretory protein EMILIN1 can increase this tumor suppressive effect by promoting the expression of TSPAN9. Publication Status: Online-Only, [RefSeq, PubMed]; Findings suggest a role for Tspan9 in regulating platelet function in concert with other platelet tetraspanins and their associated proteins., [RefSeq, PubMed]; TSPAN9 is an endosomal tetraspanin whose depletion has a pronounced effect on the entry of several viruses that fuse in the early endosome. Publication Status: Online-Only, [RefSeq, PubMed]; Tetraspanin CD9 has a role in determining vascular smooth muscle cell injury phenotypes, [RefSeq, PubMed]; The proliferation, migration and invasion of human gastric cancer SGC7901 cells were significantly inhibited by overexpression of Tspan9., [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Nov 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DUQ7;Q53FV2;Q6FGJ8", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0031012 extracellular matrix;GO:0097197 tetraspanin-enriched microdomain;GO:0140494 migrasome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "O75954-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6T0-6", "uniprot_id": [ { "id": "TO6BL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6T0", "type": "external" } ], "mass": 57042.0, "length": 511, "protein_name": "Type 2 DNA topoisomerase 6 subunit B-like", "gene_name": "TOP6BL", "organism": "Human", "refseq_name": "type 2 DNA topoisomerase 6 subunit B-like isoform b", "refseq_ac": [ { "id": "NP_001289013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289013", "type": "external" } ], "gene_names_uniprotkb": "TOP6BL; C11orf80", "gene_names_refseq": "C11orf80; HYDM4; TOP6BL; TOPOVIBL", "protein_names_uniprotkb": "Type 2 DNA topoisomerase 6 subunit B-like; TOP6B like initiator of meiotic double strand breaks; TOPOVIBL; Type 2 DNA topoisomerase VI subunit B-like", "protein_names_refseq": "type 2 DNA topoisomerase 6 subunit B-like isoform b; type 2 DNA topoisomerase 6 subunit B-like; type 2 DNA topoisomerase VI subunit B-like", "tax_id": 9606, "disease": "gestational trophoblastic neoplasm (Disease Ontology:DOID:3590); hydatidiform mole, recurrent, 4 (MONDO:MONDO:0032747)", "pathway": " (hsa:79703)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "18160775;19880432;25576301;25645385;26917764;27529678;30388401;33592498;36732965;41211863", "class_list": "", "function": "Non-catalytic component of a topoisomerase 6 complex specifically required for double-strand breaks (DSB) formation that initiate meiotic recombination (PubMed:36732965, PubMed:41211863). Together with SPO11, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination (By similarity). The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles (By similarity). Within the complex, TOP6BL may sense specific DNA architectures, such as bendable and underwound DNA for cleavage by SPO11 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Top association findings suggested that the bipolar disorder risk allele at SNP rs10896235 in C11orf80 may be associated with increased risk of headache, including migraine. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DXL1;Q9H677", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005694 chromosome", "go_biological_process": "GO:0042138 meiotic DNA double-strand break formation;GO:0007131 reciprocal meiotic recombination", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8N6T0-6", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CP7-1", "uniprot_id": [ { "id": "TLCD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CP7", "type": "external" } ], "mass": 28548.0, "length": 247, "protein_name": "TLC domain-containing protein 1", "gene_name": "TLCD1", "organism": "Human", "refseq_name": "TLC domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001153879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153879", "type": "external" } ], "gene_names_uniprotkb": "TLCD1", "gene_names_refseq": "TLCD1", "protein_names_uniprotkb": "TLC domain-containing protein 1; Calfacilitin", "protein_names_refseq": "TLC domain-containing protein 1 isoform 2; TLC domain-containing protein 1; calfacilitin", "tax_id": 9606, "disease": "", "pathway": " (hsa:116238)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;25892735;28860189;29557506;29769354;30509349;31844290;33717175;33936100;33968037;36241646", "class_list": "", "function": "Inhibition of FLD-1 or TLCD1/2 prevents lipotoxicity by allowing increased levels of membrane phospholipids that contain fluidizing long-chain polyunsaturated fatty acids. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates the composition and fluidity of the plasma membrane (PubMed:30509349). Inhibits the incorporation of membrane-fluidizing phospholipids containing omega-3 long-chain polyunsaturated fatty acids (LCPUFA) and thereby promotes membrane rigidity (PubMed:30509349). Does not appear to have any effect on LCPUFA synthesis (PubMed:30509349)., [UniProtKB, PubMed]; TLCD1 and TLCD2 regulate cellular phosphatidylethanolamine composition and promote the progression of non-alcoholic steatohepatitis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MYP9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007009 plasma membrane organization;GO:0055091 phospholipid homeostasis;GO:0071709 membrane assembly;GO:0097035 regulation of membrane lipid distribution", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q96CP7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q66K66-1", "uniprot_id": [ { "id": "TM198_HUMAN", "url": "https://www.uniprot.org/uniprot/Q66K66", "type": "external" } ], "mass": 39475.0, "length": 360, "protein_name": "Transmembrane protein 198", "gene_name": "TMEM198", "organism": "Human", "refseq_name": "transmembrane protein 198", "refseq_ac": [ { "id": "NP_001005209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005209", "type": "external" } ], "gene_names_uniprotkb": "TMEM198", "gene_names_refseq": "TMEM198A; TMEM198", "protein_names_uniprotkb": "Transmembrane protein 198", "protein_names_refseq": "transmembrane protein 198", "tax_id": 9606, "disease": "", "pathway": " (hsa:130612)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;21536646;24715725;28228285;29393594;31154438;31844290;34087483;35051231;35154160", "class_list": "", "function": "Promotes LRP6 phosphorylation by casein kinases and thereby plays a role in Wnt signaling. May be a membrane scaffold protein involved in the self-aggregation of LRP6 to further enhance its activity., [UniProtKB, PubMed]; These results identified TMEM198 as a membrane scaffold protein that promotes LRP6 phosphorylation and Wnt signaling activation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031410 cytoplasmic vesicle;GO:0016020 membrane", "go_biological_process": "GO:0016055 Wnt signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q66K66-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15405-1", "uniprot_id": [ { "id": "TOX3_HUMAN", "url": "https://www.uniprot.org/uniprot/O15405", "type": "external" } ], "mass": 63342.0, "length": 576, "protein_name": "TOX high mobility group box family member 3", "gene_name": "TOX3", "organism": "Human", "refseq_name": "TOX high mobility group box family member 3 isoform 1", "refseq_ac": [ { "id": "NP_001073899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073899", "type": "external" } ], "gene_names_uniprotkb": "TOX3; CAGF9; TNRC9", "gene_names_refseq": "CAGF9; TNRC9; TOX3", "protein_names_uniprotkb": "TOX high mobility group box family member 3; CAG trinucleotide repeat-containing gene F9 protein; Trinucleotide repeat-containing gene 9 protein", "protein_names_refseq": "CAG trinucleotide repeat-containing gene F9 protein; TOX high mobility group box family member 3 isoform 1; trinucleotide repeat-containing gene 9 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:27324)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;17997823;21172805;28218747;28514659;28832583;29242379;29351928;29393594;29557506;30429286;31844290;33592498;33716953;33740609;34260521;35200585;35347804;35580925;9225980", "class_list": "", "function": "Association between CASC16 rs4784227 polymorphism and breast cancer susceptibility: A meta-analysis., [RefSeq, PubMed]; Genetic polymorphism of fibroblast growth factor receptor 2 and trinucleotide repeat-containing 9 influence the susceptibility to HCV-induced hepatocellular carcinoma., [RefSeq, PubMed]; Heterozygote carriers and minor allele homozygote carriers for SNP rs3803662 near the TNCR9 gene were more likely to be diagnosed before the age of 60 years (P = 0.025) relative to major allele homozygote carriers GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Risk Association of TOX3 and MMP7 Gene Polymorphisms with Sporadic Breast Cancer in Mexican Women. Publication Status: Online-Only, [RefSeq, PubMed]; TOX3 Promotes Ovarian Estrogen Synthesis: An RNA-Sequencing and Network Study. Publication Status: Online-Only, [RefSeq, PubMed]; TOX3 regulates the proliferation and apoptosis of colorectal cancer by downregulating RhoB via the activation of the MAPK pathway., [RefSeq, PubMed]; The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]., [RefSeq]; Transcriptional coactivator of the p300/CBP-mediated transcription complex. Activates transactivation through cAMP response element (CRE) sites. Protects against cell death by inducing antiapoptotic and repressing pro-apoptotic transcripts. Stimulates transcription from the estrogen-responsive or BCL-2 promoters. Required for depolarization-induced transcription activation of the C-FOS promoter in neurons. Associates with chromatin to the estrogen-responsive C3 promoter region., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DRD0;B5MCW4", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0042803 protein homodimerization activity;GO:0051219 phosphoprotein binding;GO:0031490 chromatin DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006915 apoptotic process;GO:0043524 negative regulation of neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "O15405-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z403-1", "uniprot_id": [ { "id": "TMC6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z403", "type": "external" } ], "mass": 90045.0, "length": 805, "protein_name": "Transmembrane channel-like protein 6", "gene_name": "TMC6", "organism": "Human", "refseq_name": "transmembrane channel-like protein 6 isoform 1", "refseq_ac": [ { "id": "NP_001120670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120670", "type": "external" } ], "gene_names_uniprotkb": "TMC6; EVER1; EVIN1", "gene_names_refseq": "EV1; EVER1; EVIN1; LAK-4P; TMC6; TNRC6C-AS1; lnc", "protein_names_uniprotkb": "Transmembrane channel-like protein 6; Epidermodysplasia verruciformis protein 1; Protein LAK-4", "protein_names_refseq": "TNRC6C antisense RNA 1; epidermodysplasia verruciformis 1; epidermodysplasia verruciformis protein 1; expressed in activated T/LAK lymphocytes; protein LAK-4; transmembrane channel-like protein 6 isoform 1; transmembrane channel-like protein 6", "tax_id": 9606, "disease": "epidermodysplasia verruciformis (Disease Ontology:DOID:13777)", "pathway": " (hsa:11322); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12426567;12906855;15042430;17081983;18158319;23186163;23481700;23650620;24129315;25505266;25576301;25892735;26154972;26375851;26992070;27600516;27862975;28218747;28228285;28467828;28832583;28834231;28871256;28904123;29242379;29314611;29493099;29557506;29632711;29769354;29786170;30068544;30315122;30379171;30429286;30573663;30779550;31092671;31217245;31530632;31844290;31848261;32157095;32350084;32387766;32488085;32502341;32897882;32917726;32983136;33141586;33298915;33392160;33537174;33633747;33717175;33936100;33968037;34171305;34185709;34357683;34509645;34932366;35051231;35154160;35251023;35561310;35580925;36215666;36284347;37938771;38574087;8692836", "class_list": "", "function": "A Novel Large Deletion in the EVER1 Gene in a Family With Epidermodysplasia Verruciformis From India., [RefSeq, PubMed]; Acts as a regulatory protein involved in the regulation of numerous cellular processes (PubMed:18158319, PubMed:30068544, PubMed:32917726). Together with its homolog TMC8/EVER2, forms a complex with CIB1 in lymphocytes and keratynocytes where TMC6 and TMC8 stabilize CIB1 and reciprocally (PubMed:30068544, PubMed:32917726). Together with TMC8, also forms a complex with and activates zinc transporter ZNT1 at the ER membrane of keratynocytes, thereby facilitating zinc uptake into the ER (PubMed:18158319). Down-regulates the activity of transcription factors induced by zinc and cytokines (PubMed:18158319). Also plays a role in thermal sensation by inhibiting the M-channel (KCNQ2-KCNQ3 channel) current in primary sensory neurons (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]., [RefSeq]; Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components., [RefSeq, PubMed]; Mutations in EVER1 are associated with epidermodysplasia verruciformis., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O43284;Q45VJ2;Q8IU98;Q8IUI7;Q8IWU8;Q8TEQ7;Q9HAG5", "ec_number_list": [], "go_molecular_function": "GO:0008381 mechanosensitive monoatomic ion channel activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0050821 protein stabilization;GO:0006882 intracellular zinc ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q7Z403-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20231-1", "uniprot_id": [ { "id": "TRYB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P20231", "type": "external" } ], "mass": 30651.0, "length": 275, "protein_name": "Tryptase beta-2", "gene_name": "TPSB2", "organism": "Human", "refseq_name": "tryptase beta-2 preproprotein", "refseq_ac": [ { "id": "NP_077078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077078", "type": "external" } ], "gene_names_uniprotkb": "TPSB2; TPS2", "gene_names_refseq": "TPS2; TPSB2; tryptaseB; tryptaseC", "protein_names_uniprotkb": "Tryptase beta-2; 3.4.21.59; Tryptase II; Tryptase-2", "protein_names_refseq": "mast cell tryptase beta III; testicular tissue protein Li 163; tryptase beta-2 preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64499)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10500112;11237011;14670919;18039527;19748655;2187193;2203827;23481700;24142694;28228285;29242379;29741879;29786170;29789417;31337736;31848261;37511292;8434231;9521329;9920877", "class_list": "", "function": "Allosteric effects of alpha-tryptase protomers on neighboring beta-tryptase protomers likely result in the novel substrate repertoire of alpha/beta-tryptase tetramers that in turn cause some of the clinical features of hereditary alpha-tryptasemia and of other disorders involving mast cells., [RefSeq, PubMed]; Increase in TPSB2 and TPSD1 Expression in Synovium of Hip Osteoarthritis Patients Who Are Overweight. Publication Status: Online-Only, [RefSeq, PubMed]; These observations indicate that betaII-tryptase activity is post-translationally regulated by an allosteric disulfide bond., [RefSeq, PubMed]; Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity., [UniProtKB, UniProtKB]; Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, beta II and beta III. Beta tryptases appear to be the main isoenzymes expressed in mast cells, whereas in basophils, alpha-tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 8712, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D2E6S0;D2E6S2;O95827;Q15664;Q9UQI6;Q9UQI7", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "P20231-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0B7-1", "uniprot_id": [ { "id": "TNG6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0B7", "type": "external" } ], "mass": 120748.0, "length": 1094, "protein_name": "Transport and Golgi organization protein 6 homolog", "gene_name": "TANGO6", "organism": "Human", "refseq_name": "transport and Golgi organization protein 6 homolog", "refseq_ac": [ { "id": "NP_078838", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078838", "type": "external" } ], "gene_names_uniprotkb": "TANGO6; KIAA1746; TMCO7", "gene_names_refseq": "TANGO6; TMCO7", "protein_names_uniprotkb": "Transport and Golgi organization protein 6 homolog; Transmembrane and coiled-coil domain-containing protein 7", "protein_names_refseq": "transmembrane and coiled-coil domain-containing protein 7; transmembrane and coiled-coil domains 7; transport and Golgi organization protein 6 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:79613)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;22544926;23481700;24714562;24715725;25505266;25576301;25645385;25880248;26728094;26992070;27600516;27846572;28218747;28228285;28446606;28832583;28834231;28904123;29242379;29437277;29557506;30315122;30429286;30524438;30833945;31844290;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34509645;34932366;35051231;35580925;36010968", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q569F9;Q9H9K1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0009306 protein secretion", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9C0B7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZVM7-1", "uniprot_id": [ { "id": "TM1L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZVM7", "type": "external" } ], "mass": 55556.0, "length": 507, "protein_name": "TOM1-like protein 2", "gene_name": "TOM1L2", "organism": "Human", "refseq_name": "TOM1-like protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001028723", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028723", "type": "external" } ], "gene_names_uniprotkb": "TOM1L2", "gene_names_refseq": "TOM1L2", "protein_names_uniprotkb": "TOM1-like protein 2; Target of Myb-like protein 2", "protein_names_refseq": "TOM1-like protein 2 isoform 1; TOM1-like protein 2; target of Myb-like protein 2; target of myb1-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:146691)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;11997338;15951569;16412388;16479011;17389395;18212344;18669648;19651622;19901323;20068231;23023224;23481700;24714562;25502872;25576301;26728094;28228285;28832583;29242379;29485866;29557506;29632711;29769354;30315122;30429286;30779550;31154438;31844290;31848261;31998317;32157095;32350084;32488085;32938616;33298915;33592498;33912179;33968037;34087483;34171305;34357683;34433824;35051231;35132862;35154160;35251023;35580925;36010968;36241641;37019113;39531497;39894887", "class_list": "", "function": "Acts as a MYO6/Myosin VI adapter protein that targets myosin VI to endocytic structures (PubMed:23023224). May also play a role in recruiting clathrin to endosomes (PubMed:16412388). May regulate growth factor-induced mitogenic signaling (PubMed:16479011)., [UniProtKB, PubMed, PubMed, PubMed]; The ancestral ESCRT protein TOM1L2 selects ubiquitinated cargoes for retrieval from cilia., [RefSeq, PubMed]; This gene belongs to a small gene family whose members have an N-terminal VHS domain followed by a GAT domain; domains which typically participate in vesicular trafficking. The canonical protein encoded by this gene also has a C-terminal clathrin binding motif. This protein has been shown to interact with Tollip, clathrin and ubiquitin and is thought to play a role in endosomal sorting. This gene resides in the 3.7 Mb deletion of chromosome region 17p11.2 that is associated with Smith-Magenis syndrome. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Apr 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z2L7;B7Z7F4;Q86V61;Q8TDE7;Q96M88", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0030276 clathrin binding;GO:0035091 phosphatidylinositol binding;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005768 endosome;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007165 signal transduction;GO:0015031 protein transport;GO:0045839 negative regulation of mitotic nuclear division", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q6ZVM7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9JJH3-1", "uniprot_id": [ { "id": "U17LA_HUMAN", "url": "https://www.uniprot.org/uniprot/C9JJH3", "type": "external" } ], "mass": 59886.0, "length": 530, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 10", "gene_name": "USP17L10", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 17-like protein 10", "refseq_ac": [ { "id": "NP_001243781", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243781", "type": "external" } ], "gene_names_uniprotkb": "USP17L10", "gene_names_refseq": "USP17L10", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 10; 3.4.19.12", "protein_names_refseq": "ubiquitin carboxyl-terminal hydrolase 17-like protein 10", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:100287144); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10444327;10982817;11566882;11923872;12917689;12917691;14661020;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;33392160;7578059", "class_list": "", "function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.4.26.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.26.1", "type": "external" } ], "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "C9JJH3-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35442-1", "uniprot_id": [ { "id": "TSP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P35442", "type": "external" } ], "mass": 129991.0, "length": 1172, "protein_name": "Thrombospondin-2", "gene_name": "THBS2", "organism": "Human", "refseq_name": "thrombospondin-2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_003238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003238", "type": "external" } ], "gene_names_uniprotkb": "THBS2; TSP2", "gene_names_refseq": "EDSCLL3; THBS2; TSP2", "protein_names_uniprotkb": "Thrombospondin-2", "protein_names_refseq": "thrombospondin-2 isoform 1 precursor", "tax_id": 9606, "disease": "degenerative disc disease (Disease Ontology:DOID:90); Ehlers-Danlos syndrome, classic-like, 3 (MONDO:MONDO:0971044)", "pathway": " (hsa:7058); (R-HSA-186797); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 4, "publication_count": 84, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10508235;11067851;11237011;11590138;12369853;12538485;1311092;1371676;15207811;1559694;15615512;15767546;16186819;16331269;1639841;16436588;16464858;16474853;17367763;17604334;17943726;18455130;18499674;18559524;18720094;19564526;19796186;20714802;20813817;21251937;21376233;22588082;22933705;23090970;23583652;23584533;23889335;24190977;25328409;25544610;25597754;27600516;28035807;28435517;28514659;29093164;29093181;29137923;29242379;29263244;29393594;29408302;29557506;29632711;29741879;29786170;29789417;29964125;30389923;31085175;31844290;32157095;32938616;33592498;33968037;34087483;35051231;35580925;36010968;36241641;36284347;37074911;37807313;37943619;38010940;38339060;38433265;8406456;8900172;9334164;9739761", "class_list": "glycogene", "function": "Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Ligand for CD36 mediating antiangiogenic properties., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice., [RefSeq, PubMed]; MiR-214-3p suppresses cervical cancer cell metastasis by downregulating THBS2. Publication Status: Online-Only, [RefSeq, PubMed]; THBS1 and THBS2 Enhance the In Vitro Proliferation, Adhesion, Migration and Invasion of Intrahepatic Cholangiocarcinoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. [provided by RefSeq, Jul 2008]., [RefSeq]; Thrombospondin 2 is a key determinant of fibrogenesis in non-alcoholic fatty liver disease., [RefSeq, PubMed]; Thrombospondin 2 is a novel biomarker of essential hypertension and associated with nocturnal Na[+] excretion and insulin resistance., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1553, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 76, "disease_count": 2, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A6H8N1;A7E232;Q5RI52", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix;GO:0005604 basement membrane;GO:0031091 platelet alpha granule;GO:1990341 thrombospondin complex", "go_biological_process": "GO:0007155 cell adhesion;GO:0051965 positive regulation of synapse assembly;GO:0016525 negative regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "P35442-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63316-1", "uniprot_id": [ { "id": "TNNC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P63316", "type": "external" } ], "mass": 18403.0, "length": 161, "protein_name": "Troponin C, slow skeletal and cardiac muscles", "gene_name": "TNNC1", "organism": "Human", "refseq_name": "troponin C, slow skeletal and cardiac muscles", "refseq_ac": [ { "id": "NP_003271", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003271", "type": "external" } ], "gene_names_uniprotkb": "TNNC1; TNNC", "gene_names_refseq": "CMD1Z; CMH13; TN-C; TNC; TNNC1; TNNC", "protein_names_uniprotkb": "Troponin C, slow skeletal and cardiac muscles; TN-C", "protein_names_refseq": "cardiac troponin C; slow twitch skeletal/cardiac muscle troponin C; troponin C type 1 (slow); troponin C, slow skeletal and cardiac muscles", "tax_id": 9606, "disease": "hypertrophic cardiomyopathy 13 (Disease Ontology:DOID:0110319); dilated cardiomyopathy 1Z (Disease Ontology:DOID:0110434); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984)", "pathway": " (hsa:7134); (R-HSA-390522)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10747208;11237011;11385718;12732641;15542288;16302972;18572189;19439414;2250022;24715725;29393594;29557506;30429286;30779550;3166492;31844290;34502534;34797443;35051231;38871035;3951483;9219516;9315850", "class_list": "", "function": "De Novo Missense Mutations in TNNC1 and TNNI3 Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting Agents. Publication Status: Online-Only, [RefSeq, PubMed]; Troponin C gene mutations on cardiac muscle cell and skeletal Regulation: A comprehensive review. Review article, [RefSeq, PubMed]; Troponin C-1 Activated by E2F1 Accelerates Gastric Cancer Progression via Regulating TGF-beta/Smad Signaling., [RefSeq, PubMed]; Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]., [RefSeq]; Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O14800;P02590;P04463", "ec_number_list": [], "go_molecular_function": "GO:0031014 troponin T binding;GO:0042803 protein homodimerization activity;GO:0048306 calcium-dependent protein binding;GO:0051015 actin filament binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:1990584 cardiac Troponin complex;GO:0005829 cytosol;GO:0030017 sarcomere;GO:0005861 troponin complex", "go_biological_process": "GO:0086003 cardiac muscle cell contraction;GO:0003009 skeletal muscle contraction;GO:0030049 muscle filament sliding;GO:0060048 cardiac muscle contraction;GO:0006937 regulation of muscle contraction", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P63316-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZSZ6-1", "uniprot_id": [ { "id": "TSH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZSZ6", "type": "external" } ], "mass": 117916.0, "length": 1077, "protein_name": "Teashirt homolog 1", "gene_name": "TSHZ1", "organism": "Human", "refseq_name": "teashirt homolog 1 isoform 1", "refseq_ac": [ { "id": "NP_001295139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295139", "type": "external" } ], "gene_names_uniprotkb": "TSHZ1; SDCCAG33; TSH1", "gene_names_refseq": "CAA; NY-CO-33; SDCCAG33; TSH1; TSHZ1", "protein_names_uniprotkb": "Teashirt homolog 1; Antigen NY-CO-33; Serologically defined colon cancer antigen 33", "protein_names_refseq": "antigen NY-CO-33; serologically defined colon cancer antigen 33; teashirt homolog 1 isoform 1; teashirt homolog 1", "tax_id": 9606, "disease": "aural atresia, congenital (MONDO:MONDO:0011921)", "pathway": " (hsa:10194)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17586487;19343227;21874228;22152683;23186163;24487590;25918232;26621817;27846572;28904123;29242379;29769354;30379171;30784271;31217245;31844290;32157095;32357974;32938616;33912179;35051231;38665916;9610721", "class_list": "", "function": "A significant up-regulation of BORIS (p<0.001) and TSHZ1 transcripts (p<0.05) for JAs compared to nasal mucosa., [RefSeq, PubMed]; Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. Publication Status: Online-Only, [RefSeq, PubMed]; Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential)., [UniProtKB]; TSHZ1 is a key regulator of mammalian olfactory bulb development and function and controls the expression of PROKR2. Erratum:[J Clin Invest. 2022 Aug 15;132(16):e163087. doi: 10.1172/JCI163087. PMID: 35968788], [RefSeq, PubMed]; TSHZ1 levels are reduced in human islets of donors with type 2 diabetes, [RefSeq, PubMed]; This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]., [RefSeq]; This publication characterizes the mouse ortholog of the human teashirt zinc finger homeobox 1 gene and proposes that the human gene may be a candidate gene for CAA syndrome., [RefSeq, PubMed]; Together, these results demonstrate that hemizygosity of TSHZ1 leads to congenital aural atresia as a result of haploinsufficiency, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "O60534;Q4LE29;Q53EU4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q6ZSZ6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95150-1", "uniprot_id": [ { "id": "TNF15_HUMAN", "url": "https://www.uniprot.org/uniprot/O95150", "type": "external" } ], "mass": 28087.0, "length": 251, "protein_name": "Tumor necrosis factor ligand superfamily member 15", "gene_name": "TNFSF15", "organism": "Human", "refseq_name": "tumor necrosis factor ligand superfamily member 15 isoform VEGI-192", "refseq_ac": [ { "id": "NP_001191273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191273", "type": "external" } ], "gene_names_uniprotkb": "TNFSF15; TL1A; TL1; VEGI", "gene_names_refseq": "TL1A; TL1; TNFSF15; TNLG1B; VEGI192A; VEGI", "protein_names_uniprotkb": "Tumor necrosis factor ligand superfamily member 15; TNF ligand-related molecule 1; Vascular endothelial cell growth inhibitor", "protein_names_refseq": "TNF ligand-related molecule 1; TNF superfamily ligand TL1A; tumor necrosis factor (ligand) superfamily, member 15; tumor necrosis factor ligand 1B; tumor necrosis factor ligand superfamily member 15 isoform VEGI-192; tumor necrosis factor superfamily member 15; vascular endothelial cell growth inhibitor; vascular endothelial growth inhibitor-192A", "tax_id": 9606, "disease": "inflammatory bowel disease 16 (Disease Ontology:DOID:0110896)", "pathway": " (hsa:9966); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10074428;10359578;10398604;10484778;10597252;10615125;11237011;11571266;11882293;11911831;11923219;12189164;12949498;14656435;15356117;15470070;16501042;1655907;17632511;17935696;18571443;18606301;20032458;20222921;20307208;20510730;20979233;21300286;22197273;22664871;22801960;24070496;24715725;31217245;31844290;32983136;37156999;37392242;38597952;38866875;38987753;7913952;8120384;8871664;9434163;9872942;9878548", "class_list": "", "function": "Cytokine that signals through TNFRSF25 receptor (PubMed:11911831). Functions as a T-cell costimulator, that increases IL-2 responsiveness and secretion of proinflammatory cytokines which enhances T-cell activation, proliferation and the survival of activated T-cells (PubMed:10597252, PubMed:11911831). Inhibits vascular endothelial growth and angiogenesis (in vitro) (PubMed:11923219, PubMed:9872942). Binds to the decoy receptor TNFRSF6B, blocking the activation normally triggered by TNFSF15 and leading to decreased T-cell activation and reduced inflammation (PubMed:21300286)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries., [RefSeq, PubMed]; MicroRNA-141-regulated KLK10 and TNFSF-15 gene expression in hepatoblastoma cells as a novel mechanism in liver carcinogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Necroptosis plays a role in TL1A-induced airway inflammation and barrier damage in asthma. Publication Status: Online-Only, [RefSeq, PubMed]; TL1A is an epithelial alarmin that cooperates with IL-33 for initiation of allergic airway inflammation., [RefSeq, PubMed]; The Relation of VEGFA, VEGFR2, VEGI, and HIF1A Genetic Variants and Their Serum Protein Levels with Breast Cancer in Egyptian Patients., [RefSeq, PubMed]; The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is abundantly expressed in endothelial cells, but is not expressed in either B or T cells. The expression of this protein is inducible by TNF and IL-1 alpha. This cytokine is a ligand for receptor TNFRSF25 and decoy receptor TNFRSF21/DR6. It can activate NF-kappaB and MAP kinases, and acts as an autocrine factor to induce apoptosis in endothelial cells. This cytokine is also found to inhibit endothelial cell proliferation, and thus may function as an angiogenesis inhibitor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q3SX69;Q5VJK8;Q5VWH1;Q8NFE9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0005164 tumor necrosis factor receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006955 immune response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:2001238 positive regulation of extrinsic apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "O95150-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35030-1", "uniprot_id": [ { "id": "TRY3_HUMAN", "url": "https://www.uniprot.org/uniprot/P35030", "type": "external" } ], "mass": 32529.0, "length": 304, "protein_name": "Trypsin-3", "gene_name": "PRSS3", "organism": "Human", "refseq_name": "trypsin-3 isoform 4 preproprotein", "refseq_ac": [ { "id": "NP_001184027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184027", "type": "external" } ], "gene_names_uniprotkb": "PRSS3; PRSS4; TRY3; TRY4", "gene_names_refseq": "MTG; PRSS3; PRSS4; T9; TRY3; TRY4", "protein_names_uniprotkb": "Trypsin-3; 3.4.21.4; Brain trypsinogen; Mesotrypsinogen; Mesotrypsin; Serine protease 3; Serine protease 4; Trypsin III; Trypsin IV", "protein_names_refseq": "brain trypsinogen; mesotrypsinogen; pancreatic trypsinogen III; protease, serine 3; protease, serine, 4 (trypsin 4, brain); trypsin III; trypsin IV; trypsin-3 isoform 4 preproprotein; trypsin-3; trypsinogen 4; trypsinogen 5; trypsinogen IV", "tax_id": 9606, "disease": "cystic fibrosis (Disease Ontology:DOID:1485); pancreatitis (Disease Ontology:DOID:4989); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:5646); (R-HSA-1462054); (R-HSA-6798695); (R-HSA-6803157); (R-HSA-9725554); (R-HSA-9758881)", "pathway_count": 6, "publication_count": 135, "publication_id_list": "10080186;10618521;10887099;11120840;11237011;11313366;11389039;11827488;11971875;12021776;12060767;12067728;12493837;12590260;12624109;1302183;1339298;13816;1445872;14506276;14507909;14576052;14739326;15140226;15210812;1522221;15229136;15234001;1547345;15556625;15675955;15778384;15780751;15826377;15956276;16054449;16215847;16297201;16336202;16354652;16354654;16374474;16799473;16931762;16940129;17088326;17330888;17363965;17502600;17567961;17954916;17964057;17990953;18021746;18077447;18160480;18185531;18673279;18973303;19095652;19136951;19179970;19254208;19818633;19924134;2006422;20103720;20180804;20237569;20382864;20395631;20510021;20845358;21787330;22262861;22327069;22455996;22547309;22631584;22701042;22735594;22900303;22922874;2326201;23283814;23302724;23426625;23629652;23650620;24219363;24256734;24794495;2500436;25075772;25301953;25461571;25596890;26148048;26340985;2668334;27089320;27456980;27810896;2997278;30523278;30777892;30905808;31399284;3286634;33758142;33845046;33968037;33981976;34087483;34105348;34195683;35051231;35896602;36618965;37395651;38253038;39302247;39990658;4001945;40596516;6698368;7833799;8294000;8329717;8692836;9099703;9169779;9523110;9665269;9756476", "class_list": "", "function": "Digestive protease that cleaves proteins preferentially after an Arg residue and has proteolytic activity toward Kunitz-type trypsin inhibitors., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; High Expression of PRSS3 Indicates Unfavorable Clinical Outcomes in Colon Adenocarcinoma., [RefSeq, PubMed]; Host neuronal PRSS3 interacts with enterovirus A71 3A protein and its role in viral replication. Publication Status: Online-Only, [RefSeq, PubMed]; In-depth proteomics analysis of sentinel lymph nodes from individuals with endometrial cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Serine Protease 3 Promotes Progression of Diffuse Large B-Cell Lymphoma and Serves as a Novel Prognostic Predictor. Publication Status: Online-Only, [RefSeq, PubMed]; Shear Stress Drives the Cleavage Activation of Protease-Activated Receptor 2 by PRSS3/Mesotrypsin to Promote Invasion and Metastasis of Circulating Lung Cancer Cells., [RefSeq, PubMed]; This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is expressed in the brain and pancreas and is resistant to common trypsin inhibitors. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene is localized to the locus of T cell receptor beta variable orphans on chromosome 9. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8CED1;A8CED3;A9Z1Y4;E7ES07;F8W7P3;P15951;Q15665;Q5VXV0;Q6ISJ4;Q9UQV3", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.4.21.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.1", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "3.4.21.117", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.117", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "2.1.1.348", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.348", "type": "external" }, { "id": "2.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.9", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0005509 calcium ion binding;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:1904724 tertiary granule lumen", "go_biological_process": "GO:0006508 proteolysis;GO:0043542 endothelial cell migration;GO:0007586 digestion;GO:0019730 antimicrobial humoral response;GO:0031638 zymogen activation", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "P35030-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4W5P6-1", "uniprot_id": [ { "id": "SIM43_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4W5P6", "type": "external" } ], "mass": 7323.0, "length": 63, "protein_name": "Small integral membrane protein 43", "gene_name": "SMIM43; TMEM155", "organism": "Human", "refseq_name": "small integral membrane protein 43", "refseq_ac": [ { "id": "NP_001371261", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001371261", "type": "external" } ], "gene_names_uniprotkb": "SMIM43; TMEM155; TMEM155", "gene_names_refseq": "NEMEP; SMIM43; TMEM155", "protein_names_uniprotkb": "Small integral membrane protein 43; NEMEP; Nodal enhanced mesendoderm micropeptide", "protein_names_refseq": "Nodal Enhanced MEsendoderm Peptide; protein TMEM155; small integral membrane protein 43; transmembrane protein 155", "tax_id": 9606, "disease": "", "pathway": " (hsa:132332)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;35810171", "class_list": "", "function": "Required for mesendoderm differentiation (By similarity). Interacts with glucose transporters and promotes glucose uptake (PubMed:35810171). Probably augments the glucose uptake capacity of glucose transporter proteins to meet the energy needs of mesendoderm differentiation (By similarity)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A2R8YEN4;D3DNW9;Q96NI2", "ec_number_list": [], "go_molecular_function": "GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0048382 mesendoderm development", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q4W5P6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "H0UI37-1", "uniprot_id": [ { "id": "TSTD3_HUMAN", "url": "https://www.uniprot.org/uniprot/H0UI37", "type": "external" } ], "mass": 11268.0, "length": 97, "protein_name": "Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 3", "gene_name": "TSTD3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TSTD3", "gene_names_refseq": "", "protein_names_uniprotkb": "Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 3; Rhodanese domain-containing protein 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "31154438", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "H0UI37-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P9G4-1", "uniprot_id": [ { "id": "TM154_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P9G4", "type": "external" } ], "mass": 20498.0, "length": 183, "protein_name": "Transmembrane protein 154", "gene_name": "TMEM154", "organism": "Human", "refseq_name": "transmembrane protein 154 precursor", "refseq_ac": [ { "id": "NP_689893", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689893", "type": "external" } ], "gene_names_uniprotkb": "TMEM154", "gene_names_refseq": "TMEM154", "protein_names_uniprotkb": "Transmembrane protein 154", "protein_names_refseq": "transmembrane protein 154 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:201799)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10.1038/emboj.2013.79;11237011;18077418;23481700;23584533;24715725;25799151;26154972;26992070;27846572;27920218;28832583;29557506;29632711;29786170;29789417;30315122;30524438;31844290;32157095;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33936100;33968037;34509645;35051231;37738238", "class_list": "", "function": "Genetic associations of TMEM154, PRC1 and ZFAND6 loci with type 2 diabetes in an endogamous business community of North India. Publication Status: Online-Only, [RefSeq, PubMed]; The diabetogenic impact of the C-allele of TMEM154-rs6813195 is mediated through reduced beta cell function. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8WUT7;Q96MQ8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q6P9G4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C037-1", "uniprot_id": [ { "id": "TRIM4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C037", "type": "external" } ], "mass": 57461.0, "length": 500, "protein_name": "E3 ubiquitin-protein ligase TRIM4", "gene_name": "TRIM4", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM4 isoform alpha", "refseq_ac": [ { "id": "NP_148977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_148977", "type": "external" } ], "gene_names_uniprotkb": "TRIM4; RNF87", "gene_names_refseq": "RNF87; TRIM4", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM4; 2.3.2.27; RING finger protein 87; RING-type E3 ubiquitin transferase TRIM4; Tripartite motif-containing protein 4", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM4 isoform alpha; E3 ubiquitin-protein ligase TRIM4; RING finger protein 87; RING-type E3 ubiquitin transferase TRIM4; tripartite motif protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:89122); (R-HSA-168928); (R-HSA-5689896); (R-HSA-918233); (R-HSA-933541); (R-HSA-933542); (R-HSA-933543); (R-HSA-936440); (R-HSA-9705671); (R-HSA-983168)", "pathway_count": 10, "publication_count": 225, "publication_id_list": "10082512;10385526;10421793;10581243;11002417;11062501;11073981;11237011;11244049;11331580;11350924;11463333;11717445;12019269;12107169;12133833;12221085;12604599;12646216;12692549;12759408;12884866;14661020;14703513;14734113;15208624;15224091;15224092;15258597;15334086;15361868;15571818;15944288;16125763;16127453;16153868;16281057;16306936;16394098;16585540;16595681;16618810;16699525;16715065;16846591;16849449;16858409;16914100;16954532;17156811;17190786;17327220;17392790;17526488;17600090;17991829;18057259;18200010;18307765;18591409;18662542;18761323;19017631;19028597;19125153;19352404;19383985;19452197;19464428;19479062;19484123;19489725;19531363;19666475;19668221;19818707;19851334;19874575;19881509;19893624;19940261;19996094;20043992;20304918;20403326;20434986;20553488;20627800;20628368;21632562;22124327;2261476;22619329;22941947;23453971;23827681;24610782;24722368;24755855;25418920;25469497;25576301;25645385;25880248;25904330;26154972;26280536;26375851;26811146;26929215;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28860189;29242379;29393594;29437277;29493099;29557506;29632046;29786170;30315122;30379171;30410026;30429286;30779550;31154438;31217245;31530632;31611695;31844290;31850239;32157095;32265295;32350084;32353859;32357974;32387766;32428392;32488085;32502341;32589897;32726803;32728199;32897882;32938616;32953130;32979938;32983136;33024073;33037615;33060197;33097660;33110251;33298915;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33936100;33963333;33968037;33981976;33989516;33990585;34019948;34021074;34054808;34084167;34110168;34166398;34171305;34239064;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34597346;35051231;35102342;35580925;35643212;35843886;36010968;37051252;37115387;37938771;37956198;39178114;9008162;9380723;9463386;9541017;9660935;9668046;9689078;9822609", "class_list": "", "function": "E3 ubiquitin-protein ligase. Mediates 'Lys-63'-linked polyubiquitination of the innate immune receptor RIGI, this linkage doesn't lead to proteasomal degradation but seems to enhance IFN induction., [UniProtKB, PubMed]; SARS-CoV-2 Nsp8 suppresses MDA5 antiviral immune responses by impairing TRIM4-mediated K63-linked polyubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM4 Expression Related to Malignant Progression and Cisplatin Resistance in Osteosarcoma., [RefSeq, PubMed]; TRIM4 interacts with TRPM8 and regulates its channel function through K423-mediated ubiquitination., [RefSeq, PubMed]; The E3 Ligase TRIM4 Facilitates SET Ubiquitin-Mediated Degradation to Enhance ER-alpha Action in Breast Cancer., [RefSeq, PubMed]; The TRIM4 E3 ubiquitin ligase degrades TPL2 and is modulated by oncogenic KRAS., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternatively spliced transcript variants that encode different isoforms have been described.[provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D298;Q75MK1;Q96F06;Q9C036", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "3.4.22.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.61", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.4.22.63", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.63", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045087 innate immune response;GO:0016567 protein ubiquitination;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "Q9C037-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UW68-1", "uniprot_id": [ { "id": "TM205_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UW68", "type": "external" } ], "mass": 21198.0, "length": 189, "protein_name": "Transmembrane protein 205", "gene_name": "TMEM205", "organism": "Human", "refseq_name": "transmembrane protein 205", "refseq_ac": [ { "id": "NP_001138888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138888", "type": "external" } ], "gene_names_uniprotkb": "TMEM205; PRO1018", "gene_names_refseq": "TMEM205; UNQ501", "protein_names_uniprotkb": "Transmembrane protein 205", "protein_names_refseq": "MBC3205; transmembrane protein 205", "tax_id": 9606, "disease": "", "pathway": " (hsa:374882)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;12975309;20589834;23481700;24643204;24715725;26154972;26811146;27920218;28218747;28228285;28834231;29393594;29437277;29632046;30315122;31154438;31530632;31844290;31848261;32157095;32265295;32357974;32789331;32897882;32938616;33141586;33592498;33912179;33968037;34171305;34509645;34932366;35051231;35154160;36241641;36284347", "class_list": "", "function": "A recombinant platform to characterize the role of transmembrane protein hTMEM205 in Pt(II)-drug resistance and extrusion., [RefSeq, PubMed]; In cancer cells, plays a role in resistance to the chemotherapeutic agent cisplatin., [UniProtKB, PubMed]; Results indicate that a novel mechanism for cisplatin resistance is mediated by TMEM205 overexpression., [RefSeq, PubMed]; The genetic polymorphisms in OCT2, AQP2, AQP9 and TMEM205 may contribute to chemotherapy response in lung cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q6UW68-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N584-1", "uniprot_id": [ { "id": "TT39C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N584", "type": "external" } ], "mass": 65870.0, "length": 583, "protein_name": "Tetratricopeptide repeat protein 39C", "gene_name": "TTC39C", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 39C isoform 1", "refseq_ac": [ { "id": "NP_001129465", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129465", "type": "external" } ], "gene_names_uniprotkb": "TTC39C; C18orf17", "gene_names_refseq": "C18orf17; HsT2697; TTC39C", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 39C; TPR repeat protein 39C", "protein_names_refseq": "TPR repeat protein 39C; tetratricopeptide repeat protein 39C isoform 1; tetratricopeptide repeat protein 39C", "tax_id": 9606, "disease": "", "pathway": " (hsa:125488)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "10.1101/2023.09.13.557529;11237011;23481700;23783831;24366607;24714562;24715725;25576301;25645385;25880248;26375851;26728094;26992070;27846572;28218747;28228285;28832583;28834231;28904123;29437277;29508533;29557506;29632046;29786170;30315122;30429286;30524438;30833945;31217245;31222486;31264924;31530632;31844290;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33691108;33717175;33912179;33981976;34087483;34171305;34211107;34357683;35051231;35580925;36010968;36284347;36303158", "class_list": "", "function": "Single Nucleotide Polymorphism in the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity., [RefSeq, PubMed]; Ttc39c is a potential target for the treatment of lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7WP63;J3QRR1;Q0VAJ2;Q8N284", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0032474 otolith morphogenesis;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q8N584-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53S58-1", "uniprot_id": [ { "id": "TM177_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53S58", "type": "external" } ], "mass": 33760.0, "length": 311, "protein_name": "Transmembrane protein 177", "gene_name": "TMEM177", "organism": "Human", "refseq_name": "transmembrane protein 177", "refseq_ac": [ { "id": "NP_001098668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098668", "type": "external" } ], "gene_names_uniprotkb": "TMEM177", "gene_names_refseq": "TMEM177", "protein_names_uniprotkb": "Transmembrane protein 177", "protein_names_refseq": "transmembrane protein 177", "tax_id": 9606, "disease": "", "pathway": " (hsa:80775); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "11237011;19503089;22342701;23125284;23260140;23345593;23481700;23746447;24403053;24715725;25576301;25926683;25959673;26154972;26321642;26992070;27693358;27893789;28082314;28199844;28218747;28228285;28330871;28832583;28834231;28904123;29154948;29242379;29437277;30315122;30779550;31536960;31844290;32157095;32161166;32317297;32375044;32938616;33141586;33298915;33717175;33936100;33981976;34171305;34211107;34969438;35051231;35750769;9843204", "class_list": "", "function": "Data shows that by unbalancing the amount of TMEM177, newly synthesized COX2 accumulates in a COX20-associated state., [RefSeq, PubMed]; Plays a role in the early steps of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation and is required for the stabilization of COX20 and the newly synthesized MT-CO2/COX2 protein., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BT20", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q53S58-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRJ4-1", "uniprot_id": [ { "id": "TULP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRJ4", "type": "external" } ], "mass": 169000.0, "length": 1543, "protein_name": "Tubby-related protein 4", "gene_name": "TULP4", "organism": "Human", "refseq_name": "tubby-related protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001007467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007467", "type": "external" } ], "gene_names_uniprotkb": "TULP4; KIAA1397; TUBL4; TUSP", "gene_names_refseq": "TULP4; TUSP", "protein_names_uniprotkb": "Tubby-related protein 4; Tubby superfamily protein; Tubby-like protein 4", "protein_names_refseq": "tubby like protein 4; tubby super-family protein; tubby superfamily protein; tubby-related protein 4 isoform 2; tubby-related protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:56995); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 149, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11595174;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23186163;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24066709;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25576301;25645385;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27600516;28115426;28228285;28514659;28832583;28834231;29153394;29242379;29351928;29557506;29786170;29789417;30315122;30410026;30429286;30484775;30610225;30779550;31844290;32005965;32157095;32284348;32357974;32387766;32488085;32938616;33298915;33444648;33537174;33592498;33912179;34087483;34171305;34185709;34357683;34561969;35051231;35254053;35580925;36010968;37938771;38115643;9790970;9887101;9891082", "class_list": "", "function": "Effects of Tulp4 deficiency on murine embryonic development and adult phenotype., [RefSeq, PubMed]; In Philippines families, overtransmission of alleles to persons born with CL+/-P. Results : We found statistical evidence of association between a marker of TULP4 (rs651333) with CL+/-P (P = .00007). Conclusions : Our results further support the linkage results for the chromosome 6q region and reveal a novel candidate gene for CL+/-P., [RefSeq, PubMed]; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5T3M2;Q5T3M3;Q9HD22;Q9P2F0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q9NRJ4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75888-1", "uniprot_id": [ { "id": "TNF13_HUMAN", "url": "https://www.uniprot.org/uniprot/O75888", "type": "external" } ], "mass": 27433.0, "length": 250, "protein_name": "Tumor necrosis factor ligand superfamily member 13", "gene_name": "TNFSF13", "organism": "Human", "refseq_name": "tumor necrosis factor ligand superfamily member 13 isoform zeta", "refseq_ac": [ { "id": "NP_001185552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552", "type": "external" } ], "gene_names_uniprotkb": "TNFSF13; APRIL; PRO715; TALL2; ZTNF2", "gene_names_refseq": "APRIL; CD256; TALL-2; TALL2; TNFSF13; TNLG7B; TRDL-1; UNQ383/PRO715; ZTNF2", "protein_names_uniprotkb": "Tumor necrosis factor ligand superfamily member 13; A proliferation-inducing ligand; APRIL; TALL-2; TNF- and APOL-related leukocyte expressed ligand 2; TNF-related death ligand 1; TRDL-1", "protein_names_refseq": "TNF- and APOL-related leukocyte expressed ligand 2; a proliferation-inducing ligand; tumor necrosis factor (ligand) superfamily, member 13; tumor necrosis factor ligand 7B; tumor necrosis factor ligand superfamily member 13 isoform zeta; tumor necrosis factor superfamily member 13; tumor necrosis factor-like protein ZTNF2; tumor necrosis factor-related death ligand-1", "tax_id": 9606, "disease": "B-lymphoblastic leukemia/lymphoma (Disease Ontology:DOID:0080630)", "pathway": " (hsa:8741); (R-HSA-450520); (R-HSA-5669034)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;10074428;10331498;10359578;10398604;10484778;10597252;10615125;10706119;10973284;11018049;11237011;11571266;11834731;11882293;11911831;12189164;12411489;12949498;12975309;14656435;14981256;15257295;15356117;15470070;16484227;16501042;1655907;17178712;17392515;17517897;17632511;18285462;18571443;18606301;19130553;20032458;20086103;20222921;20307208;20510730;20979233;21300286;22197273;22664871;22801960;24070496;25576301;27397612;27846572;27920218;29242379;29508533;29557506;32125861;32157095;32387766;35051231;35580925;36130130;36808499;37880158;38622929;38622979;7913952;8120384;8871664;9743536;9878548", "class_list": "", "function": "APRIL Drives a Coordinated but Diverse Response as a Foundation for Plasma Cell Longevity., [RefSeq, PubMed]; Cytokine that binds to TNFRSF13B/TACI and to TNFRSF17/BCMA. Plays a role in the regulation of tumor cell growth. May be involved in monocyte/macrophage-mediated immunological processes., [UniProtKB, PubMed]; M2 macrophage-derived paracrine factor TNFSF13 affects the fibrogenic alterations in endothelial cells and cardiac fibroblasts by mediating the NF-kappaB and Akt pathway., [RefSeq, PubMed]; Mononuclear cells from patients with rhupus are influenced by TNF in their production of gp130/sIL-6Rb and APRIL., [RefSeq, PubMed]; Spatial heterogeneity for APRIL production by eosinophils in the small intestine., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]., [RefSeq]; The transcription factor HMGB2 indirectly regulates APRIL expression and Gd-IgA1 production in patients with IgA nephropathy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 831, "biomarker_type": "", "glycan_count": 16, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MYD5;B4DVT2;Q541E1;Q5U0G8;Q96HV6;Q9P1M8;Q9P1M9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0005164 tumor necrosis factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0002260 lymphocyte homeostasis;GO:0006955 immune response;GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0030890 positive regulation of B cell proliferation", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "O75888-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6EMB2-1", "uniprot_id": [ { "id": "TTLL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6EMB2", "type": "external" } ], "mass": 143577.0, "length": 1281, "protein_name": "Tubulin polyglutamylase TTLL5", "gene_name": "TTLL5", "organism": "Human", "refseq_name": "tubulin polyglutamylase TTLL5", "refseq_ac": [ { "id": "NP_055887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055887", "type": "external" } ], "gene_names_uniprotkb": "TTLL5; KIAA0998; STAMP", "gene_names_refseq": "CORD19; KIAA0998; STAMP; TTLL5", "protein_names_uniprotkb": "Tubulin polyglutamylase TTLL5; 6.3.2.-; SRC1 and TIF2-associated modulatory protein; STAMP protein; Tubulin--tyrosine ligase-like protein 5", "protein_names_refseq": "SRC1 and TIF2 associated binding protein; SRC1 and TIF2-associated modulatory protein; tubulin polyglutamylase TTLL5; tubulin tyrosine ligase-like family, member 5", "tax_id": 9606, "disease": "cone-rod dystrophy 19 (Disease Ontology:DOID:0111025)", "pathway": " (hsa:23093); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "11230166;11237011;1520276;15890843;16901895;17116691;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20374646;20519502;21074048;22493317;23358242;23481700;24397554;24714562;24715725;24791901;25103237;25468068;25576301;25957412;25959773;26728094;26992070;27600516;28228285;28832583;28834231;28904123;29146868;29242379;29393594;29493099;29508533;29557506;29786170;29789417;30059200;30517872;30779550;30833945;31154438;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33537174;33717175;33912179;33968037;34171305;34185709;34203883;34405274;34509645;34932366;35051231;35318648;35365235;35513511;35580925;36010968;36445968;37938771;38264610;39894887;7452228", "class_list": "", "function": "Binding of CSAP to TTLL5 promotes relocalization of TTLL5 toward microtubules., [RefSeq, PubMed]; Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series. Publication Status: Online-Only, [RefSeq, PubMed]; Impaired glutamylation of RPGR[ORF15] underlies the cone-dominated phenotype associated with truncating distal ORF15 variants., [RefSeq, PubMed]; Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy. Publication Status: Online-Only, [RefSeq, PubMed]; Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; Polyglutamylase which modifies tubulin, generating polyglutamate side chains on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin. Preferentially mediates ATP-dependent initiation step of the polyglutamylation reaction over the elongation step. Preferentially modifies the alpha-tubulin tail over a beta-tail (By similarity). Required for CCSAP localization to both polyglutamylated spindle and cilia microtubules (PubMed:22493317). Increases the effects of transcriptional coactivator NCOA2/TIF2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction (PubMed:17116691)., [UniProtKB, UniProtKB, PubMed, PubMed]; STAMP is an important new, downstream component of GR action in both gene activation and gene repression., [RefSeq, PubMed]; This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]., [RefSeq]; This study indicates that a physiological function of STAMP in several settings is to modify cell growth rates in a manner that can be independent of steroid hormones. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 57, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B9EGH8;B9EGH9;Q9BUB0;Q9H0G4;Q9H7W2;Q9P1V5;Q9UPZ4", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "6.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.-", "type": "external" }, { "id": "6.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.-.-.-", "type": "external" } ], "go_molecular_function": "GO:0070740 tubulin-glutamic acid ligase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0015631 tubulin binding;GO:0106437 protein-glutamic acid ligase activity, initiating", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0036064 ciliary basal body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0060041 retina development in camera-type eye;GO:0018095 protein polyglutamylation;GO:0007288 sperm axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q6EMB2-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGA9-1", "uniprot_id": [ { "id": "TM202_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGA9", "type": "external" } ], "mass": 31353.0, "length": 273, "protein_name": "Transmembrane protein 202", "gene_name": "TMEM202", "organism": "Human", "refseq_name": "transmembrane protein 202", "refseq_ac": [ { "id": "NP_001073931", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073931", "type": "external" } ], "gene_names_uniprotkb": "TMEM202", "gene_names_refseq": "TMEM202", "protein_names_uniprotkb": "Transmembrane protein 202", "protein_names_refseq": "transmembrane protein 202", "tax_id": 9606, "disease": "", "pathway": " (hsa:338949)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;26992070", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NGA9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IK0-1", "uniprot_id": [ { "id": "TM101_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IK0", "type": "external" } ], "mass": 28795.0, "length": 257, "protein_name": "Transmembrane protein 101", "gene_name": "TMEM101", "organism": "Human", "refseq_name": "transmembrane protein 101 isoform b", "refseq_ac": [ { "id": "NP_001291742", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291742", "type": "external" } ], "gene_names_uniprotkb": "TMEM101", "gene_names_refseq": "TMEM101", "protein_names_uniprotkb": "Transmembrane protein 101; Putative NF-kappa-B-activating protein 130", "protein_names_refseq": "putative NF-kappa-B-activating protein 130; transmembrane protein 101 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:84336)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;12761501;20532202;24958902;28218747;28904123;29393594;29557506;29632046;31217245;31844290;32157095;32387766;32938616;33141586;33392160;33912179;33936100;33968037;34509645;35051231", "class_list": "", "function": "May activate NF-kappa-B signaling pathways., [UniProtKB, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9N6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q96IK0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3G9-1", "uniprot_id": [ { "id": "TM130_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3G9", "type": "external" } ], "mass": 48329.0, "length": 435, "protein_name": "Transmembrane protein 130", "gene_name": "TMEM130", "organism": "Human", "refseq_name": "transmembrane protein 130 isoform a precursor", "refseq_ac": [ { "id": "NP_001127922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127922", "type": "external" } ], "gene_names_uniprotkb": "TMEM130; PRO1383", "gene_names_refseq": "TMEM130", "protein_names_uniprotkb": "Transmembrane protein 130", "protein_names_refseq": "transmembrane protein 130 isoform a precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:222865)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11256614;12975309;25892735;29769354;31154438;31217245;31844290;32350084;32983136;33141586;34162508;34207849;34763116;35051231;35580925", "class_list": "", "function": "DNA methylation-mediated down-regulation of TMEM130 promotes cell migration in breast cancer., [RefSeq, PubMed]; Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins. Publication Status: Online-Only, [RefSeq, PubMed]; The promoter aberrant methylation status of TMEM130 is associated with gastric cancer., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A4D266;B7Z364;Q8IY46;Q8N0W9;Q8N3R2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q8N3G9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A087WTH1-1", "uniprot_id": [ { "id": "TM265_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A087WTH1", "type": "external" } ], "mass": 11832.0, "length": 108, "protein_name": "Transmembrane protein 265", "gene_name": "TMEM265", "organism": "Human", "refseq_name": "transmembrane protein 265", "refseq_ac": [ { "id": "NP_001243758", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243758", "type": "external" } ], "gene_names_uniprotkb": "TMEM265", "gene_names_refseq": "IFITMD8; TMEM265", "protein_names_uniprotkb": "Transmembrane protein 265", "protein_names_refseq": "transmembrane protein 265", "tax_id": 9606, "disease": "", "pathway": " (hsa:100862671)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "28228285", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A087WTH1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43763-1", "uniprot_id": [ { "id": "TLX2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43763", "type": "external" } ], "mass": 30251.0, "length": 284, "protein_name": "T-cell leukemia homeobox protein 2", "gene_name": "TLX2", "organism": "Human", "refseq_name": "T-cell leukemia homeobox protein 2", "refseq_ac": [ { "id": "NP_057254", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057254", "type": "external" } ], "gene_names_uniprotkb": "TLX2; HOX11L1; NCX", "gene_names_refseq": "HOX11L1; NCX; TLX2", "protein_names_uniprotkb": "T-cell leukemia homeobox protein 2; Homeobox protein Hox-11L1; Neural crest homeobox protein", "protein_names_refseq": "T-cell leukemia homeobox protein 2; homeo box 11-like 1; homeobox protein Hox-11L1; neural crest homeobox protein", "tax_id": 9606, "disease": "intestinal pseudo-obstruction (Disease Ontology:DOID:0080072)", "pathway": " (hsa:3196)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10446220;16291166;20044949;20389279;20728215;29393594;7518789", "class_list": "", "function": "Alignment of sequences obtained from rat, human, and mouse indicates that putative regulatory elements of the Hox11L1 gene are conserved in rat, mice, and humans., [RefSeq, PubMed]; NCX-TRPC channel interaction constitutes an important functional unit in receptor-mediated divalent calcium ion influx in neuronal cells., [RefSeq, PubMed]; TLX2 is an orphan homeodomain transcription factor whose expression is mainly associated with tissues derived from neural crest cells., [RefSeq, PubMed]; This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role in tumorigenesis of gastrointestinal stromal tumors. [provided by RefSeq, May 2010]., [RefSeq]; This paper describes sequencing and comparison of 5' flanking regions of the gene, and expression in several neuroblastoma cell lines, in both mouse and human., [RefSeq, PubMed]; Transcription activator that binds DNA elements with the consensus sequence 5'-CGGTAATTGG-3'. Binds DNA via its homeobox. Required for normal cell death of enteric neurons in the gastrointestinal tract. Required for normal development of the enteric nervous system, and for proper development of normal motility of the gastrointestinal tract (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9UD56;Q9UQ48", "ec_number_list": [], "go_molecular_function": "GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0048513 animal organ development", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "O43763-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01374-1", "uniprot_id": [ { "id": "TNFB_HUMAN", "url": "https://www.uniprot.org/uniprot/P01374", "type": "external" } ], "mass": 22297.0, "length": 205, "protein_name": "Lymphotoxin-alpha", "gene_name": "LTA", "organism": "Human", "refseq_name": "lymphotoxin-alpha precursor", "refseq_ac": [ { "id": "NP_000586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000586", "type": "external" } ], "gene_names_uniprotkb": "LTA; TNFB; TNFSF1", "gene_names_refseq": "LTA; LT; TNFB; TNFSF1; TNLG1E", "protein_names_uniprotkb": "Lymphotoxin-alpha; LT-alpha; TNF-beta; Tumor necrosis factor ligand superfamily member 1", "protein_names_refseq": "LT-alpha; TNF superfamily, member 1; TNF-beta; lymphotoxin-alpha precursor; tumor necrosis factor beta; tumor necrosis factor ligand 1E; tumor necrosis factor ligand superfamily member 1", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); chorioamnionitis (Disease Ontology:DOID:0050697); erythema nodosum (Disease Ontology:DOID:0080750); leprosy (Disease Ontology:DOID:1024); hypertension (Disease Ontology:DOID:10763); adult respiratory distress syndrome (Disease Ontology:DOID:11394); allergic disease (Disease Ontology:DOID:1205); Graves' disease (Disease Ontology:DOID:12361); Sjogren's syndrome (Disease Ontology:DOID:12894); typhoid fever (Disease Ontology:DOID:13258); pulmonary sarcoidosis (Disease Ontology:DOID:13406); endometrial cancer (Disease Ontology:DOID:1380); cystic fibrosis (Disease Ontology:DOID:1485); breast cancer (Disease Ontology:DOID:1612); cystitis (Disease Ontology:DOID:1679); melanoma (Disease Ontology:DOID:1909); hyperinsulinism (Disease Ontology:DOID:2018); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); high grade glioma (Disease Ontology:DOID:3070); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); cerebral infarction (Disease Ontology:DOID:3526); lung non-small cell carcinoma (Disease Ontology:DOID:3908); systemic scleroderma (Disease Ontology:DOID:418); pustulosis of palm and sole (Disease Ontology:DOID:4398); myocardial infarction (Disease Ontology:DOID:5844); dermatitis herpetiformis (Disease Ontology:DOID:8505); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); psoriatic arthritis (Disease Ontology:DOID:9008); cutaneous leishmaniasis (Disease Ontology:DOID:9111); visceral leishmaniasis (Disease Ontology:DOID:9146); mucocutaneous leishmaniasis (Disease Ontology:DOID:9155); type 2 diabetes mellitus (Disease Ontology:DOID:9352); neovascular inflammatory vitreoretinopathy (Disease Ontology:DOID:9719); type 1 diabetes mellitus (Disease Ontology:DOID:9744); leprosy, susceptibility to, 4 (MONDO:MONDO:0012595); psoriatic arthritis, susceptibility to (MONDO:MONDO:0100232)", "pathway": " (hsa:4049); (R-HSA-5668541); (R-HSA-5669034); (R-HSA-5676594)", "pathway_count": 4, "publication_count": 134, "publication_id_list": "10074428;10085077;10202016;10359578;10398604;10484778;10597252;10615125;10797013;11571266;11728344;11853672;11882293;11911831;12189164;12374738;12426569;12529173;12571250;12721620;12746914;12787562;12949498;1353024;1451807;14656435;14656967;15084608;15356117;15368291;15470070;15585864;15644327;15824857;16293872;16501042;1655907;1670638;1671667;1733919;17353895;17632511;17636564;18446792;18571443;18606301;18635759;18997792;18997794;19241374;19426221;19815541;20032458;20222921;20307208;20385556;20483727;20510730;20979233;21081755;21091114;21300286;22197273;22645359;22664871;22801960;23667509;24070496;24248355;24298274;24432023;24714562;24715725;25152365;25418920;25502872;25802875;26154972;26375851;26728094;26929215;27846572;28228285;28446606;28467828;28514659;28832583;28904123;29242379;29393594;29508533;29557506;29769354;3001109;30315122;31844290;32350084;32357974;33141586;33298915;33392160;33717175;33912179;33936100;34078123;34357683;34433824;34561969;34932366;35154160;3536896;3555974;36430258;36802017;36929286;6334807;7544915;7639698;7913952;8120384;8323280;8387891;8499947;8521496;8663299;8702708;8871664;9122217;9247583;9367155;9462508;9718306;9852070;9878548", "class_list": "", "function": "Association of LTA and SOD Gene Polymorphisms with Cerebral White Matter Hyperintensities in Migraine Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Combined tumor necrosis factor-alpha (-308 G/A) and tumor necrosis factor-beta (+ 252 A/G) nucleotide polymorphisms and chronicity in Egyptian children with immune thrombocytopenia., [RefSeq, PubMed]; Cytokine that in its homotrimeric form binds to TNFRSF1A/TNFR1, TNFRSF1B/TNFBR and TNFRSF14/HVEM (PubMed:9462508). In its heterotrimeric form with LTB binds to TNFRSF3/LTBR (PubMed:24248355). Lymphotoxin is produced by lymphocytes and is cytotoxic for a wide range of tumor cells in vitro and in vivo., [UniProtKB, PubMed, PubMed]; Cytokine that in its homotrimeric form binds to TNFRSF1A/TNFR1, TNFRSF1B/TNFBR and TNFRSF14/HVEM. In its heterotrimeric form with LTB binds to TNFRSF3/LTBR. Lymphotoxin is produced by lymphocytes and is cytotoxic for a wide range of tumor cells in vitro and in vivo., [UniProtKB, UniProtKB, UniProtKB]; LTA is a major gene associated with early-onset leprosy., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Prognostic significance of the genetic variant of lymphotoxin alpha (p.Thr60Asn) in egyptian patients with advanced hepatocellular carcinoma., [RefSeq, PubMed]; Single-nucleotide polymorphisms in the lymphotoxin-alpha gene are associated with susceptibility to myocardial infarction. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2003 Jan;33(1):107.], [RefSeq, PubMed]; The encoded protein, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. The protein is highly inducible, secreted, and forms heterotrimers with lymphotoxin-beta which anchor lymphotoxin-alpha to the cell surface. This protein also mediates a large variety of inflammatory, immunostimulatory, and antiviral responses, is involved in the formation of secondary lymphoid organs during development and plays a role in apoptosis. Genetic variations in this gene are associated with susceptibility to leprosy type 4, myocardial infarction, non-Hodgkin's lymphoma, and psoriatic arthritis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 39, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8N4C3;Q9UKS8", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0005164 tumor necrosis factor receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0060252 positive regulation of glial cell proliferation;GO:0036145 dendritic cell homeostasis;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "P01374-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41273-1", "uniprot_id": [ { "id": "TNFL9_HUMAN", "url": "https://www.uniprot.org/uniprot/P41273", "type": "external" } ], "mass": 26625.0, "length": 254, "protein_name": "Tumor necrosis factor ligand superfamily member 9", "gene_name": "TNFSF9", "organism": "Human", "refseq_name": "tumor necrosis factor ligand superfamily member 9", "refseq_ac": [ { "id": "NP_003802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003802", "type": "external" } ], "gene_names_uniprotkb": "TNFSF9", "gene_names_refseq": "4-1BB-L; CD137L; TNFSF9; TNLG5A", "protein_names_uniprotkb": "Tumor necrosis factor ligand superfamily member 9; 4-1BB ligand; 4-1BBL", "protein_names_refseq": "4-1BBL; CD137 ligand; homolog of mouse 4-1BB-L; receptor 4-1BB ligand; tumor necrosis factor (ligand) superfamily, member 9; tumor necrosis factor ligand 5A; tumor necrosis factor ligand superfamily member 9; tumor necrosis factor superfamily member 9", "tax_id": 9606, "disease": "multiple sclerosis (Disease Ontology:DOID:2377); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:8744); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10074428;10359578;10398604;10484778;10597252;10615125;10671200;11571266;11882293;11911831;12189164;12949498;14656435;15356117;15470070;16501042;1655907;17632511;18571443;18606301;20032458;20222921;20307208;20510730;20979233;21300286;22197273;22299025;22645359;22664871;22801960;24070496;25502872;27846572;27920218;28467828;28514659;28649982;28832583;29242379;29314611;29557506;29632046;29632711;30573663;30626607;31217245;31530632;31844290;32157095;32350084;32387766;32938616;33043033;33392160;33912179;33936100;34357683;34433824;35154160;35251023;35714694;35812455;36215666;38344886;7913952;8088337;8120384;8871664;9878548", "class_list": "", "function": "Cytokine that binds to TNFRSF9. Induces the proliferation of activated peripheral blood T-cells. May have a role in activation-induced cell death (AICD). May play a role in cognate interactions between T-cells and B-cells/macrophages., [UniProtKB, PubMed]; Ferroptosis mediated by TNFSF9 interferes in acute ischaemic stroke reperfusion injury with the progression of acute ischaemic stroke., [RefSeq, PubMed]; Galectin-3 Decreases 4-1BBL Bioactivity by Crosslinking Soluble and Membrane Expressed 4-1BB. Publication Status: Online-Only, [RefSeq, PubMed]; Role of TNFSF9 bidirectional signal transduction in antitumor immunotherapy. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This transmembrane cytokine is a bidirectional signal transducer that acts as a ligand for TNFRSF9/4-1BB, which is a costimulatory receptor molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process and in the generation of cytotoxic T cells. The receptor TNFRSF9/4-1BB is absent from resting T lymphocytes but rapidly expressed upon antigenic stimulation. The ligand encoded by this gene, TNFSF9/4-1BBL, has been shown to reactivate anergic T lymphocytes in addition to promoting T lymphocyte proliferation. This cytokine has also been shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is expressed in carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction.[provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2M3S2", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0032813 tumor necrosis factor receptor superfamily binding;GO:0005164 tumor necrosis factor receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0007267 cell-cell signaling;GO:0042981 regulation of apoptotic process;GO:0042104 positive regulation of activated T cell proliferation;GO:0045585 positive regulation of cytotoxic T cell differentiation", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "P41273-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q17RP2-1", "uniprot_id": [ { "id": "TIGD6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q17RP2", "type": "external" } ], "mass": 58656.0, "length": 521, "protein_name": "Tigger transposable element-derived protein 6", "gene_name": "TIGD6", "organism": "Human", "refseq_name": "tigger transposable element-derived protein 6 isoform 1", "refseq_ac": [ { "id": "NP_001230182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230182", "type": "external" } ], "gene_names_uniprotkb": "TIGD6", "gene_names_refseq": "TIGD6", "protein_names_uniprotkb": "Tigger transposable element-derived protein 6", "protein_names_refseq": "tigger transposable element-derived protein 6 isoform 1; tigger transposable element-derived protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:81789)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11230166;26992070;29557506;29671580;31844290;32357974;32488085;32983136;33298915;33592498;33912179;34087483;35051231;37217939;37938771", "class_list": "", "function": "The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KTZ8;Q96MQ4;Q9H0X7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q17RP2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4KMG9-1", "uniprot_id": [ { "id": "TM52B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4KMG9", "type": "external" } ], "mass": 20002.0, "length": 183, "protein_name": "Transmembrane protein 52B", "gene_name": "TMEM52B", "organism": "Human", "refseq_name": "transmembrane protein 52B isoform 2 precursor", "refseq_ac": [ { "id": "NP_001073283", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073283", "type": "external" } ], "gene_names_uniprotkb": "TMEM52B; C12orf59; PRO19821", "gene_names_refseq": "C12orf59; TMEM52B", "protein_names_uniprotkb": "Transmembrane protein 52B", "protein_names_refseq": "transmembrane protein 52B isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:120939)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;12975309;26758419;29769354;33641663", "class_list": "", "function": "Study showed that C12orf59 was broadly expressed in normal human tissues with high expression levels in kidney while its expression is beyond detectable in a panel of cancer cell lines., [RefSeq, PubMed]; TMEM52B suppression promotes cancer cell survival and invasion through modulating E-cadherin stability and EGFR activity. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96NA7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q4KMG9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53FP2-1", "uniprot_id": [ { "id": "NACHO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53FP2", "type": "external" } ], "mass": 18440.0, "length": 167, "protein_name": "Novel acetylcholine receptor chaperone", "gene_name": "TMEM35A", "organism": "Human", "refseq_name": "nicotinic acetylcholine receptor chaperone", "refseq_ac": [ { "id": "NP_067650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067650", "type": "external" } ], "gene_names_uniprotkb": "TMEM35A; NACHO; TMEM35", "gene_names_refseq": "NACHO; TMEM35A; TMEM35; TUF-1", "protein_names_uniprotkb": "Novel acetylcholine receptor chaperone", "protein_names_refseq": "nAChR regulator; nicotinic acetylcholine receptor chaperone; nicotinic acetylcholine receptor regulator; novel acetylcholine receptor chaperone; transmembrane protein 35", "tax_id": 9606, "disease": "", "pathway": " (hsa:59353)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "26875622;27789755;28445721;32204458;32676916;32783947;34446574;35051231", "class_list": "", "function": "Molecular chaperone which mediates the proper assembly and functional expression of the nicotinic acetylcholine receptors (nAChRs) throughout the brain (PubMed:26875622, PubMed:27789755, PubMed:28445721, PubMed:32204458, PubMed:32783947). Essential for the proper folding, assembly, function and surface trafficking of alpha-7 (CHRNA7), alpha-4-beta-2, alpha-3-beta-2 and alpha-3-beta-4 receptors (PubMed:26875622, PubMed:27789755, PubMed:28445721, PubMed:32204458, PubMed:32783947). Stably associates with ribophorin-1 (RPN1) and ribophorin-2 (RPN2) (components of the oligosaccharyl transferase (OST) complex) and with calnexin (CANX), both of which are critical for NACHO-mediated effects on CHRNA7 assembly and function (By similarity). Facilitates the proper folding and assembly of alpha-6-beta-2 and alpha-6-beta-2-beta-3 receptors and acts at early stages of the nAChRs subunit assembly (PubMed:28445721). Promotes the expression of the alpha-4(2):beta-2(3) stoichiometric form over the alpha-4(3):beta-2(2) form (PubMed:32676916)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NACHO and 14-3-3 promote expression of distinct subunit stoichiometries of the alpha4beta2 acetylcholine receptor., [RefSeq, PubMed]; Unbalanced Regulation of alpha7 nAChRs by Ly6h and NACHO Contributes to Neurotoxicity in Alzheimer's Disease., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9H7Y3", "ec_number_list": [], "go_molecular_function": "GO:0030548 acetylcholine receptor regulator activity", "go_cellular_component": "GO:0005778 peroxisomal membrane;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:2000010 positive regulation of protein localization to cell surface;GO:0051131 chaperone-mediated protein complex assembly", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q53FP2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T7P6-1", "uniprot_id": [ { "id": "TMM78_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T7P6", "type": "external" } ], "mass": 15193.0, "length": 136, "protein_name": "Transmembrane protein 78", "gene_name": "TMEM78", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TMEM78", "gene_names_refseq": "", "protein_names_uniprotkb": "Transmembrane protein 78", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "36240223", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8N802", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5T7P6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VZI3-1", "uniprot_id": [ { "id": "TM268_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VZI3", "type": "external" } ], "mass": 37569.0, "length": 342, "protein_name": "Transmembrane protein 268", "gene_name": "TMEM268", "organism": "Human", "refseq_name": "transmembrane protein 268 isoform 2", "refseq_ac": [ { "id": "NP_001317689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317689", "type": "external" } ], "gene_names_uniprotkb": "TMEM268; C9orf91", "gene_names_refseq": "C9orf91; TMEM268", "protein_names_uniprotkb": "Transmembrane protein 268", "protein_names_refseq": "transmembrane protein 268 isoform 2; transmembrane protein C9orf91", "tax_id": 9606, "disease": "", "pathway": " (hsa:203197)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "25576301;26154972;27920218;28832583;29242379;30361615;30524438;31844290;32157095;32387766;32938616;33912179;34357683;34509645;34561969;35051231;35580925;37217939;38730209", "class_list": "", "function": "Deletion of TMEM268 inhibits growth of gastric cancer cells by downregulating the ITGB4 signaling pathway., [RefSeq, PubMed]; Stabilizes cell surface expression of ITGAM and participates in the adhesion and migration of phagocytes during bacterial clearance., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0PJA3;Q3KNS4;Q5VZI2;Q6P5Z7;Q8N1P3;Q8ND43", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q5VZI3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IV31-1", "uniprot_id": [ { "id": "TM139_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IV31", "type": "external" } ], "mass": 23729.0, "length": 216, "protein_name": "Transmembrane protein 139", "gene_name": "TMEM139", "organism": "Human", "refseq_name": "transmembrane protein 139 precursor", "refseq_ac": [ { "id": "NP_001229702", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229702", "type": "external" } ], "gene_names_uniprotkb": "TMEM139; PRO4407", "gene_names_refseq": "TMEM139", "protein_names_uniprotkb": "Transmembrane protein 139", "protein_names_refseq": "transmembrane protein 139 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:135932)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "12975309;16303743;18669648;19773279;20068231;23186163;24715725;26049106;29557506;35051231;35302694;36215666", "class_list": "", "function": "May be involved in cellular trafficking of proteins such as SLC4A1., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Presented data demonstrate that TMEM139 interacts with kAE1 and promotes its intracellular trafficking, [RefSeq, PubMed]; TMEM139 prevents NSCLC metastasis by inhibiting lysosomal degradation of E-cadherin., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RCL5;D3DXD4;Q6ZME2;Q8NC22;Q96AU8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8IV31-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N2M4-1", "uniprot_id": [ { "id": "TM86A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N2M4", "type": "external" } ], "mass": 26398.0, "length": 240, "protein_name": "Lysoplasmalogenase TMEM86A", "gene_name": "TMEM86A", "organism": "Human", "refseq_name": "lysoplasmalogenase TMEM86A", "refseq_ac": [ { "id": "NP_699178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699178", "type": "external" } ], "gene_names_uniprotkb": "TMEM86A", "gene_names_refseq": "TMEM86A", "protein_names_uniprotkb": "Lysoplasmalogenase TMEM86A; 3.3.2.2; Transmembrane protein 86A", "protein_names_refseq": "lysoplasmalogenase TMEM86A; lysoplasmalogenase-like protein TMEM86A", "tax_id": 9606, "disease": "", "pathway": " (hsa:144110)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "29557506;29786170;31154438;32983136;35580925;36592658;37938771", "class_list": "", "function": "Catalyzes the hydrolysis of the vinyl ether bond of choline or ethanolamine lysoplasmalogens, forming fatty aldehyde and glycerophosphocholine or glycerophosphoethanolamine, respectively and is specific for the sn-2-deacylated (lyso) form of plasmalogen (PubMed:36592658). Plays an important role in lysoplasmalogen metabolism in the adipocyte tissue and macrophages (PubMed:36592658)., [UniProtKB, PubMed]; Sterol-regulated transmembrane protein TMEM86a couples LXR signaling to regulation of lysoplasmalogens in macrophages., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96AJ0", "ec_number_list": [ { "id": "3.3.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.2", "type": "external" } ], "go_molecular_function": "GO:0047408 alkenylglycerophosphocholine hydrolase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8N2M4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N816-1", "uniprot_id": [ { "id": "TMM99_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N816", "type": "external" } ], "mass": 27975.0, "length": 258, "protein_name": "Uncharacterized protein KRT10-AS1", "gene_name": "KRT10-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "KRT10-AS1; TMEM99", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein KRT10-AS1; Transmembrane protein 99", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "28904123;35051231", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DQ34;Q96BP9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N816-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9M5-1", "uniprot_id": [ { "id": "TM102_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9M5", "type": "external" } ], "mass": 54175.0, "length": 508, "protein_name": "Transmembrane protein 102", "gene_name": "TMEM102", "organism": "Human", "refseq_name": "transmembrane protein 102", "refseq_ac": [ { "id": "NP_001307373", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307373", "type": "external" } ], "gene_names_uniprotkb": "TMEM102", "gene_names_refseq": "CBAP; D2B; TMEM102", "protein_names_uniprotkb": "Transmembrane protein 102; CBAP; Common beta-chain associated protein", "protein_names_refseq": "DANGER family member 2B; common beta-chain associated protein; transmembrane protein 102", "tax_id": 9606, "disease": "", "pathway": " (hsa:284114)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "17828305;23481700;23620790;24715725;25576301;25645385;26992070;28228285;28832583;29242379;29393594;29493099;29557506;29632711;29789417;30266989;30833945;31844290;31848261;31998317;32157095;32387766;32502341;32897882;32938616;32983136;33141586;33968037;34087483;34171305;34509645;35051231;37949232;39531497", "class_list": "", "function": "CBAP indeed can function as a novel signaling component within the ZAP70/Vav1/talin complex and plays an important role in regulating chemokine-promoted T-cell trafficking. Publication Status: Online-Only, [RefSeq, PubMed]; CBAP regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling. Erratum:[J Biol Chem. 2024 Feb;300(2):105686. doi: 10.1016/j.jbc.2024.105686. PMID: 38290174], [RefSeq, PubMed]; Modulates granulocyte-macrophage colony-stimulating factor-deprivation-induced apoptosis possibly via a novel mechanism involving interaction with an unliganded cytokine receptor common beta subunit molecule. GeneRIF: CBAP (Common receptor Beta chain Associating Protein) is a putative transmembrane protein which associates preferentially with unliganded GM-CSFR beta chain. It functions as a pro-apoptotic protein and is widely expressed in various cell types., [RefSeq, PubMed]; Our findings reveal a novel oncogenic contribution of CBAP in T-ALL leukemic cells, in addition to its original pro-apoptotic function in cytokine-dependent cell lines and primary hematopoietic cells, by demonstrating its functional role in the regulation of Akt-TSC2-mTORC1 signaling for leukemia cell proliferation. Thus, CBAP represents a novel therapeutic target for many types of cancers and metabolic diseases, [RefSeq, PubMed]; Selectively involved in CSF2 deprivation-induced apoptosis via a mitochondria-dependent pathway., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DTP8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0032991 protein-containing complex", "go_biological_process": "GO:0007165 signal transduction;GO:0045785 positive regulation of cell adhesion;GO:2000406 positive regulation of T cell migration;GO:0006915 apoptotic process;GO:0034097 response to cytokine", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q8N9M5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WZ71-1", "uniprot_id": [ { "id": "TM158_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WZ71", "type": "external" } ], "mass": 30404.0, "length": 300, "protein_name": "Transmembrane protein 158", "gene_name": "TMEM158", "organism": "Human", "refseq_name": "transmembrane protein 158 precursor", "refseq_ac": [ { "id": "NP_056259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056259", "type": "external" } ], "gene_names_uniprotkb": "TMEM158; HBBP; RIS1", "gene_names_refseq": "BBP; RIS1; TMEM158; p40BBP", "protein_names_uniprotkb": "Transmembrane protein 158; 40 kDa BINP-binding protein; Ras-induced senescence protein 1; p40BBP", "protein_names_refseq": "40 kDa BINP-binding protein; BINP receptor; Ras induced senescence 1; brain injury-derived neurotrophic peptide (BINP) binding protein; brain specific binding protein; transmembrane protein 158 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:25907)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "10.1101/2023.09.13.557529;11822868;20112406;25502872;25576301;27846572;28832583;29093164;29242379;29557506;29786170;30429286;31389251;31531884;31844290;31848261;32488085;32983136;33428142;33592498;34992215;35051231;38508329", "class_list": "", "function": "Constitutive activation of the Ras pathway triggers an irreversible proliferation arrest reminiscent of replicative senescence. Transcription of this gene is upregulated in response to activation of the Ras pathway, but not under other conditions that induce senescence. The encoded protein is similar to a rat cell surface receptor proposed to function in a neuronal survival pathway. An allelic polymorphism in this gene results in both functional and non-functional (frameshifted) alleles; the reference genome represents the functional allele. [provided by RefSeq, Jul 2015]., [RefSeq]; Receptor for brain injury-derived neurotrophic peptide (BINP), a synthetic 13-mer peptide., [UniProtKB]; Silencing of TMEM158 Inhibits Tumorigenesis and Multidrug Resistance in Colorectal Cancer., [RefSeq, PubMed]; TMEM158 May Serve as a Diagnostic Biomarker for Anaplastic Thyroid Carcinoma: An Integrated Bioinformatic Analysis., [RefSeq, PubMed]; TMEM158 functions as an oncogene and promotes lung adenocarcinoma progression through the PI3K/AKT pathway via interaction with TWIST1., [RefSeq, PubMed]; TMEM158 promotes pancreatic cancer aggressiveness by activation of TGFbeta1 and PI3K/AKT signaling pathway., [RefSeq, PubMed]; TMEM158 promotes the proliferation and migration of glioma cells via STAT3 signaling in glioblastomas. Erratum:[Cancer Gene Ther. 2024 Mar;31(3):495-496. doi: 10.1038/s41417-024-00733-3. PMID: 38272983], [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 9890, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6PFW5;Q9Y4M1", "ec_number_list": [], "go_molecular_function": "GO:0042277 peptide binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8WZ71-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969K7-1", "uniprot_id": [ { "id": "TMM54_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969K7", "type": "external" } ], "mass": 23772.0, "length": 222, "protein_name": "Transmembrane protein 54", "gene_name": "TMEM54", "organism": "Human", "refseq_name": "transmembrane protein 54 isoform 3", "refseq_ac": [ { "id": "NP_001316652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316652", "type": "external" } ], "gene_names_uniprotkb": "TMEM54; BCLP; CAC1", "gene_names_refseq": "BCLP; CAC-1; CAC1; TMEM54", "protein_names_uniprotkb": "Transmembrane protein 54; Beta-casein-like protein; Protein CAC-1", "protein_names_refseq": "beta-casein-like protein; cervical adenocarcinoma cell line 1 cDNA; protein CAC-1; transmembrane protein 54 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:113452)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11394883;24715725;30779550;32157095;32983136;33537174;34185709;34357683;35051231;36010968;38169186;9500206", "class_list": "", "function": "MicroRNA-148a-3p suppresses the glycolysis and Cell proliferation by targeting transmembrane protein 54 in liver cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6UV18;Q8IVD0;Q9UM12", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q969K7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969S6-1", "uniprot_id": [ { "id": "TM203_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969S6", "type": "external" } ], "mass": 15760.0, "length": 136, "protein_name": "Transmembrane protein 203", "gene_name": "TMEM203", "organism": "Human", "refseq_name": "transmembrane protein 203", "refseq_ac": [ { "id": "NP_444273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_444273", "type": "external" } ], "gene_names_uniprotkb": "TMEM203", "gene_names_refseq": "HBEBP1; TMEM203", "protein_names_uniprotkb": "Transmembrane protein 203", "protein_names_refseq": "HBeAg-binding protein 1; transmembrane protein 203", "tax_id": 9606, "disease": "", "pathway": " (hsa:94107)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "25996873;28218747;30315122;30484775;31346090;34357683", "class_list": "", "function": "Identification of TMEM203 sheds light into the control of STING-mediated innate immune responses., [RefSeq, PubMed]; Involved in the regulation of cellular calcium homeotasis (PubMed:25996873). Required for spermatogenesis (PubMed:25996873). Acts as a regulator of STING-mediated inflammatory signaling in macrophages (PubMed:31346090). Forms a complex with STING, promoting the activity of TBK1 kinase and the transcription factor IRF3, leading to activation of type I interferon expression (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Tmem203 is an evolutionarily conserved regulator of cellular calcium homeostasis, is required for spermatogenesis and provides a causal link between intracellular calcium regulation and spermiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6NW08", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005793 endoplasmic reticulum-Golgi intermediate compartment", "go_biological_process": "GO:0007283 spermatogenesis;GO:0006874 intracellular calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q969S6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96I45-1", "uniprot_id": [ { "id": "TM141_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96I45", "type": "external" } ], "mass": 11875.0, "length": 108, "protein_name": "Transmembrane protein 141", "gene_name": "TMEM141", "organism": "Human", "refseq_name": "transmembrane protein 141", "refseq_ac": [ { "id": "NP_116317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116317", "type": "external" } ], "gene_names_uniprotkb": "TMEM141", "gene_names_refseq": "TMEM141", "protein_names_uniprotkb": "Transmembrane protein 141", "protein_names_refseq": "transmembrane protein 141", "tax_id": 9606, "disease": "", "pathway": " (hsa:85014)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "22609626;24715725;25418920;25645385;26154972;26929215;26992070;28218747;28228285;28834231;28904123;29242379;29331515;29393594;29437277;29557506;29789417;30315122;30410026;30779550;31154438;31217245;31844290;31848261;32157095;32357974;32983136;33537174;33912179;34185709;35051231;35561310;35580925;36010968;36241641;37837560;37938771", "class_list": "", "function": "Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NIZ7;Q5T5R5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q96I45-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1K6-1", "uniprot_id": [ { "id": "TLRN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1K6", "type": "external" } ], "mass": 37758.0, "length": 362, "protein_name": "Talin rod domain-containing protein 1", "gene_name": "TLNRD1", "organism": "Human", "refseq_name": "talin rod domain-containing protein 1", "refseq_ac": [ { "id": "NP_072088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072088", "type": "external" } ], "gene_names_uniprotkb": "TLNRD1; MESDC1", "gene_names_refseq": "MESDC1; TLNRD1", "protein_names_uniprotkb": "Talin rod domain-containing protein 1; Mesoderm development candidate 1", "protein_names_refseq": "mesoderm development candidate 1; talin rod domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:59274)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11247670;22179486;24366607;24715725;25645385;25892735;26992070;27600516;28834231;30524438;31844290;31937595;32357974;32897882;32938616;33141586;33298915;33392160;34264272;34357683;36010968;36241641", "class_list": "", "function": "Actin-binding protein which may have an oncogenic function and regulates cell proliferation, migration and invasion in cancer cells., [UniProtKB, PubMed]; Authors demonstrate that miR-574-3p is a miRNA with tumor suppressor function and that MESDC1 (which has a potential oncogenic function in BC) may be targeted by miR-574-3p., [RefSeq, PubMed]; Talin rod domain-containing protein 1 (TLNRD1) is a novel actin-bundling protein which promotes filopodia formation., [RefSeq, PubMed]; This gene encodes a protein that is regulated by micro RNA MiR-574-3, and is thought to have an oncogenic function in human bladder cancer. A similar gene in mouse is located in a chromosomal region critical for differentiation of mesoderm, which affects embryo patterning and the formation of heart, muscle, blood, skeleton and the urogenital system. The mouse gene is expressed in early development, and in the adult. [provided by RefSeq, Nov 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0001725 stress fiber", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9H1K6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYK1-1", "uniprot_id": [ { "id": "TLR7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYK1", "type": "external" } ], "mass": 120922.0, "length": 1049, "protein_name": "Toll-like receptor 7", "gene_name": "TLR7", "organism": "Human", "refseq_name": "toll-like receptor 7 precursor", "refseq_ac": [ { "id": "NP_057646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057646", "type": "external" } ], "gene_names_uniprotkb": "TLR7; PRO285", "gene_names_refseq": "IMD74; SLEB17; TLR7-like; TLR7", "protein_names_uniprotkb": "Toll-like receptor 7", "protein_names_refseq": "toll-like receptor 7 precursor; toll-like receptor 7-like", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); severe COVID-19 (Disease Ontology:DOID:0081013); X-Linked immunodeficiency 74 (Disease Ontology:DOID:0112063); anogenital venereal wart (Disease Ontology:DOID:11168); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); alcohol use disorder (Disease Ontology:DOID:1574); asthma (Disease Ontology:DOID:2841); atopic dermatitis (Disease Ontology:DOID:3310); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); systemic lupus erythematosus (Disease Ontology:DOID:9074); systemic lupus erythematosus 17 (MONDO:MONDO:0859083)", "pathway": " (hsa:51284); (R-HSA-1679131); (R-HSA-168181); (R-HSA-5686938); (R-HSA-9679191); (R-HSA-9692916); (R-HSA-9705671); (R-HSA-975110); (R-HSA-975138); (R-HSA-975155); (R-HSA-9824856); (R-HSA-9833110)", "pathway_count": 12, "publication_count": 273, "publication_id_list": "10087012;10411278;11022119;11022120;11073981;11509636;11607032;11724772;11812998;11960013;12019269;12032557;12110890;12138165;12140561;12214235;12297423;12447442;12692549;12738885;12759408;12817025;12975309;14625308;14716310;14976261;14976262;15208624;15226270;15361868;15492225;15767370;16024789;16115318;16213021;16286015;16415873;16522641;16754682;16834340;16855214;16857668;16878026;16973841;17035307;17141195;17270291;17275357;17412287;17452530;17485511;17596301;17662961;17761676;17767165;17890055;18070982;18082565;18166152;18250417;18305481;18354232;18420935;18438411;18509083;18559343;18710948;18794297;18820679;18931679;18990700;19079358;19112167;19224918;19380580;19398035;19451267;19537370;19592493;19924287;19965672;20037584;20223979;20410276;20473308;20485341;20855885;20865800;20966070;21398612;21402738;21604257;21871094;22046132;22090124;22164301;22223641;22253733;22312431;22344226;22401777;22489132;22552008;22814904;22941947;23123977;23446148;23481700;23483519;23641311;23719902;24190977;24272870;24342772;24366607;24509444;24584101;24622840;24715725;24833748;24854014;24855048;25135833;25418920;25502872;25576301;25764917;25801024;25854864;25880347;25892735;25907116;26002965;26320399;26375851;26378163;26556041;26811146;26929215;27073632;27164085;27203180;27347137;27387373;27742543;27846572;27920218;28148787;28218747;28228285;28425720;28467828;28514659;28832583;28834231;28904123;29152046;29242379;29294448;29393594;29508533;29557506;29632046;29632711;29786170;29945920;30185776;30201761;30315122;30410026;30429286;30573663;31034780;31048504;31092671;31154438;31231549;31283223;31608988;31844290;31848261;31850239;31998317;32002290;32157095;32265295;32350084;32353859;32357974;32387766;32428392;32433612;32488085;32502341;32589897;32706371;32726803;32728199;32953130;32979938;33024073;33060197;33097660;33110251;33141586;33298915;33349665;33360543;33372174;33372854;33396605;33432245;33440148;33479219;33495715;33514628;33567255;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33989516;33990585;34021074;34054808;34078123;34084167;34110168;34166398;34211107;34239064;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34597346;34932366;35051231;35102342;35154160;35477763;35580925;35643212;36102648;36284347;36581221;37051252;37074911;37938771;38683985;38697119;38850110;38944683;39112700;7685021;8344253;8837778;9430229;9799232;9989503", "class_list": "", "function": "Endosomal receptor that plays a key role in innate and adaptive immunity (PubMed:14976261, PubMed:32433612). Controls host immune response against pathogens through recognition of uridine-containing single strand RNAs (ssRNAs) of viral origin or guanosine analogs (PubMed:12738885, PubMed:27742543, PubMed:31608988, PubMed:32706371, PubMed:35477763). Upon binding to agonists, undergoes dimerization that brings TIR domains from the two molecules into direct contact, leading to the recruitment of TIR-containing downstream adapter MYD88 through homotypic interaction (PubMed:27742543). In turn, the Myddosome signaling complex is formed involving IRAK4, IRAK1, TRAF6, TRAF3 leading to activation of downstream transcription factors NF-kappa-B and IRF7 to induce pro-inflammatory cytokines and interferons, respectively (PubMed:27742543, PubMed:32706371). In plasmacytoid dendritic cells, RNASET2 endonuclease cooperates with PLD3 or PLD4 5'->3' exonucleases to process RNA and release 2',3'-cyclic guanosine monophosphate (2',3'-cGMP) and cytidine-rich RNA fragments that occupy TLR7 ligand-binding pockets and trigger a signaling-competent state., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Impact of TLR9 and TLR7 gene polymorphisms on prognosis and survival of patients with oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Neuronal substance P drives metastasis through an extracellular RNA-TLR7 axis., [RefSeq, PubMed]; Stratified analyses refine association between TLR7 rare variants and severe COVID-19., [RefSeq, PubMed]; The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. The human TLR family comprises 11 members. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. For the recognition of structural components in foreign microorganisms, the various TLRs exhibit different patterns of expression as well; in this way for example, TLR-3, -7, and -8 are essential in the recognition of single-stranded RNA viruses. TLR7 senses single-stranded RNA oligonucleotides containing guanosine- and uridine-rich sequences from RNA viruses, a recognition occuring in the endosomes of plasmacytoid dendritic cells and B cells. This gene is predominantly expressed in lung, placenta, and spleen, and is phylogenetically related and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Aug 2020]., [RefSeq]; The tRNA[Val] half: A strong endogenous Toll-like receptor 7 ligand with a 5'-terminal universal sequence signature., [RefSeq, PubMed]", "predicted_glycosites": 11, "predicted_n_glycosites": 11, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 3, "disease_count": 13, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "D1CS69;Q9NR98", "ec_number_list": [], "go_molecular_function": "GO:0003725 double-stranded RNA binding;GO:0003727 single-stranded RNA binding;GO:0035197 siRNA binding;GO:0038187 pattern recognition receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0032727 positive regulation of interferon-alpha production;GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 28.0, "record_id": "Q9NYK1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2S6-1", "uniprot_id": [ { "id": "TMA7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2S6", "type": "external" } ], "mass": 7066.0, "length": 64, "protein_name": "Translation machinery-associated protein 7", "gene_name": "TMA7", "organism": "Human", "refseq_name": "translation machinery-associated protein 7 isoform 1", "refseq_ac": [ { "id": "NP_057017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057017", "type": "external" } ], "gene_names_uniprotkb": "TMA7; CCDC72; HSPC016; HSPC330", "gene_names_refseq": "CCDC72; HSPC016; TMA7", "protein_names_uniprotkb": "Translation machinery-associated protein 7; Coiled-coil domain-containing protein 72", "protein_names_refseq": "coiled-coil domain containing 72; coiled-coil domain-containing protein 72; translation machinery-associated protein 7 isoform 1; translation machinery-associated protein 7; translational machinery associated 7 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:51372)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "15740594;16096800;22571579;24714562;26992070;28190768;29493099;29557506;31611695;32938616;32983136;34019948;34357683;35051231;35561310;38665916", "class_list": "", "function": "Dermal papillae cells (DPC) lose aggregate behavior and grow much slower after HSPC016 gene inhibition. Recombinant HSPC016 protein promoted the proliferation of high-passage DPC and induced aggregative behaviour., [RefSeq, PubMed]; Expression of gene HSPCO16 resulted in the apoptosis of these cells, which suggested that the apoptosis of dermal papilla cells might be associated with the expression of gene HSPC016 in vitro., [RefSeq, PubMed]; HSPC016 was was differentially expressed in dermal papilla cells with aggregative behavior., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9P052", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9Y2S6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5L0-2", "uniprot_id": [ { "id": "TNPO3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5L0", "type": "external" } ], "mass": 104203.0, "length": 923, "protein_name": "Transportin-3", "gene_name": "TNPO3", "organism": "Human", "refseq_name": "transportin-3 isoform 2", "refseq_ac": [ { "id": "NP_001177957", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177957", "type": "external" } ], "gene_names_uniprotkb": "TNPO3; IPO12", "gene_names_refseq": "IPO12; LGMD1F; LGMDD2; MTR10A; TNPO3; TRN-SR2; TRN-SR; TRNSR", "protein_names_uniprotkb": "Transportin-3; Imp12; Importin-12; TRN-SR; Transportin-SR", "protein_names_refseq": "imp12; importin 12; limb girdle muscular dystrophy 1F (autosomal dominant); transportin-3 isoform 2; transportin-SR", "tax_id": 9606, "disease": "autosomal dominant limb-girdle muscular dystrophy type 2 (Disease Ontology:DOID:0110304); susceptibility to HIV infection (MONDO:MONDO:0004951)", "pathway": " (hsa:23534)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "10366588;10713112;11517331;12134081;12628928;18722123;19690332;21901095;22398280;22617051;23186163;23481700;23543484;23667635;23878195;24449914;24715725;24915079;25418920;25576301;25892735;26154972;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28356354;28446606;28510447;28832583;28834231;28904123;29242379;29329553;29393594;29493099;29557506;29632046;29769354;29786170;30192525;30315122;30410026;30484775;30779550;30916345;31071488;31192305;31217245;31465518;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33214551;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34509645;34612665;34725712;34932366;35051231;35132862;35456945;35580925;36010968;36241641;36284347;37254791;37938771;40914422", "class_list": "", "function": "(Microbial infection) Involved in immunodeficiency virus (HIV-1) infection by importing the pre-integration complex (PIC) into the nucleus (PubMed:18722123, PubMed:21901095, PubMed:22398280, PubMed:29329553). Required for a nuclear maturation step of HIV-1 prior to integration (PubMed:21901095, PubMed:22398280)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; CRISPR/Cas9-Induced Mutagenesis Corroborates the Role of Transportin-SR2 in HIV-1 Nuclear Import., [RefSeq, PubMed]; IRF5-TNOP3 polymorphisms are associated with elite control of HIV infection: A retrospective study., [RefSeq, PubMed]; Importin, which transports target proteins into the nucleus (PubMed:10366588, PubMed:10713112, PubMed:11517331, PubMed:12628928, PubMed:24449914). Specifically mediates the nuclear import of splicing factor serine/arginine (SR) proteins, such as RBM4, SFRS1 and SFRS2, by recognizing phosphorylated SR domains (PubMed:10366588, PubMed:10713112, PubMed:11517331, PubMed:12628928, PubMed:24449914). Also mediates the nuclear import of serine/arginine (SR) protein CPSF6, independently of CPSF6 phosphorylation (PubMed:30916345, PubMed:31465518). The nuclear import process is regulated by the small GTPase Ran that partitions between cytoplasm and nucleus in the predominantly GDP- and GTP-bound form, respectively (PubMed:23878195, PubMed:24449914). Importin associates with target cargo proteins in the cytoplasm, and the competitive binding of GTP-bound Ran induces the release of cargos in the nucleus (PubMed:23878195, PubMed:24449914)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Results imply that the mechanism by which SR proteins are imported to the nucleus is conserved between Drosophila and humans and involves the nuclear import receptor transportin-SR, [RefSeq, PubMed]; The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Several protein-coding and non-coding transcript variants have been found for this gene. [provided by RefSeq, Apr 2020]., [RefSeq]; Transportin-3 Facilitates Uncoating of Influenza A Virus. Erratum:[Int J Mol Sci. 2025 Dec 01;26(23):11639. doi: 10.3390/ijms262311639. PMID: 41373917] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D1K9;C9IZM0;Q6NUM1;Q96G71;Q96GU9;Q9Y3R2", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005642 annulate lamellae", "go_biological_process": "GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q9Y5L0-2", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6L7-1", "uniprot_id": [ { "id": "TLL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6L7", "type": "external" } ], "mass": 113557.0, "length": 1015, "protein_name": "Tolloid-like protein 2", "gene_name": "TLL2", "organism": "Human", "refseq_name": "tolloid-like protein 2 precursor", "refseq_ac": [ { "id": "NP_036597", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036597", "type": "external" } ], "gene_names_uniprotkb": "TLL2; KIAA0932", "gene_names_refseq": "TLL2", "protein_names_uniprotkb": "Tolloid-like protein 2; 3.4.24.-", "protein_names_refseq": "tolloid-like protein 2 precursor; tolloid-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7093); (R-HSA-1474228); (R-HSA-1650814); (R-HSA-2214320); (R-HSA-2243919)", "pathway_count": 5, "publication_count": 109, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10229672;10386589;10479448;10706100;10809722;10934207;10986281;11313359;11375993;11872628;11986329;12211432;1237296;12473679;12475640;12646579;12727852;12843408;1323838;1348714;14500733;1484505;14973287;15044469;15234972;15591058;1567360;1577494;15958533;16133547;16272566;1649600;16563355;16591531;16631740;16825321;1698775;1707285;17332331;17354228;17608959;18434311;18487197;18599485;18658137;18824173;19010778;19075007;19571574;19657146;19693541;19714641;19729652;20142769;20470363;21030783;21297635;21441952;21670566;21784848;21864727;21878990;21967573;22159414;22842973;23035980;23584533;23777486;23845380;2543975;28796414;29242379;29741879;3082888;3173483;31888525;34411563;35051231;35580925;3595596;37217939;3905801;3938630;3992061;41816;5246001;5723342;6129847;6307276;641035;6809411;7075587;710450;7547873;8226919;8626565;8636146;9054364;9065415;9115292;9148753;9461298;9470928;9545296;9560306;9582318;9852107", "class_list": "", "function": "By means of a cross-species comparative genetic strategy we describe an association for TLL2 with bipolar disorder., [RefSeq, PubMed]; Findings suggest that these MMP16 rs10090371, ADAMTS3 rs788935, TLL2 rs10882807 and MMP9 rs3918251 may be promising prognostic biomarkers for cutaneous melanoma specific survival (CMSS)., [RefSeq, PubMed]; Genomic analysis identified compound heterozygous mutations at TLL2 on the male patient's genome, and compound heterozygous mutations at VPS13A and the de novo mutation at AGAP5 on female patient's genome Publication Status: Online-Only, [RefSeq, PubMed]; Protease which specifically processes pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis., [UniProtKB]; The crystal structures of the protease domains of human BMP-1 and the closely related Tolloid-like protease 1 (TLL-1), are reported., [RefSeq, PubMed]; This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 4, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A6NDK0;Q2M1H1;Q6PJN5;Q9UQ00", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.22.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.15", "type": "external" }, { "id": "3.4.24.19", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.19", "type": "external" }, { "id": "1.4.3.13", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.13", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0016485 protein processing;GO:0030154 cell differentiation;GO:0030199 collagen fibril organization;GO:0009953 dorsal/ventral pattern formation", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q9Y6L7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MYJ7-1", "uniprot_id": [ { "id": "TTC34_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MYJ7", "type": "external" } ], "mass": 60903.0, "length": 566, "protein_name": "Tetratricopeptide repeat protein 34", "gene_name": "TTC34", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 34", "refseq_ac": [ { "id": "NP_001229601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229601", "type": "external" } ], "gene_names_uniprotkb": "TTC34", "gene_names_refseq": "TTC34", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 34; TPR repeat protein 34", "protein_names_refseq": "TPR repeat protein 34; TPR repeat-containing protein ENSP00000383873; tetratricopeptide repeat protein 34", "tax_id": 9606, "disease": "", "pathway": " (hsa:100287898)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;28228285;30192525;31844290;32387766", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MXL8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A8MYJ7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A1L167-1", "uniprot_id": [ { "id": "U2QL1_HUMAN", "url": "https://www.uniprot.org/uniprot/A1L167", "type": "external" } ], "mass": 18338.0, "length": 161, "protein_name": "Ubiquitin-conjugating enzyme E2Q-like protein 1", "gene_name": "UBE2QL1", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2Q-like protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001138633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138633", "type": "external" } ], "gene_names_uniprotkb": "UBE2QL1", "gene_names_refseq": "UBE2QL1", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2Q-like protein 1; 2.3.2.23; E2Q-like ubiquitin-conjugating enzyme 1", "protein_names_refseq": "E2Q-like ubiquitin-conjugating enzyme 1; ubiquitin conjugating enzyme E2 Q family like 1; ubiquitin-conjugating enzyme E2Q family-like 1; ubiquitin-conjugating enzyme E2Q-like protein 1 isoform 2; ubiquitin-conjugating enzyme E2Q-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:134111)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "23481700;24000165;28228285;29508533;29632046;30078552;30410026;31432621;31844290;32938616;33936100;35051231", "class_list": "", "function": "Probable E2 ubiquitin-protein ligase that catalyzes the covalent attachment of ubiquitin to target proteins. May facilitate the monoubiquitination and degradation of MTOR and CCNE1 through interaction with FBXW7., [UniProtKB, PubMed]; UBE2QL1 as a novel candidate renal tumor suppressor gene., [RefSeq, PubMed]; UBE2QL1 coordinates critical steps in the acute endolysosomal damage response and is essential for maintenance of lysosomal integrity., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "A1L167-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2A3L6-1", "uniprot_id": [ { "id": "TTC24_HUMAN", "url": "https://www.uniprot.org/uniprot/A2A3L6", "type": "external" } ], "mass": 63396.0, "length": 582, "protein_name": "Tetratricopeptide repeat protein 24", "gene_name": "TTC24", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 24", "refseq_ac": [ { "id": "NP_001099139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099139", "type": "external" } ], "gene_names_uniprotkb": "TTC24", "gene_names_refseq": "TTC24", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 24; TPR repeat protein 24", "protein_names_refseq": "TPR repeat protein 24; tetratricopeptide repeat protein 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:164118)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "25892735;29769354;30379171;33141586;35051231;35494241", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T3H7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A2A3L6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NCW7-1", "uniprot_id": [ { "id": "U17L4_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NCW7", "type": "external" } ], "mass": 59636.0, "length": 530, "protein_name": "Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4", "gene_name": "USP17L4", "organism": "Human", "refseq_name": "inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4", "refseq_ac": [ { "id": "NP_001243803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243803", "type": "external" } ], "gene_names_uniprotkb": "USP17L4", "gene_names_refseq": "USP17L4", "protein_names_uniprotkb": "Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4", "protein_names_refseq": "inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:645402); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10444327;10982817;11566882;11923872;12917689;12917691;14661020;15053880;15780755;15916963;16214042;16901786;16964248;17109758;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24715725;24896179;25197364;25305019;25578727;7578059", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "A6NCW7-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWV7-1", "uniprot_id": [ { "id": "TTLL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWV7", "type": "external" } ], "mass": 67336.0, "length": 592, "protein_name": "Probable tubulin polyglutamylase TTLL2", "gene_name": "TTLL2", "organism": "Human", "refseq_name": "probable tubulin polyglutamylase TTLL2 isoform 1", "refseq_ac": [ { "id": "NP_114155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114155", "type": "external" } ], "gene_names_uniprotkb": "TTLL2; C6orf104", "gene_names_refseq": "C6orf104; NYD-TSPG; TTLL2; dJ366N23.3", "protein_names_uniprotkb": "Probable tubulin polyglutamylase TTLL2; 6.-.-.-; Testis-specific protein NYD-TSPG; Tubulin--tyrosine ligase-like protein 2", "protein_names_refseq": "probable tubulin polyglutamylase TTLL2 isoform 1; probable tubulin polyglutamylase TTLL2; testis-specific protein NYD-TSPG; tubulin tyrosine ligase-like family, member 2; tubulin--tyrosine ligase-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:83887); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "11054573;11237011;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20519502;21074048;23358242;25103237;25468068;25957412;29146868;29557506;30484775;32488085;7452228", "class_list": "", "function": "Characterization of another human tubulin tyrosine ligase-like gene family member, [RefSeq, PubMed]; Probable tubulin polyglutamylase that generates side chains of glutamate on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of target proteins (By similarity). Similar to TTLL1, may acquire enzymatic activity only in complex with other proteins as it is most likely lacking domains important for autonomous activity (By similarity). Probably involved in the side-chain initiation step of the polyglutamylation reaction rather than the elongation step (By similarity)., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RB11;B3KS77;Q7Z6R8;Q86X22", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "6.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.-", "type": "external" }, { "id": "6.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.-.-.-", "type": "external" } ], "go_molecular_function": "GO:0070740 tubulin-glutamic acid ligase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0015631 tubulin binding;GO:0016874 ligase activity", "go_cellular_component": "GO:0036064 ciliary basal body", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9BWV7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35443-1", "uniprot_id": [ { "id": "TSP4_HUMAN", "url": "https://www.uniprot.org/uniprot/P35443", "type": "external" } ], "mass": 105869.0, "length": 961, "protein_name": "Thrombospondin-4", "gene_name": "THBS4", "organism": "Human", "refseq_name": "thrombospondin-4 isoform b", "refseq_ac": [ { "id": "NP_001293141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293141", "type": "external" } ], "gene_names_uniprotkb": "THBS4; TSP4", "gene_names_refseq": "THBS4; TSP-4; TSP4", "protein_names_uniprotkb": "Thrombospondin-4", "protein_names_refseq": "thrombospondin-4 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:7060); (R-HSA-186797)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10.1074/mcp.M114.046862;10508235;11237011;12369853;12538485;1311092;15207811;15615512;15767546;16331269;1639841;16436588;16474853;17367763;17604334;17943726;18559524;19441079;19564526;20813817;21251937;21376233;22011848;22682248;22933705;23287452;23481700;23583652;23892609;25328409;25597754;25813380;26992070;27862975;28218747;28435517;28834231;29093181;29137923;29242379;29263244;29408302;29437277;29557506;29605689;29786170;29964125;30389923;30459171;31085175;31844290;32350084;32357974;32938616;33717175;33910854;33912179;33971315;33981976;34357683;34390328;34411563;35051231;35251023;35580925;36284347;36566568;7490284;7852353;8350346;8900172;9334164;9739761", "class_list": "", "function": "Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions and is involved in various processes including cellular proliferation, migration, adhesion and attachment, inflammatory response to CNS injury, regulation of vascular inflammation and adaptive responses of the heart to pressure overload and in myocardial function and remodeling. Binds to structural extracellular matrix (ECM) proteins and modulates the ECM in response to tissue damage, contributing to cardioprotective and adaptive ECM remodeling. Plays a role in ER stress response, via its interaction with the activating transcription factor 6 alpha (ATF6) which produces adaptive ER stress response factors and protects myocardium from pressure overload. May contribute to spinal presynaptic hypersensitivity and neuropathic pain states after peripheral nerve injury. May play a role in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury in a NOTCH1-dependent manner (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Pathological Significance and Prognostic Roles of Thrombospondin-3, 4 and 5 in Bladder Cancer., [RefSeq, PubMed]; Spatiotemporal distribution of thrombospondin-4 and -5 in cartilage during endochondral bone formation and repair., [RefSeq, PubMed]; Stimulation with THBS4 activates pathways that regulate proliferation, migration and inflammation in primary human keratinocytes., [RefSeq, PubMed]; THBS4/integrin alpha2 axis mediates BM-MSCs to promote angiogenesis in gastric cancer associated with chronic Helicobacter pylori infection., [RefSeq, PubMed]; The functional analysis of the rat counterpart., [RefSeq, PubMed]; The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. It is involved in local signaling in the developing and adult nervous system, and it contributes to spinal sensitization and neuropathic pain states. This gene is activated during the stromal response to invasive breast cancer. It may also play a role in inflammatory responses in Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2R909;Q86TG2", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0005509 calcium ion binding;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0071603 endothelial cell-cell adhesion;GO:0001938 positive regulation of endothelial cell proliferation;GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation;GO:0051781 positive regulation of cell division;GO:0016525 negative regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "P35443-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43715-1", "uniprot_id": [ { "id": "TRIA1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43715", "type": "external" } ], "mass": 8786.0, "length": 76, "protein_name": "TP53-regulated inhibitor of apoptosis 1", "gene_name": "TRIAP1", "organism": "Human", "refseq_name": "TP53-regulated inhibitor of apoptosis 1", "refseq_ac": [ { "id": "NP_057483", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057483", "type": "external" } ], "gene_names_uniprotkb": "TRIAP1; 15E1.1; HSPC132", "gene_names_refseq": "HSPC132; MDM35; P53CSV; TRIAP1; WF-1", "protein_names_uniprotkb": "TP53-regulated inhibitor of apoptosis 1; Protein 15E1.1; WF-1; p53-inducible cell-survival factor; p53CSV", "protein_names_refseq": "TP53-regulated inhibitor of apoptosis 1; mitochondrial distribution and morphology 35 homolog; p53-inducible cell-survival factor; protein 15E1.1", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612)", "pathway": " (hsa:51499); (R-HSA-6803204); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "10807576;11030628;11511362;11684014;11923310;12198491;12402042;12606722;14623864;14729977;15126337;15273740;15522782;15607964;15735003;15870080;16115876;17101804;17297443;17349958;17579211;18617898;19171422;19377469;19841671;20877624;22262461;22334068;22710082;22766503;23201127;23365256;23684607;23931759;24315374;24520911;25080938;26071602;26504172;26923599;27496948;27642048;28377575;28396416;28832583;29301859;29932645;30120231;31327635;31530632;31695197;31844290;33257573;33968037;33981772;34704252;34943861;35870450;36629048;36917609;39135128;7623837;7834749", "class_list": "", "function": "Circular RNA NFIX Functions as an Oncogene in Non-Small Cell Lung Cancer by Modulating the miR-214-3p/TRIAP1 Axis. Erratum:[Clin Respir J. 2025 Jun;19(6):e70096. doi: 10.1111/crj.70096. PMID: 40534563], [RefSeq, PubMed]; Circular RNA circPVT1 Contributes to Doxorubicin (DXR) Resistance of Osteosarcoma Cells by Regulating TRIAP1 via miR-137. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane (PubMed:23931759). Likewise, the TRIAP1:PRELID3A complex mediates the transfer of phosphatidic acid (PA) between liposomes (in vitro) and probably functions as a PA transporter across the mitochondrion intermembrane space (in vivo) (PubMed:26071602). Mediates cell survival by inhibiting activation of caspase-9 which prevents induction of apoptosis (PubMed:15735003)., [UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Triap1 upregulation promotes escape from mitotic-slippage-induced G1 arrest., [RefSeq, PubMed]; Under specific conditions of stress, p53 regulates transcription of p53CSV and that p53CSV is one of the important players in the p53-mediated cell survival. GeneRIF: HSPC132 is p53CSV, a novel p53-inducible gene involved in the p53-dependent cell-survival pathway, [RefSeq, PubMed]; Upregulated in at least 50% of multiple myeloma cases tested., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4Z7;Q5RKS5;Q6LCA7", "ec_number_list": [ { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0002039 p53 binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space;GO:0032991 protein-containing complex", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006915 apoptotic process;GO:0015914 phospholipid transport;GO:0090201 negative regulation of release of cytochrome c from mitochondria", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "O43715-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60635-1", "uniprot_id": [ { "id": "TSN1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60635", "type": "external" } ], "mass": 26301.0, "length": 241, "protein_name": "Tetraspanin-1", "gene_name": "TSPAN1", "organism": "Human", "refseq_name": "tetraspanin-1", "refseq_ac": [ { "id": "NP_005718", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005718", "type": "external" } ], "gene_names_uniprotkb": "TSPAN1", "gene_names_refseq": "NET1; TM4C; TM4SF; TSPAN1", "protein_names_uniprotkb": "Tetraspanin-1; Tetraspan NET-1; Tetraspanin TM4-C; Tspan-1", "protein_names_refseq": "tetraspan 1; tetraspanin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10103)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10.1101/2023.09.13.557529;12115476;19508227;21836059;23090970;24190977;25576301;26791533;29557506;29741879;29789417;30066932;30291375;31154438;31530632;32157095;32983136;33455017;33537174;34185709;34852709;35580925;36284347;36591302;37074911;38135697;38273746;39894887;9714763", "class_list": "", "function": "ALKBH5 Suppresses Autophagy in Prostate Cancer Cells via Inhibiting m6A-Modification of TSPAN1 mRNA., [RefSeq, PubMed]; Overexpression of NET-1 is associated with undifferentiated squamous cell carcinoma of cervical neoplasms, [RefSeq, PubMed]; Prognostic role of TSPAN1, KIAA1324 and ESRP1 in prostate cancer., [RefSeq, PubMed]; Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Participates thereby in diverse biological functions such as cell signal transduction, adhesion, migration and protein trafficking (PubMed:30066932, PubMed:30291375). Regulates neuronal differentiation in response to NGF by facilitating NGF-mediated activation of NTRK1/TRKA receptor tyrosine kinase and subsequent downstream signaling pathways (By similarity). Plays a role in the inhibition of TNFalpha-induced apoptosis. Mechanistically, inhibits the NF-kappa-B signaling pathway by blocking phosphorylation of CHUK (PubMed:30291375). Also promotes the stability of the thiamine transporter 1/SLC19A2 in intestinal epithelial cells leading to an increase of thiamine uptake process (PubMed:21836059)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; TSPAN1 inhibits metastasis of nasopharyngeal carcinoma via suppressing NF-kB signaling., [RefSeq, PubMed]; Tetraspanin 1 (TSPAN1) promotes growth and transferation of breast cancer cells via mediating PI3K/Akt pathway., [RefSeq, PubMed]; The immunological characteristics of TSPAN1 expressing B cells in autoimmune hepatitis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 75, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "D3DQ14;O60745;Q5VST0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "O60635-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60858-1", "uniprot_id": [ { "id": "TRI13_HUMAN", "url": "https://www.uniprot.org/uniprot/O60858", "type": "external" } ], "mass": 46988.0, "length": 407, "protein_name": "E3 ubiquitin-protein ligase TRIM13", "gene_name": "TRIM13", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM13 isoform 2", "refseq_ac": [ { "id": "NP_001007279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279", "type": "external" } ], "gene_names_uniprotkb": "TRIM13; LEU5; RFP2; RNF77", "gene_names_refseq": "CAR; DLEU5; LEU5; RFP2; RNF77; TRIM13", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM13; 2.3.2.27; B-cell chronic lymphocytic leukemia tumor suppressor Leu5; Leukemia-associated protein 5; Putative tumor suppressor RFP2; RING finger protein 77; RING-type E3 ubiquitin transferase TRIM13; Ret finger protein 2; Tripartite motif-containing protein 13", "protein_names_refseq": "B-cell chronic lymphocytic leukemia tumor suppressor Leu5; CLL-associated RING finger; E3 ubiquitin-protein ligase TRIM13 isoform 2; E3 ubiquitin-protein ligase TRIM13; RING finger protein 77; RING-type E3 ubiquitin transferase TRIM13; leukemia-associated protein 5; putative tumor suppressor RFP2; ret finger protein 2; tripartite motif protein 13; tripartite motif-containing protein 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:10206); (R-HSA-901032)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10.1101/2023.09.13.557529;10409699;10694380;11237011;11264177;11331580;12913004;14499696;15713668;16431915;17314412;18003979;18264092;18417469;18426978;19084021;21333377;22178386;23232094;24190977;24715725;25088585;25092655;25152375;25576301;25645385;25892735;26992070;27600516;27862975;28087809;28218747;28514659;28832583;28904123;29242379;29371260;29437277;29557506;29786170;30315122;30429286;30833945;31154438;31357025;31530632;31844290;31901873;32157095;32357974;32897882;32983136;33592498;33912179;33936100;33968037;33981976;34171305;34185709;34561969;35051231;35318648;35580925;36010968;36180926;37074911;37217939;37245083;37938771;38537695;9599022", "class_list": "", "function": "Altered DNA methylation of TRIM13 in diabetic nephropathy suppresses mesangial collagen synthesis by promoting ubiquitination of CHOP., [RefSeq, PubMed]; Endoplasmic reticulum (ER) membrane anchored E3 ligase involved in the retrotranslocation and turnover of membrane and secretory proteins from the ER through a set of processes named ER-associated degradation (ERAD). This process acts on misfolded proteins as well as in the regulated degradation of correctly folded proteins. Enhances ionizing radiation-induced p53/TP53 stability and apoptosis via ubiquitinating MDM2 and AKT1 and decreasing AKT1 kinase activity through MDM2 and AKT1 proteasomal degradation. Regulates ER stress-induced autophagy, and may act as a tumor suppressor (PubMed:22178386). Also plays a role in innate immune response by stimulating NF-kappa-B activity in the TLR2 signaling pathway. Ubiquitinates TRAF6 via the 'Lys-29'-linked polyubiquitination chain resulting in NF-kappa-B activation (PubMed:28087809). Participates as well in T-cell receptor-mediated NF-kappa-B activation (PubMed:25088585). In the presence of TNF, modulates the IKK complex by regulating IKBKG/NEMO ubiquitination leading to the repression of NF-kappa-B (PubMed:25152375)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Results indicate that TRIM13 behaves as a tumor suppressor in non-small-cell lung carcinoma through regulating NF-kappaB pathway., [RefSeq, PubMed]; TRIM13 inhibits cell proliferation and induces autophagy in lung adenocarcinoma by regulating KEAP1/NRF2 pathway., [RefSeq, PubMed]; TRIM13 reduces cholesterol efflux and increases oxidized LDL uptake leading to foam cell formation and atherosclerosis., [RefSeq, PubMed]; TRIM3 and TRIM16 as potential tumor suppressors in breast cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene is located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RB49;Q5UBW0;Q5W0U8;Q5W0U9;Q9BQ47;Q9C021", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" } ], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0061659 ubiquitin-like protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0097038 perinuclear endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0044322 endoplasmic reticulum quality control compartment", "go_biological_process": "GO:0032897 negative regulation of viral transcription;GO:0044790 suppression of viral release by host;GO:0045087 innate immune response;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "O60858-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95551-1", "uniprot_id": [ { "id": "TYDP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95551", "type": "external" } ], "mass": 40930.0, "length": 362, "protein_name": "Tyrosyl-DNA phosphodiesterase 2", "gene_name": "TDP2", "organism": "Human", "refseq_name": "tyrosyl-DNA phosphodiesterase 2", "refseq_ac": [ { "id": "NP_057698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057698", "type": "external" } ], "gene_names_uniprotkb": "TDP2; AD-022; EAP2; TTRAP", "gene_names_refseq": "AD022; EAP2; EAPII; TDP2; TTRAP; dJ30M3.3; hTDP2", "protein_names_uniprotkb": "Tyrosyl-DNA phosphodiesterase 2; 3.1.4.-; 5'-Tyr-DNA phosphodiesterase; 5'-tyrosyl-DNA phosphodiesterase; EAPII; ETS1-associated protein 2; ETS1-associated protein II; TRAF and TNF receptor-associated protein; Tyr-DNA phosphodiesterase 2; Tyrosyl-RNA phosphodiesterase; VPg unlinkase; hTDP2", "protein_names_refseq": "5'-Tyr-DNA phosphodiesterase; 5'-tyrosyl-DNA phosphodiesterase; ETS1-associated protein 2; ETS1-associated protein II; TRAF and TNF receptor-associated protein; VPg unlinkase; epididymis secretory sperm binding protein; tyr-DNA phosphodiesterase 2; tyrosyl-DNA phosphodiesterase 2; tyrosyl-RNA phosphodiesterase", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 23 (Disease Ontology:DOID:0111613)", "pathway": " (hsa:51567); (R-HSA-5693571)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "10572166;10757784;10764746;10931946;11237011;11493912;11604075;11702069;11955432;12023295;12077346;12186630;12231622;12509254;12743594;12897153;12947387;14561766;14609633;15177042;15451442;15468306;15574327;15723659;16061182;16093244;16439204;16439205;16600297;16874298;16914548;17290226;17470781;18039968;18046455;18397950;19505854;19794497;21030584;21921940;21980489;21993680;22179609;22223895;22405347;22529269;22822062;22908287;23186163;23301498;23306437;23333306;23481700;23505375;23727112;24236237;24658003;25512557;25576301;25818648;25841101;26154972;26701725;26992070;27060144;27099339;27600516;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29632046;30779550;30833945;31154438;31844290;32023921;32157095;32488085;32502341;32938616;32983136;33141586;33378676;33392160;33717175;33912179;33968037;34171305;34606976;34932366;35051231;35318648;35580925;36241641;36284347;37558815;39236418;8422676;9259561;9430729;9512523;9826654", "class_list": "", "function": "(Microbial infection) Used by picornaviruses to remove the small polypeptide, VPg (virus Protein genome-linked, the primer for viral RNA synthesis), from the genomic RNA of the virus. Acts as a 5'-tyrosyl RNA phosphodiesterase and cleaves the covalent VPg-Tyr-RNA bond. This cleavage would play a role in viral replication and occur in viral replication vesicles, but would not act on viral mRNA., [UniProtKB, PubMed, PubMed]; A novel non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature. Review article, [RefSeq, PubMed]; DNA and RNA Cleavage Complexes and Repair Pathway for TOP3B RNA- and DNA-Protein Crosslinks., [RefSeq, PubMed]; DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 5'-phosphodiester bond, giving rise to DNA with a free 5' phosphate. Catalyzes the hydrolysis of dead-end complexes between DNA and the topoisomerase 2 (TOP2) active site tyrosine residue. The 5'-tyrosyl DNA phosphodiesterase activity can enable the repair of TOP2-induced DNA double-strand breaks/DSBs without the need for nuclease activity, creating a 'clean' DSB with 5'-phosphate termini that are ready for ligation (PubMed:27060144, PubMed:27099339). Thereby, protects the transcription of many genes involved in neurological development and maintenance from the abortive activity of TOP2. Hydrolyzes 5'-phosphoglycolates on protruding 5' ends on DSBs due to DNA damage by radiation and free radicals. Has preference for single-stranded DNA or duplex DNA with a 4 base pair overhang as substrate. Acts as a regulator of ribosome biogenesis following stress. Also has 3'-tyrosyl DNA phosphodiesterase activity, but less efficiently and much slower than TDP1. Constitutes the major if not only 5'-tyrosyl-DNA phosphodiesterase in cells. Also acts as an adapter by participating in the specific activation of MAP3K7/TAK1 in response to TGF-beta: associates with components of the TGF-beta receptor-TRAF6-TAK1 signaling module and promotes their ubiquitination dependent complex formation. Involved in non-canonical TGF-beta induced signaling routes. May also act as a negative regulator of ETS1 and may inhibit NF-kappa-B activation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Exploring the removal of Spo11 and topoisomerases from DNA breaks in S. cerevisiae by human Tyrosyl DNA Phosphodiesterase 2., [RefSeq, PubMed]; Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia., [RefSeq, PubMed]; Interacts with ETS1 and modulates its transcriptional function, [RefSeq, PubMed]; This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DKL8;B4DQ95;Q2TBE2;Q5JYM0;Q7Z6U5;Q9NUK5;Q9NYY9", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0030145 manganese ion binding;GO:0003714 transcription corepressor activity;GO:0003697 single-stranded DNA binding;GO:0004518 nuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0006302 double-strand break repair;GO:0048666 neuron development;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "O95551-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95900-1", "uniprot_id": [ { "id": "TRUB2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95900", "type": "external" } ], "mass": 36694.0, "length": 331, "protein_name": "Pseudouridylate synthase TRUB2, mitochondrial", "gene_name": "TRUB2", "organism": "Human", "refseq_name": "pseudouridylate synthase TRUB2, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001316790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316790", "type": "external" } ], "gene_names_uniprotkb": "TRUB2", "gene_names_refseq": "CLONE24922; TRUB2", "protein_names_uniprotkb": "Pseudouridylate synthase TRUB2, mitochondrial; 5.4.99.-; 5.4.99.25; Psi55 synthase TRUB2; TruB pseudouridine synthase homolog 2; tRNA pseudouridine 55 synthase TRUB2", "protein_names_refseq": "TruB pseudouridine (psi) synthase family member 2; TruB pseudouridine (psi) synthase homolog 2; mitochondrial mRNA pseudouridine synthase TRUB2; probable tRNA pseudouridine synthase 2; pseudouridylate synthase TRUB2, mitochondrial isoform 2; pseudouridylate synthase TRUB2, mitochondrial; psi55 synthase TRUB2; tRNA pseudouridine 55 synthase TRUB2; truB pseudouridine synthase homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:26995); (R-HSA-6793080); (R-HSA-9937008)", "pathway_count": 3, "publication_count": 42, "publication_id_list": "11809803;12496758;12736709;15110318;15769737;18083837;19356719;19417006;21292163;21531335;22341444;22949673;23022348;23303773;23804760;24036117;25008111;25009282;25074936;26464487;26992070;27667664;27974379;28082677;28218747;28228285;28834231;29107537;29242379;29437277;29786170;31477916;31844290;32357974;32488085;32897882;33023933;33141586;33537174;33968037;34185709;36010968", "class_list": "", "function": "Mammalian nuclear TRUB1, mitochondrial TRUB2, and cytoplasmic PUS10 produce conserved pseudouridine 55 in different sets of tRNA., [RefSeq, PubMed]; Minor enzyme contributing to the isomerization of uridine to pseudouridine (pseudouridylation) of specific mitochondrial mRNAs (mt-mRNAs) such as COXI and COXIII mt-mRNAs (PubMed:27974379, PubMed:31477916). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664). Also catalyzes pseudouridylation of some tRNAs, including synthesis of pseudouridine(55) from uracil-55, in the psi GC loop of a subset of tRNAs (PubMed:33023933)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z7G5", "ec_number_list": [ { "id": "5.4.99.25", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.25", "type": "external" }, { "id": "5.4.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.-", "type": "external" }, { "id": "5.4.99.42", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.42", "type": "external" }, { "id": "5.4.99.28", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.28", "type": "external" }, { "id": "5.4.99.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.12", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0009982 pseudouridine synthase activity;GO:0160148 tRNA pseudouridine(55) synthase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0035770 ribonucleoprotein granule", "go_biological_process": "GO:0006397 mRNA processing;GO:0016556 mRNA modification;GO:1990481 mRNA pseudouridine synthesis;GO:0070131 positive regulation of mitochondrial translation;GO:0070902 mitochondrial tRNA pseudouridine synthesis", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "O95900-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01737-1", "uniprot_id": [ { "id": "TVA84_HUMAN", "url": "https://www.uniprot.org/uniprot/P01737", "type": "external" } ], "mass": 12377.0, "length": 113, "protein_name": "T cell receptor alpha variable 8-4", "gene_name": "TRAV8-4", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAV8-4", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha variable 8-4; T cell receptor alpha chain V region PY14", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-198933); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-389948)", "pathway_count": 6, "publication_count": 157, "publication_id_list": "10499918;10671560;10698680;10716940;10746781;10747096;10790433;10811803;11048639;11265639;11358993;11390650;11489943;11513152;11556966;11607830;11752630;11807247;11827988;11857637;11858820;11861603;11884229;11955593;11955595;11955599;12213321;12473184;12483297;12485116;12588680;12660731;12893276;12938237;12947224;14510693;14514672;14719373;14970179;15034010;15040585;15084594;15122200;15125833;15136729;15145317;15155468;15187158;15304001;15358536;15371334;15489910;15489916;15534202;15541655;15541657;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16056267;16091383;16129954;16339513;16356853;16356855;16364187;16380601;16461343;16551255;16612002;16737824;16754721;16893496;16904340;16928187;16978534;17045824;17047224;17057721;17072321;17135271;17237375;17337780;17363905;17468049;17496917;17548359;17652306;17728323;18031695;18037897;18055229;18173375;18209062;18234675;18593354;18759926;19149696;19359216;19592130;20346773;20452950;20730098;21154117;21241660;21543337;21800138;21841309;21877119;22396535;22426112;23302904;23524462;23580664;23695528;23929856;24305946;24600447;2530588;25493333;25703557;25716998;26284469;26300885;28165004;28265006;29863979;30522017;31313098;3873654;7479848;7531291;7542404;7565724;8178173;8520027;8550590;8601309;8798379;8824201;8995416;9115214;9252186;9285412;9314561;9362451;9687533;9700512;9730896;9846482;9850860;9990853", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A0B4J246", "ec_number_list": [], "go_molecular_function": "GO:0042605 peptide antigen binding;GO:0042287 MHC protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "P01737-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04437-1", "uniprot_id": [ { "id": "TVA29_HUMAN", "url": "https://www.uniprot.org/uniprot/P04437", "type": "external" } ], "mass": 13438.0, "length": 119, "protein_name": "T cell receptor alpha variable 29/delta variable 5", "gene_name": "TRAV29DV5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAV29DV5", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha variable 29/delta variable 5", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-198933); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-389948)", "pathway_count": 6, "publication_count": 160, "publication_id_list": "10499918;10671560;10698680;10716940;10746781;10747096;10790433;10811803;11048639;11265639;11358993;11390650;11489943;11513152;11556966;11607830;11752630;11807247;11827988;11857637;11858820;11861603;11884229;11955593;11955595;11955599;12213321;12473184;12483297;12485116;12588680;12660731;12893276;12938237;12947224;14510693;14514672;14719373;14970179;15034010;15040585;15084594;15122200;15125833;15136729;15145317;15155468;15187158;15304001;15358536;15371334;15489910;15489916;15534202;15541655;15541657;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16056267;16091383;16129954;16339513;16356853;16356855;16364187;16380601;16461343;16551255;16612002;16737824;16754721;16893496;16904340;16928187;16978534;17045824;17047224;17057721;17072321;17135271;17237375;17337780;17363905;17468049;17496917;17548359;17652306;17728323;18031695;18037897;18055229;18173375;18209062;18234675;18593354;18759926;19149696;19359216;19592130;20346773;20452950;20730098;21154117;21241660;21543337;21800138;21841309;21877119;22396535;22426112;23302904;23524462;23580664;23695528;23929856;2426193;24305946;24600447;2530588;25493333;25703557;25716998;26284469;26300885;28165004;28265006;29557506;29863979;30522017;31313098;7479848;7531291;7542404;7565724;8178173;8520027;8550590;8601309;8798379;8824201;8995416;9110172;9115214;9252186;9285412;9314561;9362451;9586631;9687533;9700512;9730896;9846482;9850860;9990853", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0JD25", "ec_number_list": [], "go_molecular_function": "GO:0042605 peptide antigen binding;GO:0042287 MHC protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "P04437-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DI82-1", "uniprot_id": [ { "id": "TPC2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DI82", "type": "external" } ], "mass": 16445.0, "length": 140, "protein_name": "Trafficking protein particle complex subunit 2B", "gene_name": "TRAPPC2B", "organism": "Human", "refseq_name": "trafficking protein particle complex subunit 2B", "refseq_ac": [ { "id": "NP_001342133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001342133", "type": "external" } ], "gene_names_uniprotkb": "TRAPPC2B; SEDLP1; TRAPPC2.19; TRAPPC2P1", "gene_names_refseq": "MIP-2A; MIP2A; SEDLP1; SEDLP; TRAPPC2B; TRAPPC2P1", "protein_names_uniprotkb": "Trafficking protein particle complex subunit 2B; MBP-1-interacting protein 2A; MIP-2A", "protein_names_refseq": "MBP-1 interacting protein-2A; spondyloepiphyseal dysplasia, late, pseudogene; trafficking protein particle complex 2 pseudogene 1; trafficking protein particle complex 2B; trafficking protein particle complex subunit 2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:10597); (hsa:6399)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10431248;11031107;11134351;11805826;12700240;19416478;23186163;25576301;25892735;26992070;28218747;28228285;28832583;28834231;29242379;29437277;29493099;29557506;29769354;29786170;30315122;32502341;33298915;33592498;33633747;33717175;33912179;34171305;34357683", "class_list": "", "function": "MBP-1 interacting protein-2A (MIP-2A) preferentially expresses in certain tissues, including the pituitary gland, and negatively regulates the LHbeta gene transcription (MBP-1 interacting protein-2A), [RefSeq, PubMed]; Prevents transcriptional repression and induction of cell death by ENO1. May play a role in vesicular transport from endoplasmic reticulum to Golgi., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NEG0;O14582;Q9HD16", "ec_number_list": [], "go_molecular_function": "GO:0001222 transcription corepressor binding;GO:0140416 transcription regulator inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0048471 perinuclear region of cytoplasm;GO:0005793 endoplasmic reticulum-Golgi intermediate compartment", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0010628 positive regulation of gene expression;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0048208 COPII vesicle coating;GO:0006901 vesicle coating", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "P0DI82-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53007-1", "uniprot_id": [ { "id": "TXTP_HUMAN", "url": "https://www.uniprot.org/uniprot/P53007", "type": "external" } ], "mass": 34013.0, "length": 311, "protein_name": "Tricarboxylate transport protein, mitochondrial", "gene_name": "SLC25A1", "organism": "Human", "refseq_name": "tricarboxylate transport protein, mitochondrial isoform a precursor", "refseq_ac": [ { "id": "NP_005975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005975", "type": "external" } ], "gene_names_uniprotkb": "SLC25A1; SLC20A3", "gene_names_refseq": "CIC; CMS23; CTP; D2L2AD; SEA; SLC20A3; SLC25A1", "protein_names_uniprotkb": "Tricarboxylate transport protein, mitochondrial; CIC; CTP; Citrate transport protein; Mitochondrial citrate carrier; Solute carrier family 25 member 1; Tricarboxylate carrier protein", "protein_names_refseq": "citrate isocitrate carrier; citrate transport protein; citrate transporter), member 1; mitochondrial citrate carrier; solute carrier family 20 (mitochondrial citrate transporter), member 3; solute carrier family 25 (mitochondrial carrier; tricarboxylate carrier protein; tricarboxylate transport protein, mitochondrial isoform a precursor; tricarboxylate transport protein, mitochondrial", "tax_id": 9606, "disease": "2-hydroxyglutaric aciduria (Disease Ontology:DOID:0050573); chromosome 22q11.2 deletion syndrome, distal (Disease Ontology:DOID:0060413); combined D-2- and L-2-hydroxyglutaric aciduria (Disease Ontology:DOID:0111619); DiGeorge syndrome (Disease Ontology:DOID:11198); congenital myasthenic syndrome (Disease Ontology:DOID:3635); mitochondrial metabolism disease (Disease Ontology:DOID:700); myasthenic syndrome, congenital, 23, presynaptic (MONDO:MONDO:0032596)", "pathway": " (hsa:6576); (R-HSA-428643)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10585886;11237011;11945784;11946196;1252077;16920706;17692818;18477386;19608861;19787704;20068231;20448665;23186163;23393310;23561848;24397554;24715725;25418920;25576301;25614306;25645385;25880248;26154972;26375851;26811146;26870663;26992070;27306203;27846572;27920218;28228285;28832583;28834231;28904123;29031613;29211846;29226520;29238895;29242379;29393594;29557506;29632046;29632711;30315122;30379171;30429286;30779550;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32938616;33141586;33298915;33537174;33592498;33912179;33936100;33968037;34020084;34087483;34171305;34211107;34357683;34509645;34520823;35051231;35083852;35580925;35728586;36010968;36215666;36241641;37689798;37695315;37938771;38665916;38937634;39881208;4687397;4716993;4719206;4745729;7470147;8597574;8660975;8666394", "class_list": "", "function": "Mitochondrial electroneutral antiporter that exports citrate from the mitochondria into the cytosol in exchange for malate (PubMed:26870663, PubMed:29031613, PubMed:29238895, PubMed:39881208, PubMed:38937634). Also able to mediate the exchange of citrate for isocitrate, phosphoenolpyruvate, cis-aconitate and to a lesser extent trans-aconitate, maleate and succinate (PubMed:29031613). Substrate exchange across the membrane occurs consecutively with one substrate being transported first, then dissociating from the substrate binding site before the second substrate binds for transport in the opposite direction (PubMed:38937634). In the cytoplasm, citrate plays important roles in fatty acid and sterol synthesis, regulation of glycolysis, protein acetylation, and other physiopathological processes (PubMed:29031613, PubMed:29238895, PubMed:39881208)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Oncogenic KRASG12D Reprograms Lipid Metabolism by Upregulating SLC25A1 to Drive Pancreatic Tumorigenesis., [RefSeq, PubMed]; The citrate transporters SLC13A5 and SLC25A1 elicit different metabolic responses and phenotypes in the mouse. Publication Status: Online-Only, [RefSeq, PubMed]; The results of molecular cloning of a citrate transporter from human normal prostate epithelial PNT2-C2 cells, is reported., [RefSeq, PubMed]; This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8E8;Q9BSK6", "ec_number_list": [], "go_molecular_function": "GO:0015297 antiporter activity;GO:0015137 citrate transmembrane transporter activity;GO:0015142 tricarboxylic acid transmembrane transporter activity;GO:0071913 citrate secondary active transmembrane transporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0015711 organic anion transport;GO:0006843 mitochondrial citrate transmembrane transport;GO:0110076 negative regulation of ferroptosis", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "P53007-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16222-1", "uniprot_id": [ { "id": "UAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16222", "type": "external" } ], "mass": 58769.0, "length": 522, "protein_name": "UDP-N-acetylhexosamine pyrophosphorylase", "gene_name": "UAP1", "organism": "Human", "refseq_name": "UDP-N-acetylhexosamine pyrophosphorylase isoform a", "refseq_ac": [ { "id": "NP_001311042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311042", "type": "external" } ], "gene_names_uniprotkb": "UAP1; SPAG2", "gene_names_refseq": "AGX1; AGX2; AGX; SPAG2; UAP1", "protein_names_uniprotkb": "UDP-N-acetylhexosamine pyrophosphorylase; 2.7.4.-; 2.7.7.23; 2.7.7.83; AGX; Antigen X; Protein-pyrophosphorylation enzyme; Sperm-associated antigen 2; UDP-N-acetylgalactosamine pyrophosphorylase; UDP-N-acetylglucosamine pyrophosphorylase", "protein_names_refseq": "UDP-N-acetylgalactosamine pyrophosphorylase; UDP-N-acetylglucosamine diphosphorylase 1; UDP-N-acetylhexosamine pyrophosphorylase 1; UDP-N-acetylhexosamine pyrophosphorylase isoform a; antigen X; protein-pyrophosphorylation enzyme; sperm associated antigen 2; testis tissue sperm-binding protein Li 37a", "tax_id": 9606, "disease": "", "pathway": " (hsa:6675); (R-HSA-446210)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10198162;10824116;11707391;11726282;12174217;1460020;17010375;18675810;21073341;21310273;22692205;23301498;24715725;25241896;25576301;25645385;26992070;27600516;27920218;28218747;28228285;28510447;28832583;28904123;29242379;29393594;29437277;29557506;29769354;29786170;29789417;30315122;30429286;30484775;31154438;31222486;31844290;32157095;32161166;32350084;32357974;32387766;32650368;32897882;32938616;33098688;33214551;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34509645;34725712;35051231;35251023;35318648;35580925;36010968;36215666;36241641;36580660;36603579;37217939;38665916;39302247;8025165;9603950;9765219;9990133", "class_list": "glycogene", "function": "A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1., [RefSeq, PubMed]; Catalyzes the last step in biosynthesis of uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) by converting UTP and glucosamine 1-phosphate (GlcNAc-1-P) to the sugar nucleotide (PubMed:9603950, PubMed:9765219). Also converts UTP and galactosamine 1-phosphate (GalNAc-1-P) into uridine diphosphate-N-acetylgalactosamine (UDP-GalNAc) (PubMed:9765219). In addition to its role in metabolism, acts as a regulator of innate immunity in response to virus infection by mediating pyrophosphorylation of IRF3: catalyzes pyrophosphorylation of IRF3 phosphorylated at 'Ser-386' by TBK1, promoting IRF3 dimerization and activation, leading to type I interferon responses (PubMed:36603579)., [UniProtKB, PubMed, PubMed, PubMed]; Isoform AGX1 has 2 to 3 times higher activity towards galactosamine 1-phosphate (GalNAc-1-P)., [UniProtKB, PubMed]; Isoform AGX2 has 8 times more activity towards glucosamine 1-phosphate (GlcNAc-1-P)., [UniProtKB, PubMed]; Quantitative Proteomics of Urinary Bladder Cancer Cell Lines Identify UAP1 as a Potential Therapeutic Target. Publication Status: Online-Only, [RefSeq, PubMed]; Results identified an enzyme, UAP1, which is highly overexpressed in prostate cancer and protects cancer cells from endoplasmic reticulum stress conferring a growth advantage., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 553, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R6R8;Q5VTA9;Q5VTB0;Q5VTB1;Q96GM2", "ec_number_list": [ { "id": "2.7.7.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.23", "type": "external" }, { "id": "2.7.7.83", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.83", "type": "external" }, { "id": "2.7.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.-", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0003977 UDP-N-acetylglucosamine diphosphorylase activity;GO:0052630 UDP-N-acetylgalactosamine diphosphorylase activity;GO:0141090 protein serine pyrophosphorylase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006048 UDP-N-acetylglucosamine biosynthetic process;GO:0032481 positive regulation of type I interferon production;GO:0140374 antiviral innate immune response", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q16222-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16560-1", "uniprot_id": [ { "id": "U1SBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16560", "type": "external" } ], "mass": 29450.0, "length": 246, "protein_name": "U11/U12 small nuclear ribonucleoprotein 35 kDa protein", "gene_name": "SNRNP35", "organism": "Human", "refseq_name": "U11/U12 small nuclear ribonucleoprotein 35 kDa protein isoform a", "refseq_ac": [ { "id": "NP_073208", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073208", "type": "external" } ], "gene_names_uniprotkb": "SNRNP35; HM1; U1SNRNPBP", "gene_names_refseq": "HM-1; HM1; SNRNP35; U1SNRNPBP", "protein_names_uniprotkb": "U11/U12 small nuclear ribonucleoprotein 35 kDa protein; Protein HM-1; U1 snRNP-binding protein homolog; U11/U12 snRNP 35 kDa protein; U11/U12-35K", "protein_names_refseq": "U1 snRNP-binding protein homolog; U11/U12 small nuclear ribonucleoprotein 35 kDa protein isoform a; U11/U12 small nuclear ribonucleoprotein 35 kDa protein; U11/U12 snRNP 35 kDa protein; U11/U12 snRNP 35K; U11/U12-35K; protein HM-1; small nuclear ribonucleoprotein 35kDa (U11/U12); small nuclear ribonucleoprotein, U11/U12 35kDa subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:11066); (R-HSA-72165)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10207048;10520751;11333026;11607023;15146077;17940139;19052544;19565553;20068231;21872626;22645359;23481700;24366607;24714562;2524422;25576301;26154972;26375851;26728094;26811146;26992070;27510544;27920218;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29632046;29786170;30429286;31217245;31530632;31844290;32157095;32265295;32488085;32492425;32502341;32897882;32938616;32983136;33691108;33717175;33912179;33936100;33968037;34087483;34171305;35051231;35580925;8835860", "class_list": "", "function": "Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts., [RefSeq, PubMed]; Anti-U11/U12 RNP antibodies are present in the sera of approximately 3% of patients with systemic sclerosis and are a marker for lung fibrosis, which is often severe., [RefSeq, PubMed]; The protein encoded by this gene is a homolog of the U1-snRNP binding protein. The N-terminal half contains a RNA recognition motif and the C-terminal half is rich in Arg/Asp and Arg/Glu dipeptides, which is a characteristic of a variety of splicing factors. This protein is a component of the U11/U12 small nuclear ribonucleoproteins (snRNP) that form part of the U12-type spliceosome. Alternative splicing results in multiple transcript variants encoding two distinct isoforms and representing a non-protein coding variant. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K262;Q5XKN9", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0017069 snRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005689 U12-type spliceosomal complex", "go_biological_process": "GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome;GO:0000388 spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q16560-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2TAM9-1", "uniprot_id": [ { "id": "TUSC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2TAM9", "type": "external" } ], "mass": 23105.0, "length": 209, "protein_name": "Tumor suppressor candidate gene 1 protein", "gene_name": "TUSC1", "organism": "Human", "refseq_name": "tumor suppressor candidate gene 1 protein", "refseq_ac": [ { "id": "NP_001004125", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004125", "type": "external" } ], "gene_names_uniprotkb": "TUSC1", "gene_names_refseq": "CCDC89B; TSG-9; TSG9; TUSC1", "protein_names_uniprotkb": "Tumor suppressor candidate gene 1 protein; TSG-9; TSG9", "protein_names_refseq": "tumor suppressor candidate gene 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:286319)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "15208665;17081983;20574843;26897357;27920218;28975488;35434854", "class_list": "", "function": "Circular RNA circ_0065378 upregulates tumor suppressor candidate 1 by competitively binding with miR-4701-5p to alleviate colorectal cancer progression., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TUSC1 may play a role in lung tumorigenesis, [RefSeq, PubMed]; TUSC1 single nucleotide polymorphisms were significantly correlated with azoospermia and/or oligozoospermia in a Japanese population., [RefSeq, PubMed]; The expression of TUSC1 is significantly decreased in glioblastoma brain tumor tissues., [RefSeq, PubMed]; This gene is located within the region of chromosome 9p that harbors tumor suppressor genes critical in carcinogenesis. It is an intronless gene which is downregulated in non-small-cell lung cancer and small-cell lung cancer cell lines, suggesting that it may play a role in lung tumorigenesis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0PJ78;Q67GI3;Q86SS1;Q8TAH8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q2TAM9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5EBN2-1", "uniprot_id": [ { "id": "TRI61_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5EBN2", "type": "external" } ], "mass": 24047.0, "length": 209, "protein_name": "Putative tripartite motif-containing protein 61", "gene_name": "TRIM61", "organism": "Human", "refseq_name": "putative tripartite motif-containing protein 61 isoform 2", "refseq_ac": [ { "id": "NP_001012414", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012414", "type": "external" } ], "gene_names_uniprotkb": "TRIM61; RNF35", "gene_names_refseq": "RNF35; TRIM61", "protein_names_uniprotkb": "Putative tripartite motif-containing protein 61; RING finger protein 35", "protein_names_refseq": "putative tripartite motif-containing protein 61 isoform 2; putative tripartite motif-containing protein 61; ring finger protein 35", "tax_id": 9606, "disease": "", "pathway": " (hsa:391712)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;28832583;30379171;31844290;32157095;32357974;33298915;33968037;34561969;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0045087 innate immune response;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q5EBN2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTX7-1", "uniprot_id": [ { "id": "TTPAL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTX7", "type": "external" } ], "mass": 38515.0, "length": 342, "protein_name": "Alpha-tocopherol transfer protein-like", "gene_name": "TTPAL", "organism": "Human", "refseq_name": "alpha-tocopherol transfer protein-like isoform 1", "refseq_ac": [ { "id": "NP_001034288", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034288", "type": "external" } ], "gene_names_uniprotkb": "TTPAL; C20orf121", "gene_names_refseq": "C20orf121; TTPAL", "protein_names_uniprotkb": "Alpha-tocopherol transfer protein-like", "protein_names_refseq": "alpha-tocopherol transfer protein-like isoform 1; tocopherol (alpha) transfer protein-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:79183)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;26375851;27920218;28228285;28832583;28904123;29508533;29632711;30315122;30833945;31018940;31844290;32157095;32938616;32983136;33298915;33968037;34642500;35051231;35580925;36161592", "class_list": "", "function": "High TTPAL expression is associated with Colorectal Tumorigenesis., [RefSeq, PubMed]; Investigation of the expression levels of CDH1, FHIT, PTEN, and TTPAL genes in colorectal tumors., [RefSeq, PubMed]; May act as a protein that binds a hydrophobic ligand., [UniProtKB]; TTPAL promotes gastric tumorigenesis by directly targeting NNMT to activate PI3K/AKT signaling. Erratum:[Oncogene. 2025 May;44(18):1312-1315. doi: 10.1038/s41388-025-03419-8. PMID: 40275094], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1P5X3;Q5QPC1;Q9H1G2;Q9NQG8", "ec_number_list": [], "go_molecular_function": "GO:1902936 phosphatidylinositol bisphosphate binding;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding", "go_cellular_component": "GO:0016020 membrane;GO:0032588 trans-Golgi network membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9BTX7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TCY1-1", "uniprot_id": [ { "id": "TTBK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TCY1", "type": "external" } ], "mass": 142737.0, "length": 1321, "protein_name": "Tau-tubulin kinase 1", "gene_name": "TTBK1", "organism": "Human", "refseq_name": "tau-tubulin kinase 1", "refseq_ac": [ { "id": "NP_115927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115927", "type": "external" } ], "gene_names_uniprotkb": "TTBK1; BDTK; KIAA1855", "gene_names_refseq": "BDTK; TTBK1", "protein_names_uniprotkb": "Tau-tubulin kinase 1; 2.7.11.1; Brain-derived tau kinase", "protein_names_refseq": "brain-derived tau kinase; tau-tubulin kinase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84630)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;16923168;17344846;19118186;20096481;28904123;29409526;29557506;30192525;30556160;32387766;32938616;33228809;33968037;34297427;35051231;36581221;37059819;37938771;38253038", "class_list": "", "function": "Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-219-5p inhibits tau phosphorylation by targeting TTBK1 and GSK-3beta in Alzheimer's disease., [RefSeq, PubMed]; Modulation of tau tubulin kinases (TTBK1 and TTBK2) impacts ciliogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Our findings suggest a possible etiology for the two most common frontotemporal lobar degeneration subtypes through a TTBK1/2 activation driven mechanism of neurodegeneration Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine kinase which is able to phosphorylate TAU on serine, threonine and tyrosine residues. Induces aggregation of TAU., [UniProtKB, PubMed]; TTBK1 in AD brain may be one of the underlying mechanisms inducing CDK5 and calpain activation, NR2B downregulation, and subsequent memory dysfunction., [RefSeq, PubMed]; The structural, functional, and dynamic effect of Tau tubulin kinase1 upon a mutation: A neuro-degenerative hotspot., [RefSeq, PubMed]; This gene belongs to the casein kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates with microtubule assemblies and stabilizes them. Genetic variants in this gene are associated with Alzheimer's disease. [provided by RefSeq, Jul 2016]., [RefSeq]; This study demonistrated that TTBK1 is a promising new candidate tau phosphorylation-related gene for Alzheimer's disease risk. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A2A2U5;Q2L6C6;Q6ZNH0;Q8N444;Q96JH2", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0048156 tau protein binding;GO:0050321 tau-protein kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0043025 neuronal cell body;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007611 learning or memory;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:0061890 positive regulation of astrocyte activation", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q5TCY1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UF1-1", "uniprot_id": [ { "id": "TSN33_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UF1", "type": "external" } ], "mass": 31538.0, "length": 283, "protein_name": "Tetraspanin-33", "gene_name": "TSPAN33", "organism": "Human", "refseq_name": "tetraspanin-33", "refseq_ac": [ { "id": "NP_848657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848657", "type": "external" } ], "gene_names_uniprotkb": "TSPAN33; PEN", "gene_names_refseq": "PEN.; PEN; TSPAN-33; TSPAN33", "protein_names_uniprotkb": "Tetraspanin-33; Penumbra; Proerythroblast new membrane; Tspan-33; hPen", "protein_names_refseq": "penumbra; proerythroblast new membrane; tetraspanin-33", "tax_id": 9606, "disease": "", "pathway": " (hsa:340348); (R-HSA-977225)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10.1101/2023.09.13.557529;10097139;10319874;10391242;10411933;10583407;10956649;11278841;11401442;11467836;11590439;118839;12454989;1270801;14506261;14567678;15064394;15962837;16174740;16213355;16799559;17158226;17425515;18065497;18070888;1837051;18449172;18484335;1849145;19011241;19658395;19828817;20676056;20807650;2118650;2195544;22065755;22131221;23813966;2409350;24190977;24211713;24833601;24893886;25523424;25576301;25880248;26018760;26417681;26668317;26686862;26807092;27846572;279930;28904123;2900981;29557506;3035556;30463011;3053705;3080684;3094007;31217245;3142462;31844290;31958362;32350084;32371390;33141586;33912179;34357683;34932366;35051231;35154160;35580925;3675579;37516108;8033412;8097946;8114934;8159701;8464497;8490014;8870004;9006323;9054935;9862427", "class_list": "", "function": "Cooperative binding of the tandem WW domains of PLEKHA7 to PDZD11 promotes conformation-dependent interaction with tetraspanin 33., [RefSeq, PubMed]; Part of TspanC8 subgroup, composed of 6 members that interact with the transmembrane metalloprotease ADAM10. This interaction is required for ADAM10 exit from the endoplasmic reticulum and for enzymatic maturation and trafficking to the cell surface as well as substrate specificity. Different TspanC8/ADAM10 complexes have distinct substrates (PubMed:26686862, PubMed:30463011, PubMed:37516108). Plays an important role in normal erythropoiesis (By similarity). It has a role in the differentiation of erythroid progenitors (By similarity). Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity (PubMed:26686862). Mediates docking of ADAM10 to zonula adherens by interacting with ADAM10 and, in a PDZD11-dependent manner, with the zonula adherens protein PLEKHA7 (PubMed:30463011)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; TSPAN33 is overexpressed in activated and malignant B cells., [RefSeq, PubMed]; Tetraspanin 33 (TSPAN33) regulates endocytosis and migration of human B lymphocytes by affecting the tension of the plasma membrane., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 9393, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0009986 cell surface;GO:0097197 tetraspanin-enriched microdomain", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0046931 pore complex assembly;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q86UF1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VY4-1", "uniprot_id": [ { "id": "TSYL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VY4", "type": "external" } ], "mass": 45143.0, "length": 417, "protein_name": "Testis-specific Y-encoded-like protein 5", "gene_name": "TSPYL5", "organism": "Human", "refseq_name": "testis-specific Y-encoded-like protein 5", "refseq_ac": [ { "id": "NP_277047", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_277047", "type": "external" } ], "gene_names_uniprotkb": "TSPYL5; KIAA1750", "gene_names_refseq": "TSPYL5", "protein_names_uniprotkb": "Testis-specific Y-encoded-like protein 5; TSPY-like protein 5", "protein_names_refseq": "TSPY-like protein 5; testis-specific Y-encoded-like protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:85453)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "15104674;18059362;18669648;20079711;21170034;23518928;26386860;26811146;28904123;30379171;30429286;30471052;31278054;31844290;32265295;32357974;32627024;33298915;34019948;34171305;34357683;34725712;35051231;35132862;35705054;35772497;36010968;36215666;36284347;38665916;39531497;40307207", "class_list": "", "function": "Aberrant methylation at a CpG island of TSPYL5 may play an important role in development of gastric cancers, [RefSeq, PubMed]; Data identify TSPYL5 as a suppressor of p53 function through its interaction with USP7., [RefSeq, PubMed]; Human testis-specific Y-encoded protein-like protein 5 is a histone H3/H4-specific chaperone that facilitates histone deposition in vitro., [RefSeq, PubMed]; Involved in modulation of cell growth and cellular response to gamma radiation probably via regulation of the Akt signaling pathway. Involved in regulation of p53/TP53. Suppresses p53/TP53 protein levels and promotes its ubiquitination; the function is dependent on USP7 and independent on MDM2. Proposed to displace p53/TP53 from interaction with USP7., [UniProtKB, PubMed, PubMed]; PML depletion suppressed POT1 poly-ubiquitination, suggesting an interplay between USP7 and PML to trigger POT1 degradation in TSPYL5-depleted ALT(+) cells. We demonstrate that ALT telomeres need to be protected from POT1 degradation in ALT-associated PML bodies and identify TSPYL5 as an ALT(+) cancer-specific therapeutic target., [RefSeq, PubMed]; Suggest that hypermethylation of ACP1, BMP4, and TSPYL5 are common events in HCC and could be used as potentially detectable biomarkers in HCC tissues., [RefSeq, PubMed]; TSPYL5 activates endoplasmic reticulum stress to inhibit cell proliferation, migration and invasion in colorectal cancer., [RefSeq, PubMed]; TSPYL5 knockdown decreased, and overexpression increased aromatase (CYP19A1) expression through the skin/adipose (I.4) promoter., [RefSeq, PubMed]; TSPYL5, a novel angiogenic regulator, plays a key role in maintaining endothelial integrity and function., [RefSeq, PubMed]; This study provides the first demonstration that TSPYL5 modulates cell growth and sensitization of cells to the detrimental effects of damaging agents via regulation of p21(WAF1/Cip1) and PTEN/AKT pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KRF0;Q9C0B3", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0051260 protein homooligomerization;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0031398 positive regulation of protein ubiquitination;GO:0006334 nucleosome assembly", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q86VY4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6N2-1", "uniprot_id": [ { "id": "TTC9B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6N2", "type": "external" } ], "mass": 25932.0, "length": 239, "protein_name": "Tetratricopeptide repeat protein 9B", "gene_name": "TTC9B", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 9B", "refseq_ac": [ { "id": "NP_689692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689692", "type": "external" } ], "gene_names_uniprotkb": "TTC9B", "gene_names_refseq": "TTC9B", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 9B; TPR repeat protein 9B", "protein_names_refseq": "TPR repeat protein 9B; tetratricopeptide repeat protein 9B", "tax_id": 9606, "disease": "", "pathway": " (hsa:148014)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "24317310;25576301;26503311;27846572;27862975;28832583;29242379;29331515;29508533;29557506;29632711;30315122;31154438;32357974;32502341;32983136;33123756;33298915;33981976;34932366;35051231;35318648;35580925", "class_list": "", "function": "DNA methylation at early antenatal time points associated with changes in estradiol and allopregnanolone and postpartum depression, [RefSeq, PubMed]; Found two biomarker loci at HP1BP3 and TTC9B, which predicted postpartum depression, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K0I5;Q96NP9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8N6N2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEE8-1", "uniprot_id": [ { "id": "TTC16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEE8", "type": "external" } ], "mass": 98309.0, "length": 873, "protein_name": "Tetratricopeptide repeat protein 16", "gene_name": "TTC16", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 16 isoform 2", "refseq_ac": [ { "id": "NP_001303966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303966", "type": "external" } ], "gene_names_uniprotkb": "TTC16", "gene_names_refseq": "TTC16", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 16; TPR repeat protein 16", "protein_names_refseq": "TPR repeat protein 16; tetratricopeptide repeat protein 16 isoform 2; tetratricopeptide repeat protein 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:158248)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "31844290;33141586;35051231;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DYG4;B5ME24;Q5JU66;Q96M72", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NEE8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TE23-1", "uniprot_id": [ { "id": "TS1R2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TE23", "type": "external" } ], "mass": 95183.0, "length": 839, "protein_name": "Taste receptor type 1 member 2", "gene_name": "TAS1R2", "organism": "Human", "refseq_name": "taste receptor type 1 member 2 precursor", "refseq_ac": [ { "id": "NP_689418", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689418", "type": "external" } ], "gene_names_uniprotkb": "TAS1R2; GPR71; T1R2; TR2", "gene_names_refseq": "GPR71; T1R2; TAS1R2; TR2", "protein_names_uniprotkb": "Taste receptor type 1 member 2; G protein-coupled receptor 71; Sweet taste receptor T1R2", "protein_names_refseq": "G-protein coupled receptor 71; sweet taste receptor T1R2; taste receptor type 1 member 2 precursor; taste receptor, type 1, member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:80834); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 82, "publication_id_list": "10761935;11007482;11208605;11917125;12015988;12120503;12706725;1325650;1329206;14634208;14636554;15194188;15353592;15385606;15576628;15738140;15951850;16633339;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;2534964;25853419;26377607;27071541;2748346;28256214;2834384;29466837;29614098;29659026;29744740;30013099;30418433;30484775;30563861;33392160;33912179;33968037;34087483;35051231;35494241;37817023;39212776;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Altered expression levels of TAS1R2 and TAS1R3 genes among SARS-CoV-2 variants of concerns., [RefSeq, PubMed]; Association between LTF/MMP20/CA6/TAS1R2 polymorphisms and susceptibility to dental caries. Publication Status: Online-Only, [RefSeq, PubMed]; Putative taste receptor. TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners., [UniProtKB]; Sweet and umami taste are strictly dependent on T1R-receptors, and show that selective elimination of T1R-subunits differentially abolishes detection and perception of these two taste modalities, [RefSeq, PubMed]; The mechanism of interaction of the sweet protein monellin with the T1R2-T1R3 receptor., [RefSeq, PubMed]; Water rinses remove the inhibitor from the heteromeric sweetener receptor TAS1R2-TAS1R3, which activates cells and results in the perception of strong sweetness from pure water, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 79, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q5TZ19", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0033041 sweet taste receptor activity;GO:0008527 taste receptor activity", "go_cellular_component": "GO:1903767 sweet taste receptor complex;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0001582 detection of chemical stimulus involved in sensory perception of sweet taste;GO:0007186 G protein-coupled receptor signaling pathway;GO:0032467 positive regulation of cytokinesis;GO:0050916 sensory perception of sweet taste", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q8TE23-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWH5-1", "uniprot_id": [ { "id": "TRUB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWH5", "type": "external" } ], "mass": 37253.0, "length": 349, "protein_name": "Pseudouridylate synthase TRUB1", "gene_name": "TRUB1", "organism": "Human", "refseq_name": "pseudouridylate synthase TRUB1", "refseq_ac": [ { "id": "NP_631908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_631908", "type": "external" } ], "gene_names_uniprotkb": "TRUB1; PUS4", "gene_names_refseq": "PUS4; TRUB1", "protein_names_uniprotkb": "Pseudouridylate synthase TRUB1; 5.4.99.-; 5.4.99.25; Psi55 synthase TRUB1; TruB pseudouridine synthase homolog 1; tRNA pseudouridine 55 synthase TRUB1", "protein_names_refseq": "TruB pseudouridine (psi) synthase family member 1; TruB pseudouridine (psi) synthase homolog 1; probable tRNA pseudouridine synthase 1; pseudouridylate synthase TRUB1; psi55 synthase TRUB1; tRNA pseudouridine 55 synthase TRUB1; truB pseudouridine synthase homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:142940)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "12736709;16385451;20068231;22223895;23186163;23301498;23481700;24715725;25576301;26154972;26992070;27846572;28073919;28228285;28510447;28832583;28834231;28904123;29242379;29632711;30315122;30379171;30429286;30779550;30833945;31154438;31477916;31530632;31844290;31848261;31937595;31998317;32157095;32387766;32488085;32502341;32926445;32938616;33023933;33141586;33298915;33392160;33717175;33936100;33968037;34087483;34509645;34561969;34932366;35051231;35254053;35580925;35705054;36010968;36018806;36241641;36302989;38776834;40596516", "class_list": "", "function": "Human TRUB1 is a highly conserved pseudouridine synthase responsible for the formation of Psi55 in mitochondrial tRNAAsn, tRNAGln, tRNAGlu and tRNAPro., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]., [RefSeq]; Pseudouridine synthase that catalyzes pseudouridylation of mRNAs and tRNAs (PubMed:28073919, PubMed:31477916, PubMed:32926445). Mediates pseudouridylation of mRNAs with the consensus sequence 5'-GUUCNANNC-3', harboring a stem-loop structure (PubMed:28073919, PubMed:31477916). Constitutes the major pseudouridine synthase acting on mRNAs (PubMed:28073919). Also catalyzes pseudouridylation of some tRNAs, including synthesis of pseudouridine(55) from uracil-55, in the psi GC loop of a subset of tRNAs (PubMed:32926445, PubMed:33023933). Promotes the processing of pri-let-7 microRNAs (pri-miRNAs) independently of its RNA pseudouridylate synthase activity (PubMed:32926445). Acts by binding to the stem-loop structure on pri-let-7, preventing LIN28-binding (LIN28A and/or LIN28B), thereby enhancing the interaction between pri-let-7 and the microprocessor DGCR8, which mediates miRNA maturation (PubMed:32926445)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Quantitative sequencing using BID-seq uncovers abundant pseudouridines in mammalian mRNA at base resolution., [RefSeq, PubMed]; Structural basis of pri-let-7 recognition by human pseudouridine synthase TruB1., [RefSeq, PubMed]; TRUB1 gene encodes a 349-amino acid product, with a VFAVHKPKGPTSA box in positions 71-83 corresponding to motif I of the TruB family, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2R716;Q53ES2", "ec_number_list": [ { "id": "5.4.99.25", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.25", "type": "external" }, { "id": "5.4.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.-", "type": "external" }, { "id": "5.4.99.42", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.42", "type": "external" }, { "id": "5.4.99.28", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.28", "type": "external" }, { "id": "5.4.99.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.12", "type": "external" } ], "go_molecular_function": "GO:0009982 pseudouridine synthase activity;GO:0070883 pre-miRNA binding;GO:0160148 tRNA pseudouridine(55) synthase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0031119 tRNA pseudouridine synthesis;GO:0006397 mRNA processing;GO:0006400 tRNA modification;GO:1990481 mRNA pseudouridine synthesis;GO:2000633 positive regulation of pre-miRNA processing", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q8WWH5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92623-1", "uniprot_id": [ { "id": "TTC9A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92623", "type": "external" } ], "mass": 24379.0, "length": 222, "protein_name": "Tetratricopeptide repeat protein 9A", "gene_name": "TTC9", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 9A", "refseq_ac": [ { "id": "NP_056166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056166", "type": "external" } ], "gene_names_uniprotkb": "TTC9; KIAA0227; TTC9A", "gene_names_refseq": "TTC9A; TTC9", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 9A; TPR repeat protein 9A", "protein_names_refseq": "TPR repeat protein 9A; tetratricopeptide repeat protein 9A", "tax_id": 9606, "disease": "opiate dependence (Disease Ontology:DOID:2559)", "pathway": " (hsa:23508)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "18699990;23186163;25798063;25880248;26375851;27846572;27862975;29557506;30315122;30325323;31844290;32157095;32357974;32502341;32983136;33981976;35051231;35132862;35318648;38293978", "class_list": "", "function": "In this study, we propose a molecular mechanism whereby TTC9 mutations function to generate ichthyosiform hyperkeratosis of the skin, either directly or indirectly through altered myofibroblasts and altered hormone regulation., [RefSeq, PubMed]; It is plausible therefore that TTC9A negatively regulates ERalpha activity through interacting with co-chaperone proteins such as FKBP38 and FKBP51. Publication Status: Online-Only, [RefSeq, PubMed]; TTC9A acts as a chaperone protein to facilitate the function of tropomyosins (including Tm5NM-1) in stabilizing microfilament and it may play a role in cancer cell invasion and metastasis Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that contains three tetratricopeptide repeats. The gene has been shown to be hormonally regulated in breast cancer cells and may play a role in cancer cell invasion and metastasis. [provided by RefSeq, Mar 2009]., [RefSeq]; [A pan-cancer analysis of TTC9A expression level and its correlation with prognosis and immune microenvironment]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86WT2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q92623-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BY10-1", "uniprot_id": [ { "id": "S46A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BY10", "type": "external" } ], "mass": 51067.0, "length": 475, "protein_name": "Solute carrier family 46 member 2", "gene_name": "SLC46A2", "organism": "Human", "refseq_name": "solute carrier family 46 member 2", "refseq_ac": [ { "id": "NP_149040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149040", "type": "external" } ], "gene_names_uniprotkb": "SLC46A2; TSCOT", "gene_names_refseq": "Ly110; SLC46A2; TSCOT", "protein_names_uniprotkb": "Solute carrier family 46 member 2; Thymic stromal cotransporter homolog", "protein_names_refseq": "solute carrier family 46 member 2; thymic stromal co-transporter; thymic stromal cotransporter homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:57864)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10978518;11237011;18392855;23481700;28539433;33968037;34087483;34235268;35051231;35494241;35580925;37116499;37163988", "class_list": "", "function": "Affected sib-pairs with cervical cancer susceptibility and high mean age at diagnosis show increased sharing at all microsatellite markers at 9q31.1-33.1 and linkage signals of up to maximum lod-score of 2.74 for TSCOT single nucleotide polymorphisms., [RefSeq, PubMed]; Mammalian SLC46A2s promote tracheal cytotoxin -triggered NOD1 activation in human epithelial cell lines, indicating that SLC46As is a conserved group of peptidoglycan transporter contributing to cytosolic immune recognition, [RefSeq, PubMed]; Proton-coupled transporter that delivers pathogen-associated or danger-associated molecular patterns to cytosolic pattern recognition receptors as part of the innate immune response to microbes or tissue injury (PubMed:28539433, PubMed:34235268). Has selectivity toward muropeptides that contain the amino acid diaminopimelic acid (DAP-type peptidoglycan muropeptides) including Tri-DAP and tracheal toxin (TCT), common in Gram-negative bacteria and Gram-positive bacilli. In the context of immune recognition of skin microbiota, shuttles bacterial muropeptides across the endolysosomal membranes into the cytosol for recognition by NOD1, triggering MYD88-dependent secretion of IL1A and neutrophil recruitment in a pyroptosis-type inflammatory process (PubMed:28539433). To a lesser extent and redundantly, transports muramyl dipeptides derived from most bacterial proteoglycans, eliciting NOD2 receptor activation and downstream inflammatory responses (PubMed:28539433). Postulated to function as a dominant importer of cyclic GMP-AMP dinucleotides (cGAMPs) in monocyte and macrophage cell lineages. Selectively imports cGAMPs derived from pathogenic bacteria such as 3'3'-cGAMP thus providing for differential immune recognition of pathogenic versus commensal bacteria. During tumorigenesis may transport extracellular tumor-derived 2'3'-cGAMP across the plasma membrane of M1-polarized macrophages to activate the anti-tumoral stimulator of interferon genes (STING) pathway (PubMed:34235268). The transport mechanism, its electrogenicity and stoichiometry remain to be elucidated (Probable)., [UniProtKB, PubMed, PubMed]; When SLC46A2 delivers cargo into keratinocytes., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B1ALK1;Q86VT0;Q96NE2", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015293 symporter activity;GO:0140360 cyclic-GMP-AMP transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0070430 positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway;GO:0045087 innate immune response;GO:0055085 transmembrane transport;GO:0140361 cyclic-GMP-AMP transmembrane import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9BY10-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZ97-1", "uniprot_id": [ { "id": "TTY13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZ97", "type": "external" } ], "mass": 6256.0, "length": 58, "protein_name": "Putative transcript Y 13 protein", "gene_name": "TTTY13", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TTTY13; TTY13", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative transcript Y 13 protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q9BZ97-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZ98-1", "uniprot_id": [ { "id": "TTY12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZ98", "type": "external" } ], "mass": 10490.0, "length": 90, "protein_name": "Putative transcript Y 12 protein", "gene_name": "TTTY12", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TTTY12; TTY12", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative transcript Y 12 protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q9BZ98-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZA0-1", "uniprot_id": [ { "id": "TTY10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZA0", "type": "external" } ], "mass": 7782.0, "length": 68, "protein_name": "Putative transcript Y 10 protein", "gene_name": "TTTY10", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TTTY10; TTY10", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative transcript Y 10 protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q9BZA0-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0U9-1", "uniprot_id": [ { "id": "TSYL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0U9", "type": "external" } ], "mass": 49192.0, "length": 437, "protein_name": "Testis-specific Y-encoded-like protein 1", "gene_name": "TSPYL1", "organism": "Human", "refseq_name": "testis-specific Y-encoded-like protein 1", "refseq_ac": [ { "id": "NP_003300", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003300", "type": "external" } ], "gene_names_uniprotkb": "TSPYL1; TSPYL", "gene_names_refseq": "TSPYL1; TSPYL", "protein_names_uniprotkb": "Testis-specific Y-encoded-like protein 1; TSPY-like protein 1", "protein_names_refseq": "TSPY-like protein 1; testis-specific Y-encoded-like protein 1", "tax_id": 9606, "disease": "gonadal dysgenesis (Disease Ontology:DOID:14447); sudden infant death syndrome (Disease Ontology:DOID:9007); sudden infant death-dysgenesis of the testes syndrome (MONDO:MONDO:0012124)", "pathway": " (hsa:7259)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "11230166;12429849;15273283;16418600;20068231;23481700;25418920;25449952;25469497;25892735;26154972;26929215;26992070;27846572;27862975;28228285;28832583;28834231;28847364;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;29779948;29786170;30315122;30429286;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32265295;32387766;32502341;32897882;32938616;32983136;33075815;33298915;33537174;33592498;33691108;33912179;33968037;33981976;34078123;34087483;34171305;34509645;34932366;35051231;35580925;36010968;36284347;37938771;38588050;9730615", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results show that mutations and polymorphisms in the TSPYL1 gene were not associated with sudden infant death syndrome in a cohort of 165 deceased Swiss infants., [RefSeq, PubMed]; TSPYL1 as a Critical Regulator of TGFbeta Signaling through Repression of TGFBR1 and TSPYL2., [RefSeq, PubMed]; The expression of spermatogenic phenotypes of TSPY1 defects is independent of variations in TSPYL1 and TSPYL5 in the Han Chinese population., [RefSeq, PubMed]; The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]., [RefSeq]; Unravelling the disease mechanism for TSPYL1 deficiency., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O75885;Q5TFE6", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0019899 enzyme binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000785 chromatin", "go_biological_process": "GO:0006334 nucleosome assembly", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9H0U9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NX07-1", "uniprot_id": [ { "id": "TSAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NX07", "type": "external" } ], "mass": 32499.0, "length": 287, "protein_name": "tRNA selenocysteine 1-associated protein 1", "gene_name": "TRNAU1AP", "organism": "Human", "refseq_name": "tRNA selenocysteine 1-associated protein 1", "refseq_ac": [ { "id": "NP_060316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060316", "type": "external" } ], "gene_names_uniprotkb": "TRNAU1AP; SECP43; TRSPAP1", "gene_names_refseq": "PRO1902; SECP43; TRNAU1AP; TRSPAP1", "protein_names_uniprotkb": "tRNA selenocysteine 1-associated protein 1; SECp43; tRNA selenocysteine-associated protein 1", "protein_names_refseq": "tRNA selenocysteine 1-associated protein 1; tRNA selenocysteine associated protein (SECP43); tRNA selenocysteine-associated protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54952)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "16508009;18991276;24715725;25576301;25880248;27920218;28228285;28414460;28832583;29242379;29493099;29557506;29632046;29758194;30315122;30429286;30484775;30524438;30779550;30833945;31154438;31844290;31848261;31998317;32157095;32161166;32357974;32897882;32938616;32983136;33592498;33691108;33912179;33968037;33981976;34171305;34185709;34932366;35051231;35318648;35561310;35580925;36010968;36215666;37938771", "class_list": "", "function": "Data confirm interactions among components of the early steps of the selenocysteine biosynthesis pathway (SEPSECS, SECP43, SEPHS1, and SEPHS2); SECP43, which interacts with SEPSECS and SEPHS1, is a globular protein that forms oligomers in vivo., [RefSeq, PubMed]; Involved in the early steps of selenocysteine biosynthesis and tRNA(Sec) charging to the later steps resulting in the cotranslational incorporation of selenocysteine into selenoproteins (PubMed:16508009). Stabilizes the SECISBP2, EEFSEC and tRNA(Sec) complex (PubMed:16508009). May be involved in the methylation of tRNA(Sec) (PubMed:16508009). Enhances efficiency of selenoproteins synthesis (PubMed:16508009)., [UniProtKB, PubMed]; Knockdown of Trnau1ap reduced cell migration and proliferation. Knockdown of Trnau1ap blocked the PI3K/Akt signaling pathway., [RefSeq, PubMed]; Our studies delineating the multiple, coordinated protein-nucleic acid interactions between SECp43 and the selenoprotein cotranslational factors., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, 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"protein_name": "Immunoglobulin heavy variable 3/OR16-10 (non-functional)", "gene_name": "IGHV3OR16-10", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV3OR16-10", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 3/OR16-10 (non-functional)", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "11237011;35580925", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, 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"record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A087WV53-1", "uniprot_id": [ { "id": "SPEGN_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A087WV53", "type": "external" } ], "mass": 26075.0, "length": 238, "protein_name": "SPEG neighbor protein", "gene_name": "SPEGNB", "organism": "Human", "refseq_name": "SPEG neighbor protein", "refseq_ac": [ { "id": "NP_001273740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273740", "type": "external" } ], "gene_names_uniprotkb": "SPEGNB", "gene_names_refseq": "SPEGNB", "protein_names_uniprotkb": "SPEG neighbor protein", "protein_names_refseq": "SPEG neighbor protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:100996693)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, 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"secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004672 protein kinase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A087WV53-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0J9YW62-1", "uniprot_id": [ { "id": "A0A0J9YW62_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0J9YW62", "type": "external" } ], "mass": 13250.0, "length": 118, "protein_name": "Immunoglobulin V-set domain-containing protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin V-set domain-containing protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", 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"biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A0J9YW62-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0J9YVP9-1", "uniprot_id": [ { "id": "A0A0J9YVP9_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0J9YVP9", "type": "external" } ], "mass": 1905.0, "length": 17, "protein_name": "Immunoglobulin heavy joining 5", "gene_name": "IGHJ5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHJ5", 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"ETDC_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM5", "type": "external" } ], "mass": 6800.0, "length": 59, "protein_name": "Embryonic testis differentiation protein homolog C", "gene_name": "ETDC", "organism": "Human", "refseq_name": "embryonic testis differentiation protein homolog C", "refseq_ac": [ { "id": "NP_001345378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001345378", "type": "external" } ], "gene_names_uniprotkb": "ETDC", "gene_names_refseq": "ETDC", "protein_names_uniprotkb": "Embryonic testis differentiation protein homolog C", "protein_names_refseq": "embryonic testis differentiation protein homolog C", "tax_id": 9606, "disease": "", "pathway": " (hsa:110806299)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 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"go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1B0GVM5-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PF2-1", "uniprot_id": [ { "id": "TSSK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PF2", "type": "external" } ], "mass": 40939.0, "length": 358, "protein_name": "Testis-specific serine/threonine-protein kinase 2", "gene_name": "TSSK2", "organism": "Human", "refseq_name": "testis-specific serine/threonine-protein kinase 2", "refseq_ac": [ { "id": "NP_443732", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443732", "type": "external" } ], "gene_names_uniprotkb": "TSSK2; DGSG; SPOGA2; STK22B", "gene_names_refseq": "DGS-G; SPOGA2; STK22B; TSK2; TSSK2", "protein_names_uniprotkb": "Testis-specific serine/threonine-protein kinase 2; 2.7.11.1; DGS-G; DiGeorge syndrome protein G; Serine/threonine-protein kinase 22B; TSK-2; TSK2; TSSK-2; Testis-specific kinase 2", "protein_names_refseq": "TSK-2; TSSK-2; diGeorge syndrome protein G; serine/threonine kinase 22B (spermiogenesis associated); serine/threonine-protein kinase 22B; spermiogenesis associated 2; testicular secretory protein Li 61; testis specific serine threonine kinase 2; testis-specific kinase 2; testis-specific serine/threonine-protein kinase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23617)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "15044604;17344846;17566264;18495105;18533145;19926886;20729278;23258646;26777341;30379171;35051231;8776594", "class_list": "", "function": "Data show that human testis-specific serine/threonine (Ser/Thr) kinase (TSSK) 1 and 2 messages are expressed exclusively in the testis and suggest that this family of kinases might play a role in sperm function., [RefSeq, PubMed]; N vitro phosphorylation experiments carried out with TSKS (isoform 1) fragments revealed particularly strong phosphorylation of a recombinant N-terminal region representing aa 1-150 of TSKS, indicating that the N-terminus of human TSKS is phosphorylated by human TSSK2., [RefSeq, PubMed]; Report evolution of testis-specific kinases TSSK1B and TSSK2 in primates., [RefSeq, PubMed]; TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]., [RefSeq]; Testis-specific serine/threonine-protein kinase required during spermatid development. Phosphorylates TSKS at 'Ser-288' and SPAG16. Involved in the late stages of spermatogenesis, during the reconstruction of the cytoplasm. 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Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. 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Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A075B700-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A096LPG2-1", "uniprot_id": [ { "id": "A0A096LPG2_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A096LPG2", "type": "external" } ], "mass": 2704.0, "length": 23, "protein_name": "Uncharacterized protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A096LPG2-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DPI2-1", "uniprot_id": [ { "id": "GAL3A_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DPI2", "type": "external" } ], "mass": 28170.0, "length": 268, "protein_name": "Glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial", "gene_name": "GATD3", "organism": "Human", "refseq_name": "glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_004640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004640", "type": "external" } ], "gene_names_uniprotkb": "GATD3; C21orf33; GATD3A", "gene_names_refseq": "C21orf33; ES1; GATD3A; GATD3B; GATD3; GT335; HES1; KNPH; KNPI", "protein_names_uniprotkb": "Glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial", "protein_names_refseq": "ES1 protein homolog, mitochondrial; Keio novel protein I; Protein GT335; Protein HES1; Putative glutamine amidotransferase-like class 1 domain-containing protein 3B, mitochondrial; glutamine amidotransferase class 1 domain containing 3A; glutamine amidotransferase like class 1 domain containing 3A; glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial isoform 1 precursor; glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial; glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial; human HES1 protein, homolog to E.coli and zebrafish ES1 protein; testis secretory sperm-binding protein Li 237E", "tax_id": 9606, "disease": "", "pathway": " (hsa:8209)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;1286669;15082224;30429286;32357974;32502341;33141586;35307029;39738099;9205129", "class_list": "", "function": "Acts as a mitochondrial deglycase involved in the removal of early non-enzymatic glycation adducts from amino acids and nucleotides, thereby restricting the formation of advanced glycation end products (AGEs) within mitochondria (PubMed:35307029). Required to maintain low levels of glycation on mitochondrial ribosomal RNA and proteins, supporting efficient mitochondrial gene expression. Contributes to mitochondrial homeostasis, normal respiratory capacity, and proper mitochondrial network organization. Acts also as a mitochondrial regulator of malate dehydrogenase MDH2 by competitively limiting the association of MDH2 with the mitochondrial deacetylase SIRT3, thereby preserving MDH2 acetylation and enzymatic activity. Through this mechanism, supports efficient conversion of malate to oxaloacetate, sustaining TCA cycle continuity and oxidative phosphorylation (PubMed:39738099)., [UniProtKB, PubMed, PubMed]; ES1 protein expression was two-fold elevated (P < 0.01) in fetal Down syndrome brain compared to controls and may be a candidate protein involved in the pathogenesis of the brain deficit in DS., [RefSeq, PubMed]; This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NFJ6;A6NJY7;O00650;O00660;O15011;O15012;P30042;P55346;P78474;Q92505;Q92507", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "P0DPI2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A584-1", "uniprot_id": [ { "id": "TVBK2_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A584", "type": "external" } ], "mass": 12743.0, "length": 115, "protein_name": "T cell receptor beta variable 11-2", "gene_name": "TRBV11-2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV11-2; TCRBV21S3A2N2T", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 11-2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;35580925;8650574", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. 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Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. 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Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. 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Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (Probable)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0031492 nucleosomal DNA binding;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000776 kinetochore;GO:0000786 nucleosome", "go_biological_process": "GO:0051382 kinetochore assembly;GO:0007080 mitotic metaphase chromosome alignment;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0DPK5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A2R8YD15-1", "uniprot_id": [ { "id": "A0A2R8YD15_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A2R8YD15", "type": "external" } ], "mass": 4284.0, "length": 34, "protein_name": "Uncharacterized protein", "gene_name": "", "organism": "Human", "refseq_name": "uncharacterized LOC128125814", "refseq_ac": [ { "id": "NP_001401920", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001401920", "type": "external" } ], "gene_names_uniprotkb": "", "gene_names_refseq": "LOC128125814", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "uncharacterized LOC128125814", "tax_id": 9606, "disease": "", "pathway": " (hsa:128125814)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A2R8YD15-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A2R8Y4L6-1", "uniprot_id": [ { "id": "OR5D3_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A2R8Y4L6", "type": "external" } ], "mass": 36507.0, "length": 323, "protein_name": "Olfactory receptor 5D3", "gene_name": "OR5D3", "organism": "Human", "refseq_name": "olfactory receptor 5D3", "refseq_ac": [ { "id": "NP_001382988", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382988", "type": "external" } ], "gene_names_uniprotkb": "OR5D3; OR5D3P; OR5D4", "gene_names_refseq": "OR11-8b; OR11-8c; OR5D3P; OR5D3; OR5D4", "protein_names_uniprotkb": "Olfactory receptor 5D3; Olfactory receptor family 5 subfamily D member 3 pseudogene", "protein_names_refseq": "olfactory receptor 5D3; olfactory receptor OR11-140; olfactory receptor OR5D3; olfactory receptor family 5 subfamily D member 3 pseudogene; olfactory receptor, family 5, subfamily D, member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:8594)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A2R8Y4L6-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6Z5-1", "uniprot_id": [ { "id": "A0A075B6Z5_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6Z5", "type": "external" } ], "mass": 2217.0, "length": 21, "protein_name": "T cell receptor alpha joining 4", "gene_name": "TRAJ4", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAJ4", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 4", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A075B6Z5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0B4J272-1", "uniprot_id": [ { "id": "TVA24_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0B4J272", "type": "external" } ], "mass": 12919.0, "length": 114, "protein_name": "T cell receptor alpha variable 24", "gene_name": "TRAV24", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAV24", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha variable 24", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex", "go_biological_process": "GO:0009617 response to bacterium;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0B4J272-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0G2JLW4-1", "uniprot_id": [ { "id": "A0A0G2JLW4_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0G2JLW4", "type": "external" } ], "mass": 14828.0, "length": 131, "protein_name": "Uncharacterized protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "33912179", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A0G2JLW4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "D6RGX4-1", "uniprot_id": [ { "id": "F90AP_HUMAN", "url": "https://www.uniprot.org/uniprot/D6RGX4", "type": "external" } ], "mass": 49883.0, "length": 464, "protein_name": "Protein FAM90A26", "gene_name": "FAM90A26", "organism": "Human", "refseq_name": "protein FAM90A26", "refseq_ac": [ { "id": "NP_001345347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001345347", "type": "external" } ], "gene_names_uniprotkb": "FAM90A26; 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FABPL", "gene_names_refseq": "FABP1; FABPL; L-FABP", "protein_names_uniprotkb": "Fatty acid-binding protein, liver; Fatty acid-binding protein 1; L-FABP; Liver-type fatty acid-binding protein", "protein_names_refseq": "fatty acid binding protein 1, liver; fatty acid-binding protein, liver; liver-type fatty acid-binding protein", "tax_id": 9606, "disease": "renal fibrosis (Disease Ontology:DOID:0050855); hypertension (Disease Ontology:DOID:10763); IgA glomerulonephritis (Disease Ontology:DOID:2986); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:2168); (R-HSA-163560); (R-HSA-189483); (R-HSA-1989781); (R-HSA-400206); (R-HSA-9707564)", "pathway_count": 6, "publication_count": 97, "publication_id_list": "10421658;10494028;10529898;10620517;10644574;10671541;10777541;11023036;11134001;11226238;11237011;11267664;11330046;11397817;1157293;11779144;12118000;12177166;12505311;12582161;12832420;12969439;14980219;15001581;15004565;15067378;15130092;15245331;15364929;15456755;15635043;16380219;16476485;16503871;16568091;16741517;16972786;17007889;17264172;17306620;17536800;17603008;18288277;18292238;18540824;18719978;18848529;19088433;19181555;19289416;19690164;19710929;19934321;19968714;20110263;20166139;20929863;21504868;21889235;22232210;22381047;22427940;22823425;24196956;24275569;25732850;27071062;2713875;28514659;28698372;29557506;29789417;31844290;34019948;34185709;3427020;3475708;35580925;36284347;36758511;37026586;37499886;38246168;3838309;3838313;38617005;4980931;6094553;7372607;7685352;7892212;8386511;8647822;9012850;9171241;9748239;9836620", "class_list": "", "function": "Association between the rs2241883 polymorphism of the fatty acid-binding protein-1 (FABP1) gene and obesity in a population of MASHAD study cohort., [RefSeq, PubMed]; Binds free fatty acids and their coenzyme A derivatives, bilirubin, and some other small molecules in the cytoplasm. Involved in intracellular lipid transport., [UniProtKB, UniProtKB]; Derlin-1 ameliorates nonalcoholic hepatic steatosis by promoting ubiquitylation and degradation of FABP1., [RefSeq, PubMed]; Fatty Acid Binding Protein 1 is an Independent Prognostic Biomarker for Gallbladder Cancer with Direct Hepatic Invasion. Publication Status: Online-Only, [RefSeq, PubMed]; Fatty acid binding protein 1 (FABP1) and fatty acid binding protein 2 (FABP2) as a link between diabetic nephropathy and subclinical atherosclerosis in children and adolescents with type 1 diabetes., [RefSeq, PubMed]; Plays a role in lipoprotein-mediated cholesterol uptake in hepatocytes (PubMed:25732850). Binds cholesterol (PubMed:25732850). Binds free fatty acids and their coenzyme A derivatives, bilirubin, and some other small molecules in the cytoplasm. May be involved in intracellular lipid transport (By similarity)., [UniProtKB, UniProtKB, PubMed]; This gene encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. This protein and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Mar 2011]., [RefSeq]; Unravelling the role of urinary liver-type fatty acid binding protein in histone-induced AKI., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, 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"filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GWI6-1", "uniprot_id": [ { "id": "CX49C_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GWI6", "type": "external" } ], "mass": 55104.0, "length": 518, "protein_name": "Uncharacterized protein CXorf49C", "gene_name": "CXorf49C; LOC101059915", "organism": "Human", "refseq_name": "uncharacterized protein CXorf49C", "refseq_ac": [ { "id": "NP_001310004", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310004", "type": "external" } ], "gene_names_uniprotkb": "CXorf49C; LOC101059915", "gene_names_refseq": "CXorf49C", "protein_names_uniprotkb": "Uncharacterized protein CXorf49C", "protein_names_refseq": "chromosome X open reading frame 49-like; uncharacterized protein CXorf49-like; uncharacterized protein CXorf49C", "tax_id": 9606, "disease": "", "pathway": " (hsa:101059915)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;32938616", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0A1B0GWI6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GW54-1", "uniprot_id": [ { "id": "SIM39_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GW54", "type": "external" } ], "mass": 5955.0, "length": 56, "protein_name": "Small integral membrane protein 39", "gene_name": "SMIM39", "organism": "Human", "refseq_name": "small integral membrane protein 39", "refseq_ac": [ { "id": "NP_001401823", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001401823", "type": "external" } ], "gene_names_uniprotkb": "SMIM39", "gene_names_refseq": "SMIM39", "protein_names_uniprotkb": "Small integral membrane protein 39", "protein_names_refseq": "small integral membrane protein 39", "tax_id": 9606, "disease": "", "pathway": " (hsa:113523639)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0A1B0GW54-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6N2-1", "uniprot_id": [ { "id": "TVBT1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6N2", "type": "external" } ], "mass": 12175.0, "length": 111, "protein_name": "T cell receptor beta variable 20-1", "gene_name": "TRBV20-1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV20-1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 20-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;31611695", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, 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Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. 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The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. 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Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. 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Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex", "go_biological_process": "GO:0009617 response to bacterium;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A075B6V5-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0B4J266-1", "uniprot_id": [ { "id": "TVA41_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0B4J266", "type": "external" } ], "mass": 12352.0, "length": 112, "protein_name": "T cell receptor alpha variable 41", "gene_name": "TRAV41", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAV41", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha variable 41", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;33298915", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex", "go_biological_process": "GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A0B4J266-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0G2JNF4-1", "uniprot_id": [ { "id": "A0A0G2JNF4_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0G2JNF4", "type": "external" } ], "mass": 38651.0, "length": 349, "protein_name": "Killer cell immunoglobulin like receptor, two Ig domains pseudogene 1", "gene_name": "KIR2DP1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "KIR2DP1", "gene_names_refseq": "", "protein_names_uniprotkb": "Killer cell immunoglobulin like receptor, two Ig domains pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A0G2JNF4-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A140TA64-1", "uniprot_id": [ { "id": "A0A140TA64_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A140TA64", "type": "external" } ], "mass": 22491.0, "length": 210, "protein_name": "Uncharacterized protein", "gene_name": "LOC100996750", "organism": "Human", "refseq_name": "keratin-associated protein 4-7", "refseq_ac": [ { "id": "NP_001352181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001352181", "type": "external" } ], "gene_names_uniprotkb": "LOC100996750", "gene_names_refseq": "KAP4.7; KRTAP4-7; KRTAP4.7; LOC100996750", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "Keratin-associated protein 4.7; Ultrahigh sulfur keratin-associated protein 4.7; keratin-associated protein 4-7", "tax_id": 9606, "disease": "", "pathway": " (hsa:100996750)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "GO:0042633 hair cycle", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A140TA64-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1W2PPW3-1", "uniprot_id": [ { "id": "TFKLL_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1W2PPW3", "type": "external" } ], "mass": 21787.0, "length": 197, "protein_name": "TATA-box-binding protein-associated factor 11-like protein 12", "gene_name": "TAF11L12", "organism": "Human", "refseq_name": "TATA-box-binding protein-associated factor 11-like protein 12", "refseq_ac": [ { "id": "NP_001388615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001388615", "type": "external" } ], "gene_names_uniprotkb": "TAF11L12", "gene_names_refseq": "TAF11L12", "protein_names_uniprotkb": "TATA-box-binding protein-associated factor 11-like protein 12", "protein_names_refseq": "TATA-box-binding protein-associated factor 11-like protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:112488739)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "21078170", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0051123 RNA polymerase II preinitiation complex assembly", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1W2PPW3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1W2PQC6-1", "uniprot_id": [ { "id": "S72L4_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1W2PQC6", "type": "external" } ], "mass": 22497.0, "length": 194, "protein_name": "RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 4", "gene_name": "SSU72L4", "organism": "Human", "refseq_name": "RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 4", "refseq_ac": [ { "id": "NP_001400930", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001400930", "type": "external" } ], "gene_names_uniprotkb": "SSU72L4", "gene_names_refseq": "SSU72L4; SSU72P4", "protein_names_uniprotkb": "RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 4; 3.1.3.16; CTD phosphatase SSU72L4; RNA polymerase II subunit A C-terminal domain phosphatase SSU72L4", "protein_names_refseq": "CTD phosphatase SSU72L4; RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 4; RNA polymerase II subunit A C-terminal domain phosphatase SSU72L4; SSU72 RNA polymerase II CTD phosphatase homolog pseudogene 4; SSU72 pseudogene 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:441584)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Protein phosphatase that catalyzes the dephosphorylation of the C-terminal domain of RNA polymerase II. Plays a role in RNA processing and termination., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0008420 RNA polymerase II CTD heptapeptide repeat phosphatase activity", "go_cellular_component": "GO:0005847 mRNA cleavage and polyadenylation specificity factor complex", "go_biological_process": "GO:0006369 termination of RNA polymerase II transcription;GO:0031124 mRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1W2PQC6-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1W2PR82-1", "uniprot_id": [ { "id": "PERC1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1W2PR82", "type": "external" } ], "mass": 29212.0, "length": 267, "protein_name": "Protein PERCC1", "gene_name": "PERCC1", "organism": "Human", "refseq_name": "protein PERCC1", "refseq_ac": [ { "id": "NP_001352239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001352239", "type": "external" } ], "gene_names_uniprotkb": "PERCC1", "gene_names_refseq": "DIAR11; ICR; PERCC1; gs104", "protein_names_uniprotkb": "Protein PERCC1; Proline and glutamage-rich protein with a coiled coil domain", "protein_names_refseq": "proline and glutamage-rich protein with a coiled coil domain; protein LOC105371045; protein PERCC1", "tax_id": 9606, "disease": "congenital diarrhea (Disease Ontology:DOID:0060774); diarrhea 11, malabsorptive, congenital (MONDO:MONDO:0032857)", "pathway": " (hsa:105371045)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "31217582;36076104", "class_list": "", "function": "Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy., [RefSeq, PubMed]; Plays a critical role in intestinal function (PubMed:31217582). Acts by promoting the development of enteroendocrine cells (EECs) of the gastrointestinal tract and pancreas (By similarity). It is thereby required for normal enteroendocrine peptide hormone secretion (By similarity)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96RY9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0048546 digestive tract morphogenesis;GO:0035883 enteroendocrine cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0A1W2PR82-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6W7-1", "uniprot_id": [ { "id": "A0A075B6W7_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6W7", "type": "external" } ], "mass": 2207.0, "length": 21, "protein_name": "T cell receptor alpha joining 38", "gene_name": "TRAJ38", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAJ38", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 38", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A075B6W7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0A6YYK7-1", "uniprot_id": [ { "id": "TVA19_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0A6YYK7", "type": "external" } ], "mass": 13195.0, "length": 116, "protein_name": "T cell receptor alpha variable 19", "gene_name": "TRAV19", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAV19", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha variable 19; T-cell receptor alpha chain V region HPB-MLT", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-198933); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-389948)", "pathway_count": 6, "publication_count": 159, "publication_id_list": "10499918;10671560;10698680;10716940;10746781;10747096;10790433;10811803;11048639;11265639;11358993;11390650;11489943;11513152;11556966;11607830;11752630;11807247;11827988;11857637;11858820;11861603;11884229;11955593;11955595;11955599;12213321;12473184;12483297;12485116;12588680;12660731;12893276;12938237;12947224;14510693;14514672;14719373;14970179;15034010;15040585;15084594;15122200;15125833;15136729;15145317;15155468;15187158;15304001;15358536;15371334;15489910;15489916;15534202;15541655;15541657;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16056267;16091383;16129954;16339513;16356853;16356855;16364187;16380601;16461343;16551255;16612002;16737824;16754721;16893496;16904340;16928187;16978534;17045824;17047224;17057721;17072321;17135271;17237375;17337780;17363905;17468049;17496917;17548359;17652306;17728323;18031695;18037897;18055229;18173375;18209062;18234675;18593354;18759926;19149696;19359216;19592130;20346773;20452950;20730098;21154117;21241660;21543337;21800138;21841309;21877119;22396535;22426112;23302904;23524462;23580664;23695528;23929856;24305946;24600447;2530588;25493333;25703557;25716998;26284469;26300885;28165004;28265006;29557506;29863979;30522017;31313098;32157095;6440030;7479848;7531291;7542404;7565724;8178173;8520027;8550590;8601309;8798379;8824201;8995416;9115214;9252186;9285412;9314561;9362451;9687533;9700512;9730896;9846482;9850860;9990853", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P04436", "ec_number_list": [], "go_molecular_function": "GO:0042605 peptide antigen binding;GO:0042287 MHC protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "A0A0A6YYK7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75161-1", "uniprot_id": [ { "id": "NPHP4_HUMAN", "url": "https://www.uniprot.org/uniprot/O75161", "type": "external" } ], "mass": 157598.0, "length": 1426, "protein_name": "Nephrocystin-4", "gene_name": "NPHP4", "organism": "Human", "refseq_name": "nephrocystin-4 isoform b", "refseq_ac": [ { "id": "NP_001278522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522", "type": "external" } ], "gene_names_uniprotkb": "NPHP4; KIAA0673", "gene_names_refseq": "NPHP4; POC10; SLSN4", "protein_names_uniprotkb": "Nephrocystin-4; Nephroretinin", "protein_names_refseq": "POC10 centriolar protein homolog; nephrocystin-4 isoform b; nephroretinin", "tax_id": 9606, "disease": "Senior-Loken syndrome (Disease Ontology:DOID:0050576); Meckel syndrome (Disease Ontology:DOID:0050778); ciliopathy (Disease Ontology:DOID:0060340); Senior-Loken syndrome 4 (Disease Ontology:DOID:0061278); Joubert syndrome 4 (Disease Ontology:DOID:0110999); nephronophthisis 4 (Disease Ontology:DOID:0111115); nephronophthisis (Disease Ontology:DOID:12712); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:261734); (R-HSA-2028269); (R-HSA-5620912)", "pathway_count": 3, "publication_count": 119, "publication_id_list": "11118213;11237011;11278283;12205563;12244321;15109305;15661758;15688006;15776426;16339905;16357211;16930133;17085597;17558407;17574030;17646400;17719545;17974916;18037885;18158288;18227151;18328708;18694559;18801063;19004860;19081074;19755384;19940019;20230748;20308558;20399632;20412773;20558667;20850437;20868367;21187284;21205866;21224387;21224891;21233212;21258341;21273506;21422230;21498478;21546380;21548880;21555462;21565611;21620453;21725307;21792235;21832154;22179047;22433857;22550138;22653444;22654112;22863007;23141531;23141541;23186163;23253480;23348840;23400999;23530209;23574405;23747070;23769972;23789104;24053599;24089205;24231678;24469809;24982133;25047611;25313408;25418920;25576301;26154972;26294103;26644512;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28904123;29242379;29393594;29769354;30315122;30524438;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;33298915;33592498;33691108;33912179;34171305;34211107;34561969;34591160;35051231;35494241;36010968;37831349;39894887;8702870;9545236", "class_list": "", "function": "A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella., [RefSeq, PubMed]; Association of Nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study., [RefSeq, PubMed]; Encodes a novel protein, nephroretinin, that is conserved in evolution--for example, in the nematode Caenorhabditis elegans. GeneRIF: Recessive mutations in the NPHP4 gene, encoding the protein nephroretinin, in humans cause nephronophthisis type 4 and Senior-Loken syndrome.There is evolutionary conservation of the NPHP4 gene, with an ortholog in C. elegans., [RefSeq, PubMed]; Interacts with NPHP1 protein, suggesting that these two proteins participate in a common signaling pathway; identification of five different mutations in unrelated individuals with nephronophthisis Erratum:[Nat Genet 2002 Nov;32(3):459], [RefSeq, PubMed]; Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module (PubMed:19755384, PubMed:21565611). Does not seem to be strictly required for ciliogenesis (PubMed:21565611). Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In cooperation with INVS may down-regulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subcellular location of disheveled proteins. Stabilizes protein levels of JADE1 and promotes its translocation to the nucleus leading to cooperative inhibition of canonical Wnt signaling (PubMed:21498478, PubMed:22654112). Acts as a negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ (PubMed:21555462)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8IWC0", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005911 cell-cell junction;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0007165 signal transduction;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0030036 actin cytoskeleton organization;GO:0098609 cell-cell adhesion;GO:1904491 protein localization to ciliary transition zone", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "O75161-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRW4-1", "uniprot_id": [ { "id": "DUS22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRW4", "type": "external" } ], "mass": 20910.0, "length": 184, "protein_name": "Dual specificity protein phosphatase 22", "gene_name": "DUSP22", "organism": "Human", "refseq_name": "dual specificity protein phosphatase 22 isoform a", "refseq_ac": [ { "id": "NP_001273484", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273484", "type": "external" } ], "gene_names_uniprotkb": "DUSP22; JSP1; LMWDSP2; MKPX", "gene_names_refseq": "DUSP22; JKAP; JSP-1; JSP1; LMW-DSP2; LMWDSP2; MKP-x; MKPX; VHX", "protein_names_uniprotkb": "Dual specificity protein phosphatase 22; 3.1.3.16; 3.1.3.48; JKAP; JNK pathway associated phosphatase; JNK-stimulatory phosphatase-1; JSP-1; LMW-DSP2; Low molecular weight dual specificity phosphatase 2; MAP kinase phosphatase x; MKP-x; Mitogen-activated protein kinase phosphatase x", "protein_names_refseq": "JNK pathway associated phosphatase; JNK-stimulating phosphatase 1; JNK-stimulatory phosphatase-1; MAP kinase phosphatase x; dual specificity protein phosphatase 22 isoform a; dual specificity protein phosphatase 22; epididymis secretory sperm binding protein; homolog of mouse dual specificity phosphatase LMW-DSP2; low molecular weight dual specificity phosphatase 2; mitogen-activated protein kinase phosphatase x", "tax_id": 9606, "disease": "", "pathway": " (hsa:56940)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11237011;11717427;17068812;20553486;23186163;24714562;24714587;25418920;25664796;26154972;26929215;26992070;27846572;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29632046;31217245;31844290;32157095;32265295;32350084;32357974;32502341;32938616;32983136;33053837;33298915;33691108;33717175;33912179;33936100;34087483;35051231;36284347;38225265;38495810;38797677;38851418;38971328", "class_list": "", "function": "DUSP22 Ameliorates Endothelial-to-Mesenchymal Transition in HUVECs through Smad2/3 and MAPK Signaling Pathways. Publication Status: Online-Only, [RefSeq, PubMed]; DUSP22-rearranged primary cutaneous CD30-positive T-cell lymphoproliferative disorders and adult T-cell leukemia/lymphoma frequently share the LEF1+/TIA1- immunophenotype., [RefSeq, PubMed]; Dual specificity phosphatase; can dephosphorylate both phosphotyrosine and phosphoserine or phosphothreonine residues (PubMed:24714587, PubMed:38225265). Activates the JNK signaling pathway (PubMed:11717427). Inhibits T-cell receptor signaling and T-cell mediated immune responses, acting, at least in part, by inducing degradation of E3 ubiquitin ligase UBR2 (PubMed:24714587, PubMed:38225265). Dephosphorylates and thereby induces 'Lys-48'-linked ubiquitination of UBR2, leading to proteasomal degradation of UBR2 (PubMed:38225265). Dephosphorylates and thereby inactivates tyrosine kinase LCK (PubMed:24714587). Inhibits UBR2-mediated 'Lys-63'-linked ubiquitination of LCK (PubMed:38225265). May play a role in B-cell receptor (BCR) signaling and B-cell function (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Exosomal miR-1228-5p down-regulates DUSP22 to promotes cell proliferation and migration in small cell lung cancer., [RefSeq, PubMed]; JNK Pathway-Associated Phosphatase Deficiency Facilitates Atherosclerotic Progression by Inducing T-Helper 1 and 17 Polarization and Inflammation in an ERK- and NF-kappaB Pathway-Dependent Manner., [RefSeq, PubMed]; The phosphatase DUSP22 inhibits UBR2-mediated K63-ubiquitination and activation of Lck downstream of TCR signalling. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DK56;Q59GW2;Q5VWR2;Q96AR1", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0008138 protein tyrosine/serine/threonine phosphatase activity;GO:0030292 protein tyrosine kinase inhibitor activity;GO:0004726 non-membrane spanning protein tyrosine phosphatase activity;GO:1990782 protein tyrosine kinase binding", "go_cellular_component": "GO:0061851 leading edge of lamellipodium;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031941 filamentous actin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0035556 intracellular signal transduction;GO:0046330 positive regulation of JNK cascade;GO:0030336 negative regulation of cell migration;GO:0007179 transforming growth factor beta receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9NRW4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8Q3-1", "uniprot_id": [ { "id": "ENDOV_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8Q3", "type": "external" } ], "mass": 30792.0, "length": 282, "protein_name": "Endonuclease V", "gene_name": "ENDOV", "organism": "Human", "refseq_name": "endonuclease V isoform 2", "refseq_ac": [ { "id": "NP_001158109", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158109", "type": "external" } ], "gene_names_uniprotkb": "ENDOV", "gene_names_refseq": "ENDOV", "protein_names_uniprotkb": "Endonuclease V; 3.1.26.-; Inosine-specific endoribonuclease; hEndoV", "protein_names_refseq": "endonuclease V isoform 2; hEndoV; inosine-specific endoribonuclease", "tax_id": 9606, "disease": "", "pathway": " (hsa:284131)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;20819778;22664237;23139746;23912683;23912718;25195743;25418920;25824682;26154972;26811146;26929215;27573237;27800608;28063628;29393594;29632046;30429286;30833945;31703097;31844290;32157095;32265295;32387766;34171305;35051231;36284347;38951658;39894887", "class_list": "", "function": "Base preference for inosine 3'-riboendonuclease activity of human endonuclease V: implications for cleavage of poly-A tails containing inosine. Publication Status: Online-Only, [RefSeq, PubMed]; ENDOV is localized in the cytoplasm and nucleoli of human cells., [RefSeq, PubMed]; Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine (PubMed:23912683, PubMed:23912718, PubMed:25195743, PubMed:27573237, PubMed:31703097). Active against both single-stranded and double-stranded RNAs (PubMed:25195743, PubMed:31703097). Has strong preference for single-stranded RNAs (ssRNAs) toward double-stranded RNAs (dsRNAs) (PubMed:23912718). Cleaves mRNAs and tRNAs containing inosine (PubMed:23912683, PubMed:31703097). Also able to cleave structure-specific dsRNA substrates containing the specific sites 5'-IIUI-3' and 5'-UIUU-3' (PubMed:23912718, PubMed:27573237). Inosine is present in a number of RNAs following editing; the function of inosine-specific endoribonuclease is still unclear: it could either play a regulatory role in edited RNAs, or be involved in antiviral response by removing the hyperedited long viral dsRNA genome that has undergone A-to-I editing (Probable). Binds branched DNA structures (PubMed:23139746)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; HEndoV is redistributed to stress granules as a strategy to create a local environment low in ATP to permit hEndoV activity., [RefSeq, PubMed]; Human EndoV appears inactive on DNA, but has been shown to incise various RNA substrates containing inosine. [review] Review article, [RefSeq, PubMed]; Inosine-specific ribonuclease activity of natural variants of human endonuclease V, [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; This previously unknown RNA incision activity may suggest a role for endonuclease V in normal RNA metabolism., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "I3L3S4;Q6P2G2;Q86X99;Q8NAK0", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003677 DNA binding;GO:0003727 single-stranded RNA binding;GO:0016888 DNA endonuclease activity, producing 5'-phosphomonoesters;GO:0016891 RNA endonuclease activity producing 5'-phosphomonoesters, hydrolytic mechanism", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q8N8Q3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43268-1", "uniprot_id": [ { "id": "ETV4_HUMAN", "url": "https://www.uniprot.org/uniprot/P43268", "type": "external" } ], "mass": 53938.0, "length": 484, "protein_name": "ETS translocation variant 4", "gene_name": "ETV4", "organism": "Human", "refseq_name": "ETS translocation variant 4 isoform 1", "refseq_ac": [ { "id": "NP_001073143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073143", "type": "external" } ], "gene_names_uniprotkb": "ETV4; E1AF; PEA3", "gene_names_refseq": "E1A-F; E1AF; ETV4; PEA3; PEAS3", "protein_names_uniprotkb": "ETS translocation variant 4; Adenovirus E1A enhancer-binding protein; E1A-F; Polyomavirus enhancer activator 3 homolog; Protein PEA3", "protein_names_refseq": "ETS translocation variant 4 isoform 1; EWS protein/E1A enhancer binding protein chimera; adenovirus E1A enhancer-binding protein; ets variant gene 4 (E1A enhancer-binding protein, E1AF); polyomavirus enhancer activator 3 homolog", "tax_id": 9606, "disease": "Stevens-Johnson syndrome (Disease Ontology:DOID:0050426); colitis (Disease Ontology:DOID:0060180); Cytomegalovirus retinitis (Disease Ontology:DOID:0080160); COVID-19 (Disease Ontology:DOID:0080600); ankylosing spondylitis 1 (Disease Ontology:DOID:0080603); erythema nodosum (Disease Ontology:DOID:0080750); occupational asthma (Disease Ontology:DOID:0080820); birdshot chorioretinopathy (Disease Ontology:DOID:0111079); psoriasis 1 (Disease Ontology:DOID:0111286); sensorineural hearing loss (Disease Ontology:DOID:10003); spondyloarthropathy (Disease Ontology:DOID:1123); trachoma (Disease Ontology:DOID:11265); sarcoidosis (Disease Ontology:DOID:11335); retinal vasculitis (Disease Ontology:DOID:11563); otosclerosis (Disease Ontology:DOID:12185); Graves' disease (Disease Ontology:DOID:12361); retinopathy of prematurity (Disease Ontology:DOID:13025); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); anterior uveitis (Disease Ontology:DOID:1407); Takayasu's arteritis (Disease Ontology:DOID:2508); synovitis (Disease Ontology:DOID:2703); dermatitis (Disease Ontology:DOID:2723); asthma (Disease Ontology:DOID:2841); severe acute respiratory syndrome (Disease Ontology:DOID:2945); bipolar disorder (Disease Ontology:DOID:3312); cerebral infarction (Disease Ontology:DOID:3526); acute retinal necrosis syndrome (Disease Ontology:DOID:3611); thrombophlebitis (Disease Ontology:DOID:3875); tuberculosis (Disease Ontology:DOID:399); cervical cancer (Disease Ontology:DOID:4362); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); uveal melanoma (Disease Ontology:DOID:6039); reactive arthritis (Disease Ontology:DOID:6196); ankylosing spondylitis (Disease Ontology:DOID:7147); diabetic retinopathy (Disease Ontology:DOID:8947); allergic asthma (Disease Ontology:DOID:9415); Meniere's disease (Disease Ontology:DOID:9849); alopecia (Disease Ontology:DOID:987); mitral valve prolapse (Disease Ontology:DOID:988); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2118); (R-HSA-5687128)", "pathway_count": 2, "publication_count": 115, "publication_id_list": "10470034;10564827;10975528;11237011;11584266;11804587;12546821;12808096;12915405;15226418;15538386;15577943;16360641;16371649;16912160;16971392;16973613;17161475;17254968;17395884;17728103;17947239;18031682;18162290;18235225;18248330;18593949;18644862;18669648;18720373;19166925;19307308;19473979;19513348;19593530;20068231;20236090;20536836;20543837;20734105;20849292;21177870;21317288;21329875;21329882;21372320;22267219;22279049;22505454;22508986;22800433;23069990;23186163;23481700;23878308;24309468;24585635;24715725;25339975;25418920;25576301;25645385;25755297;26154972;26375851;27600516;27846572;27920218;28218747;28228285;28373072;28904123;29242379;29393594;29437277;29508533;29557506;29786170;30315122;30429286;30484775;31154438;31217245;31530632;31552090;31844290;31848261;31937595;32157095;32161166;32488085;32502341;32897882;32938616;33141586;33298915;33912179;33968037;34211107;34509645;35318648;35580925;37549030;37934799;38702503;38781935;38849954;7559638;7774926;7799959;8107774;8441666;9535855;9628874;9747882", "class_list": "", "function": "(Microbial infection) Binds to the enhancer of the adenovirus E1A gene and acts as a transcriptional activator; the core-binding sequence is 5'-[AC]GGA[AT]GT-3'., [UniProtKB, PubMed]; An oncogenic enhancer promotes melanoma progression via regulating ETV4 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Differential expression of PEA3 in odontogenic cysts and tumors., [RefSeq, PubMed]; ETV4 is a mechanical transducer linking cell crowding dynamics to lineage specification., [RefSeq, PubMed]; ETV4-Dependent Transcriptional Plasticity Maintains MYC Expression and Results in IMiD Resistance in Multiple Myeloma., [RefSeq, PubMed]; Transcription Factor ETV4 Activates AURKA to Promote PD-L1 Expression and Mediate Immune Escape in Lung Adenocarcinoma., [RefSeq, PubMed]; Transcriptional activator (PubMed:19307308, PubMed:31552090). Regulates the positioning of motor neurons within the lateral medial column of the spinal cord and controls the terminal arborization of specific motor neuron axons within their target muscles (By similarity). Required for the expression of CDH8 and SEMA3E in ETV4-expressing motor neurons and for the exclusion of CDH7 expression from these neurons (By similarity). May play a role in keratinocyte differentiation (PubMed:31552090)., [UniProtKB, PubMed, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 41, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K314;B7Z5J3;B7Z9J6;Q96AW9", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "P43268-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZN4-1", "uniprot_id": [ { "id": "EHD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZN4", "type": "external" } ], "mass": 61161.0, "length": 543, "protein_name": "EH domain-containing protein 2", "gene_name": "EHD2", "organism": "Human", "refseq_name": "EH domain-containing protein 2", "refseq_ac": [ { "id": "NP_055416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055416", "type": "external" } ], "gene_names_uniprotkb": "EHD2; PAST2", "gene_names_refseq": "EHD2; PAST2", "protein_names_uniprotkb": "EH domain-containing protein 2; PAST homolog 2", "protein_names_refseq": "EH domain-containing protein 2; PAST homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:30846); (R-HSA-983231)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10673336;11042108;11062261;11237011;11242053;11744692;11751636;11895428;11950885;12032298;12134158;12427746;15020713;15242332;15247287;15302935;15345747;15710388;16054028;16112985;1630448;17027967;17074750;17081983;17196961;17233914;18318008;18452278;18502764;18669648;19293402;19415658;19651622;20068231;20166139;20530532;20627800;218813;22323287;23186163;24029068;24275569;25576301;25588833;25645385;26375851;26845023;26992070;27397612;27543614;27600516;27846572;27862975;27920218;28832583;28834231;29393594;29493099;29508533;29557506;29786170;29789417;30429286;30484775;30779550;30833945;31154438;31217245;31222486;31844290;31848261;32157095;32161166;32170013;32387766;32488085;32897882;32938616;32945345;32983136;33141586;33356637;33392160;33537174;33592498;33968037;33981976;34019948;34087483;3409321;34171305;34185709;34509645;35051231;35177645;35318648;35412955;35580925;36010968;36215666;36241641;36284347;37938771;38665916;8662638;8816476;9065479;9230307;9326583;9331217;9422515;9927674", "class_list": "", "function": "ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (By similarity). Plays a role in membrane trafficking between the plasma membrane and endosomes (PubMed:17233914). Important for the internalization of GLUT4. Required for fusion of myoblasts to skeletal muscle myotubes. Required for normal translocation of FER1L5 to the plasma membrane (By similarity). Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by constraining caveolae at the cell membrane (PubMed:25588833)., [UniProtKB, PubMed, UniProtKB, PubMed]; Circular RNA Eps15-homology domain-containing protein 2 induce resistance of renal cell carcinoma to sunitinib via microRNA-4731-5p/ABCF2 axis., [RefSeq, PubMed]; EHD2 Overexpression Suppresses the Proliferation, Migration, and Invasion in Human Colon Cancer., [RefSeq, PubMed]; EHD2-mediated restriction of caveolar dynamics regulates cellular fatty acid uptake., [RefSeq, PubMed]; Hypoxia-induced macropinocytosis represents a metabolic route for liver cancer. Publication Status: Online-Only, [RefSeq, PubMed]; TUSC8 inhibits the development of osteosarcoma by sponging miR1973p and targeting EHD2. Erratum:[Int J Mol Med. 2021 Apr;47(4):58. doi: 10.3892/ijmm.2021.4891. PMID: 33655323], [RefSeq, PubMed]; This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDH9;B4DNU6;Q96CB6", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0016787 hydrolase activity;GO:0019904 protein domain specific binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0072659 protein localization to plasma membrane;GO:0060271 cilium assembly;GO:2001137 positive regulation of endocytic recycling;GO:1901741 positive regulation of myoblast fusion", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q9NZN4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01920-1", "uniprot_id": [ { "id": "DQB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P01920", "type": "external" } ], "mass": 29991.0, "length": 261, "protein_name": "HLA class II histocompatibility antigen, DQ beta 1 chain", "gene_name": "HLA-DQB1", "organism": "Human", "refseq_name": "HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor", "refseq_ac": [ { "id": "NP_001230891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230891", "type": "external" } ], "gene_names_uniprotkb": "HLA-DQB1; HLA-DQB", "gene_names_refseq": "CELIAC1; HLA-DQB1; HLA-DQB; IDDM1", "protein_names_uniprotkb": "HLA class II histocompatibility antigen, DQ beta 1 chain; MHC class II antigen DQB1", "protein_names_refseq": "HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor; HLA class II histocompatibility antigen, DQ beta 1 chain; MHC class II DQ beta chain; MHC class II HLA-DQ beta glycoprotein; MHC class II antigen DQB1; MHC class II antigen HLA-DQ-beta-1", "tax_id": 9606, "disease": "autoimmune pancreatitis (Disease Ontology:DOID:0040091); chikungunya (Disease Ontology:DOID:0050012); autoimmune polyendocrine syndrome type 2 (Disease Ontology:DOID:0050168); erythema multiforme (Disease Ontology:DOID:0050185); Stevens-Johnson syndrome (Disease Ontology:DOID:0050426); marginal zone lymphoma (Disease Ontology:DOID:0050748); primary progressive multiple sclerosis (Disease Ontology:DOID:0050784); rheumatic heart disease (Disease Ontology:DOID:0050827); cervical dystonia (Disease Ontology:DOID:0050840); stroke (Disease Ontology:DOID:0051061); immunoglobulin alpha deficiency (Disease Ontology:DOID:0060025); paroxysmal nocturnal hemoglobinuria (Disease Ontology:DOID:0060284); latex allergy (Disease Ontology:DOID:0060532); primary sclerosing cholangitis (Disease Ontology:DOID:0060643); pemphigus vulgaris (Disease Ontology:DOID:0060851); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); dilated cardiomyopathy 1H (Disease Ontology:DOID:0110429); osteomyelitis (Disease Ontology:DOID:1019); pneumoconiosis (Disease Ontology:DOID:10316); silicosis (Disease Ontology:DOID:10325); bacterial infectious disease (Disease Ontology:DOID:104); pre-eclampsia (Disease Ontology:DOID:10591); celiac disease (Disease Ontology:DOID:10608); thrombotic thrombocytopenic purpura (Disease Ontology:DOID:10772); sickle cell anemia (Disease Ontology:DOID:10923); common wart (Disease Ontology:DOID:11165); sarcoidosis (Disease Ontology:DOID:11335); rhinoscleroma (Disease Ontology:DOID:11336); pneumocystosis (Disease Ontology:DOID:11339); cicatricial pemphigoid (Disease Ontology:DOID:11656); degenerative myopia (Disease Ontology:DOID:11829); Creutzfeldt-Jakob disease (Disease Ontology:DOID:11949); allergic disease (Disease Ontology:DOID:1205); optic neuritis (Disease Ontology:DOID:1210); alveolar echinococcosis (Disease Ontology:DOID:12148); common variable immunodeficiency (Disease Ontology:DOID:12177); beta thalassemia (Disease Ontology:DOID:12241); Vogt-Koyanagi-Harada disease (Disease Ontology:DOID:12297); vitiligo (Disease Ontology:DOID:12306); Graves' disease (Disease Ontology:DOID:12361); aplastic anemia (Disease Ontology:DOID:12449); vulva cancer (Disease Ontology:DOID:1245); choreatic disease (Disease Ontology:DOID:12859); Sjogren's syndrome (Disease Ontology:DOID:12894); dilated cardiomyopathy (Disease Ontology:DOID:12930); agranulocytosis (Disease Ontology:DOID:12987); uveitis (Disease Ontology:DOID:13141); allergic bronchopulmonary aspergillosis (Disease Ontology:DOID:13166); Behcet's disease (Disease Ontology:DOID:13241); typhoid fever (Disease Ontology:DOID:13258); pure red-cell aplasia (Disease Ontology:DOID:1340); Addison's disease (Disease Ontology:DOID:13774); autoimmune polyendocrine syndrome (Disease Ontology:DOID:14040); Plasmodium falciparum malaria (Disease Ontology:DOID:14067); hypothyroidism (Disease Ontology:DOID:1459); cystic echinococcosis (Disease Ontology:DOID:1495); rheumatic fever (Disease Ontology:DOID:1586); glaucoma (Disease Ontology:DOID:1686); hepatitis C (Disease Ontology:DOID:1883); hepatitis B (Disease Ontology:DOID:2043); autoimmune hepatitis (Disease Ontology:DOID:2048); dental caries (Disease Ontology:DOID:216); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); IgA glomerulonephritis (Disease Ontology:DOID:2986); antiphospholipid syndrome (Disease Ontology:DOID:2988); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); tuberculosis (Disease Ontology:DOID:399); multidrug-resistant tuberculosis (Disease Ontology:DOID:401); autoimmune disease (Disease Ontology:DOID:417); cervical cancer (Disease Ontology:DOID:4362); myasthenia gravis (Disease Ontology:DOID:437); rhinitis (Disease Ontology:DOID:4483); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); myositis (Disease Ontology:DOID:633); acute disseminated encephalomyelitis (Disease Ontology:DOID:639); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); hepatocellular carcinoma (Disease Ontology:DOID:684); ankylosing spondylitis (Disease Ontology:DOID:7147); rheumatoid arthritis (Disease Ontology:DOID:7148); autoimmune thyroiditis (Disease Ontology:DOID:7188); stomach disease (Disease Ontology:DOID:76); hyperthyroidism (Disease Ontology:DOID:7998); myocarditis (Disease Ontology:DOID:820); arthritis (Disease Ontology:DOID:848); chronic myeloid leukemia (Disease Ontology:DOID:8552); ulcerative colitis (Disease Ontology:DOID:8577); mycosis fungoides (Disease Ontology:DOID:8691); Crohn's disease (Disease Ontology:DOID:8778); neuromyelitis optica (Disease Ontology:DOID:8869); psoriasis (Disease Ontology:DOID:8893); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); atrophic gastritis (Disease Ontology:DOID:8929); diabetic retinopathy (Disease Ontology:DOID:8947); systemic lupus erythematosus (Disease Ontology:DOID:9074); acute myeloid leukemia (Disease Ontology:DOID:9119); achalasia (Disease Ontology:DOID:9164); pemphigus (Disease Ontology:DOID:9182); colorectal cancer (Disease Ontology:DOID:9256); iridocyclitis (Disease Ontology:DOID:9383); type 1 diabetes mellitus (Disease Ontology:DOID:9744); alopecia areata (Disease Ontology:DOID:986); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:3119); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-2132295); (R-HSA-389948); (R-HSA-877300)", "pathway_count": 8, "publication_count": 287, "publication_id_list": "10036229;10064083;10067896;10072072;10323344;10480952;10540230;10593899;10631941;10631952;10639150;10671560;10698680;10716940;10747096;10748235;10790433;10809954;10811803;10986460;11048639;11098940;11237011;11358993;11376336;11390650;11529500;11607830;11684289;11752630;11782280;11790530;11813165;11827988;11853874;11884229;11972023;12040185;12078484;12198549;12438563;12446674;12473184;12485116;12660731;12742663;12748383;12893276;12915721;12938237;12947224;1396683;1440562;14510693;14514672;14586410;14722222;14731593;14769912;15020763;15084594;1508672;15122200;15125833;15143187;15145317;15322115;15358536;15361133;15371334;15388922;15489910;15489916;15530433;15541657;15749704;15853909;15911768;16056267;16075062;16140993;16181339;16237089;16242130;16356853;16356855;16364187;16441489;16461343;16467876;16612002;16618111;16824007;16978534;17047224;17072321;17125875;17135271;17142755;17212715;17241953;17283181;17363905;17468049;17496917;17548359;17559588;17629515;17652306;17728323;17868257;17999653;18046453;18173375;18292509;18331527;18362138;18565458;18588576;18591661;18759926;18991276;19092054;19254265;19392794;19493242;19533806;1956401;19564404;20049711;2010218;20130243;20304997;20346773;20363976;2050393;21116285;21154117;2121367;21441454;21543337;2190094;2212675;22426112;23061660;2308943;23302904;23580664;2391366;24190977;24366607;24417533;24715725;2494138;2530588;25502872;26154972;26811146;26992070;2777341;27846572;28165004;28265006;2886427;2888727;28904123;2925231;29493099;29557506;29863979;2998758;3020127;30315122;3036828;30522017;31313098;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;3259543;32938616;32983136;33043033;33141586;33239784;33298915;33592498;33633747;33912179;33936100;33968037;34078123;34357683;34433824;34932366;35051231;35154160;35561310;35580925;3584986;36284347;37719057;37884160;37938771;38579189;38799118;39041300;6206493;6316358;6415003;6576979;6952552;6954511;7479848;7481823;7508347;7510216;7514165;7530745;7565724;7592972;7615558;7617032;7650016;7657660;7667286;7673114;7690989;7796299;7928445;8046351;8119729;8134367;8145819;8148318;8156998;8176225;8313912;8397411;8415765;8483949;8520027;8530158;8550590;8550631;8598037;8601309;8631301;8642258;8687433;8798379;8824201;8849454;8896171;8896183;8909537;8929711;8939989;8947036;8988541;8988543;9075930;9111318;9115214;9143706;9174147;9202021;9252186;9271631;9311912;9312039;9362451;9458130;9497313;9539769;9545226;9606180;9687533;9802612;9846482;9850860;9990853", "class_list": "", "function": "Association between Human Leukocyte Antigen (HLA) DQB1*06 and HLA DQB1*03 and adverse outcomes in a group of critically ill patients with COVID-19 in Tunisia: a cross-sectional study. Publication Status: Online-Only, [RefSeq, PubMed]; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading., [UniProtKB]; Genome-Wide Association Study Identifies IFIH1 and HLA-DQB1*05:02 Loci Associated With Anti-NMDAR Encephalitis., [RefSeq, PubMed]; HLA-C*07:01 and HLA-DQB1*02:01 protect against white matter hyperintensities and deterioration of cognitive function: A population-based cohort study., [RefSeq, PubMed]; HLA-DQA1*01:03 and DQB1*06:01 are risk factors for severe COVID-19 pneumonia., [RefSeq, PubMed]; HLA-DQB1 Allele Polymorphism Associated with Oral Submucous Fibrosis in Hunan, China. Publication Status: Online-Only, [RefSeq, PubMed]; HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 105, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A1KR27;A2RPH3;A4Q9R4;A4USG2;A4USG5;A6N8I7;A9YQA0;B0S7Y7;B1A0K6;B1GXI3;B3VLT3;B5BLN7;B7VU69;C0MQ34;C0MQ35;C8ZL52;C8ZLJ8;C8ZLJ9;C9DRQ3;O19708;O19713;O19724;O62861;O78046;O78221;O78223;O98034;O98201;P01917;P01918;P01919;P03992;P05537;P79482;P79526;P79544;P79551;Q08GC8;Q09035;Q0E4V9;Q1M312;Q29731;Q29877;Q29884;Q29915;Q29966;Q2P9N3;Q2QK85;Q30061;Q30075;Q30076;Q30080;Q30081;Q30082;Q30083;Q30084;Q30089;Q30095;Q31633;Q38I47;Q45UE3;Q4QZB5;Q53I44;Q564J6;Q5G841;Q5ISH1;Q5ISH3;Q5W1E1;Q5Y7G8;Q643R4;Q6B9X1;Q70VH8;Q7YP69;Q8HWH0;Q8MH58;Q8SNB4;Q8SND1;Q8SP70;Q8WMA3;Q9BD17;Q9MYH2;Q9TPA9;Q9XRY6;Q9XRY7;Q9XRZ2", "ec_number_list": [], "go_molecular_function": "GO:0023026 MHC class II protein complex binding;GO:0042605 peptide antigen binding;GO:0032395 MHC class II receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0032588 trans-Golgi network membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006955 immune response;GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II;GO:0050852 T cell receptor signaling pathway;GO:0002503 peptide antigen assembly with MHC class II protein complex;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 29.0, "record_id": "P01920-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13133-1", "uniprot_id": [ { "id": "NR1H3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13133", "type": "external" } ], "mass": 50396.0, "length": 447, "protein_name": "Oxysterols receptor LXR-alpha", "gene_name": "NR1H3", "organism": "Human", "refseq_name": "oxysterols receptor LXR-alpha isoform 2", "refseq_ac": [ { "id": "NP_001123573", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123573", "type": "external" } ], "gene_names_uniprotkb": "NR1H3; LXRA", "gene_names_refseq": "LXR-a; LXRA; NR1H3; RLD-1", "protein_names_uniprotkb": "Oxysterols receptor LXR-alpha; Liver X receptor alpha; Nuclear receptor subfamily 1 group H member 3", "protein_names_refseq": "oxysterols receptor LXR-alpha isoform 2; oxysterols receptor LXR-alpha", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); pre-eclampsia (Disease Ontology:DOID:10591); carotid stenosis (Disease Ontology:DOID:13001); atherosclerosis (Disease Ontology:DOID:1936); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); ovarian hyperstimulation syndrome (Disease Ontology:DOID:5425); myocardial infarction (Disease Ontology:DOID:5844); cerebrovascular disease (Disease Ontology:DOID:6713); abdominal aortic aneurysm (Disease Ontology:DOID:7693); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:10062); (R-HSA-1989781); (R-HSA-8866427); (R-HSA-9029558); (R-HSA-9029569); (R-HSA-9031525); (R-HSA-9031528); (R-HSA-9623433); (R-HSA-9632974)", "pathway_count": 9, "publication_count": 107, "publication_id_list": "10777541;10858438;11149950;11237011;11267664;11287605;11414710;11500512;11604492;11790787;11875109;12032151;12118000;12150943;12177166;12454263;12505311;12518032;12582161;12612088;14572640;14703507;14764426;15067378;15130092;15147902;15635043;16380219;16871576;16904112;16972786;17186944;17452316;17684114;18039658;18250151;18540824;18719978;18782758;18848529;19088433;19481530;19520913;19710929;19933273;19934321;20110263;20427281;20466882;20466885;20494359;20566875;20855588;21030586;21187453;21273557;21310851;21507939;21734303;22510808;22541735;22673513;22936343;23496987;23519696;23790976;24196956;25661920;26984517;27920218;28082258;28832583;28834231;28842423;28869506;29242379;29393594;29435130;29557506;29577901;29772548;29786170;31154438;31530632;31848261;32897882;32938616;32983136;33392160;33968037;34932366;35051231;35580925;36592658;36854764;36930354;37478846;38016947;38740636;40596516;7685352;7744246;7892212;8402897;8647822;9012850;9748239", "class_list": "", "function": "Contributions of NR1H3 genetic polymorphisms to susceptibility and effects of narrowband UVB phototherapy to nonsegmental vitiligo. Publication Status: Online-Only, [RefSeq, PubMed]; Decreased mRNA expression of NR1H3 and ABCA1 in pulmonary tuberculosis patients from population of Punjab, India. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of LXR controls the polarization of human inflammatory macrophages through upregulation of MAFB. Publication Status: Online-Only, [RefSeq, PubMed]; Liver X receptor alpha ensures blood-brain barrier function by suppressing SNAI2. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:19481530, PubMed:25661920, PubMed:37478846). Interaction with retinoic acid receptor (RXR) shifts RXR from its role as a silent DNA-binding partner to an active ligand-binding subunit in mediating retinoid responses through target genes defined by LXRES (PubMed:37478846). LXRES are DR4-type response elements characterized by direct repeats of two similar hexanuclotide half-sites spaced by four nucleotides (By similarity). Plays an important role in the regulation of cholesterol homeostasis, regulating cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8 (PubMed:19481530). Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Induces LPCAT3-dependent phospholipid remodeling in endoplasmic reticulum (ER) membranes of hepatocytes, driving SREBF1 processing and lipogenesis (By similarity). Via LPCAT3, triggers the incorporation of arachidonate into phosphatidylcholines of ER membranes, increasing membrane dynamics and enabling triacylglycerols transfer to nascent very low-density lipoprotein (VLDL) particles. Via LPCAT3 also counteracts lipid-induced ER stress response and inflammation, likely by modulating SRC kinase membrane compartmentalization and limiting the synthesis of lipid inflammatory mediators (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Sterol-regulated transmembrane protein TMEM86a couples LXR signaling to regulation of lysoplasmalogens in macrophages., [RefSeq, PubMed]; The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K3J9;D3DQR1;Q8IW13;Q96H87", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0015485 cholesterol binding;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0043235 receptor complex;GO:0000785 chromatin", "go_biological_process": "GO:0048550 negative regulation of pinocytosis;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0010875 positive regulation of cholesterol efflux;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q13133-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y262-1", "uniprot_id": [ { "id": "EIF3L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y262", "type": "external" } ], "mass": 66727.0, "length": 564, "protein_name": "Eukaryotic translation initiation factor 3 subunit L", "gene_name": "EIF3L", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 3 subunit L isoform 2", "refseq_ac": [ { "id": "NP_001229852", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229852", "type": "external" } ], "gene_names_uniprotkb": "EIF3L; EIF3EIP; EIF3S6IP; HSPC021; HSPC025; MSTP005", "gene_names_refseq": "EIF3EIP; EIF3L; EIF3S11; EIF3S6IP; HSPC021; HSPC025; MSTP005", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 3 subunit L; Eukaryotic translation initiation factor 3 subunit 6-interacting protein; Eukaryotic translation initiation factor 3 subunit E-interacting protein; eIF3l", "protein_names_refseq": "eIEF associated protein HSPC021; eukaryotic translation initiation factor 3 subunit 6-interacting protein; eukaryotic translation initiation factor 3 subunit E-interacting protein; eukaryotic translation initiation factor 3 subunit L isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51386); (R-HSA-156827); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706)", "pathway_count": 7, "publication_count": 134, "publication_id_list": "10364207;10659855;1095581;11018020;1104615;11237011;11590142;12393749;12493757;12588972;12750860;14567916;14654843;15703437;16322461;16766523;17322308;17581632;18056426;18452278;18477386;1856230;18599441;19608861;22223895;23301498;23783831;24275569;24366607;24397554;24714562;24715725;25418920;25469497;25576301;25645385;25810538;25849773;25880248;25892735;26154972;26811146;26929215;26992070;27462815;27600516;27846572;27920218;28063628;28218747;28228285;28446606;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29769354;29786170;29789417;30315122;30397120;30410026;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31844290;31848261;31863585;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34405274;34509645;34725712;34932366;35051231;35083852;35138101;35154160;35318648;35561310;35580925;36010968;36215666;36284347;36580660;37938771;38665916;39395807;429297;592398;592399;641056;6853548;6901506;7000367;8943342;9045610;9732867;9857202", "class_list": "", "function": "(Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426)., [UniProtKB, PubMed]; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression., [UniProtKB, HAMAP, UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Whereas the eIF3c knockdown reduces it, downregulation of eIF3k or eIF3l increases mRNA recruitment, suggesting that the latter subunits possess a regulatory potential. Altogether this study provides new insights into the role of human eIF3 in the initial assembly steps of the translational machinery, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDG6;B4DYB2;G8JLH4;Q53HQ1;Q53HT4;Q5QTR1;Q5TI15;Q6ICD2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0045202 synapse;GO:0001650 fibrillar center", "go_biological_process": "GO:0006413 translational initiation;GO:0001732 formation of cytoplasmic translation initiation complex;GO:0075525 viral translational termination-reinitiation", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q9Y262-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96T51-1", "uniprot_id": [ { "id": "RUFY1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96T51", "type": "external" } ], "mass": 79818.0, "length": 708, "protein_name": "RUN and FYVE domain-containing protein 1", "gene_name": "RUFY1", "organism": "Human", "refseq_name": "RUN and FYVE domain-containing protein 1 isoform b", "refseq_ac": [ { "id": "NP_001035541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035541", "type": "external" } ], "gene_names_uniprotkb": "RUFY1; RABIP4; ZFYVE12", "gene_names_refseq": "RABIP4; RUFY1; ZFYVE12", "protein_names_uniprotkb": "RUN and FYVE domain-containing protein 1; FYVE-finger protein EIP1; La-binding protein 1; Rab4-interacting protein; Zinc finger FYVE domain-containing protein 12", "protein_names_refseq": "FYVE-finger protein EIP1; RUN and FYVE domain-containing protein 1 isoform b; la-binding protein 1; rab4-interacting protein; zinc finger FYVE domain-containing protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:80230); (R-HSA-1660499)", "pathway_count": 2, "publication_count": 124, "publication_id_list": "10194451;10224048;10555148;10559940;10593988;10753883;10805725;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11604140;11676921;11733541;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;14516276;14617813;14660569;15080793;15107860;15135396;15464023;15716355;15797027;15840652;16154996;16399794;16476736;16522682;16914545;16959974;16979564;17008356;17245604;17525332;17651088;18093523;18753295;19038970;19296456;19896968;20534812;21204784;22037487;22647598;23481700;23519112;23758345;24275569;24366607;25495341;25548167;25576301;25645385;26154972;26768311;26992070;27920218;28228285;28510447;28832583;28834231;28904123;29493099;29557506;30315122;30379171;30407695;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33592498;33968037;33981976;34019948;34087483;34357683;34509645;35051231;36010968;36241641;36282215;37938771;38665916;40307207;40914422;7608176;7624799;8681945;8723348;8769125;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "Activating adapter involved in cargo sorting from early/recycling endosomes. Regulates retrieval of proteins from endosomes to the trans-Golgi network through interaction with the dynein-dynactin complex (PubMed:36282215). Dual effector of RAB4B and RAB14, mediates a cooperative interaction allowing endosomal tethering and fusion (PubMed:20534812). Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking (PubMed:14617813). In oocytes, self-assembles to form a protein matrix which hold together endolysosomes, autophagosomes and proteasomes and generate non-membrane-bound compartments called endo-lysosomal vesicular assemblies (ELVAs). In immature oocytes, ELVAs sequester ubiquitinated protein aggregates and degrade them upon oocyte maturation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Data suggest that targeting the podocalyxin-like protein (PODXL)/RUN and FYVE domain containing 1 (RUFY1) complex might improve cancer therapy. Erratum:[Cancer Sci. 2019 Apr;110(4):1504. doi: 10.1111/cas.13994. PMID: 30945404], [RefSeq, PubMed]; Interaction with tyrosine kinase Etk, [RefSeq, PubMed]; RUFY1 binds Arl8b and mediates endosome-to-TGN CI-M6PR retrieval for cargo sorting to lysosomes., [RefSeq, PubMed]; These findings suggest that Rab14 and Rab4 act sequentially, together with RUFY1., [RefSeq, PubMed]; This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q59FF3;Q71S93;Q9H6I3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0017124 SH3 domain binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol;GO:0031901 early endosome membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0015031 protein transport;GO:0030100 regulation of endocytosis;GO:0006661 phosphatidylinositol biosynthetic process;GO:0034058 endosomal vesicle fusion", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q96T51-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14166-1", "uniprot_id": [ { "id": "TTL12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14166", "type": "external" } ], "mass": 74404.0, "length": 644, "protein_name": "Tubulin--tyrosine ligase-like protein 12", "gene_name": "TTLL12", "organism": "Human", "refseq_name": "tubulin--tyrosine ligase-like protein 12", "refseq_ac": [ { "id": "NP_055955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055955", "type": "external" } ], "gene_names_uniprotkb": "TTLL12; KIAA0153", "gene_names_refseq": "TTLL12; dJ526I14.2", "protein_names_uniprotkb": "Tubulin--tyrosine ligase-like protein 12; Inactive tubulin--tyrosine ligase-like protein 12", "protein_names_refseq": "inactive tubulin--tyrosine ligase-like protein 12; tubulin tyrosine ligase-like family, member 12; tubulin--tyrosine ligase-like protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:23170); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 104, "publication_id_list": "11237011;1520276;15890843;16901895;17081983;17244817;17244818;17360631;17499049;17924679;18331838;18452278;18477386;18669648;18707149;19413330;19524510;19531357;19651622;20068231;20162578;20166139;20230923;20519502;21074048;23251473;23301498;23358242;24715725;25103237;25468068;25576301;25645385;25957412;26375851;26811146;26992070;27600516;27862975;27920218;28011935;28218747;28228285;28467828;28510447;28514659;28832583;28834231;28904123;29146868;29242379;29314611;29493099;29557506;29632711;29769354;29786170;30315122;30418433;30429286;30524438;30573663;30779550;31154438;31217245;31844290;31998317;32119511;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33043033;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34171305;34185709;34357683;34561969;34932366;35051231;35083852;35138101;35561310;35580925;36010968;36241641;36284347;37938771;38177908;38665916;7452228", "class_list": "", "function": "Negatively regulates post-translational modifications of tubulin, including detyrosination of the C-terminus and polyglutamylation of glutamate residues (PubMed:20162578, PubMed:23251473). Also, indirectly promotes histone H4 trimethylation at 'Lys-20' (H4K20me3) (PubMed:23251473). Probably by controlling tubulin and/or histone H4 post-translational modifications, plays a role in mitosis and in maintaining chromosome number stability (PubMed:20162578, PubMed:23251473). During RNA virus-mediated infection, acts as a negative regulator of the RIG-I pathway by preventing MAVS binding to TBK1 and IKBKE (PubMed:28011935)., [UniProtKB, PubMed, PubMed, PubMed]; Results raise the possibility that TTLL12 could contribute to tumorigenesis through effects on the cytoskeleton, tubulin modification and chromosome number stability., [RefSeq, PubMed]; Results suggest that hTTLL12 has non-catalytic functions related to tubulin and histone modification, which could be linked to its effects on mitosis and chromosome number stability, [RefSeq, PubMed]; TTLL12 is required for primary ciliary axoneme formation in polarized epithelial cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q20WK5;Q9UGU3", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0140005 histone H4K20me2 reader activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0045087 innate immune response;GO:0007346 regulation of mitotic cell cycle;GO:0060339 negative regulation of type I interferon-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "Q14166-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBQ5-1", "uniprot_id": [ { "id": "EIF3K_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBQ5", "type": "external" } ], "mass": 25060.0, "length": 218, "protein_name": "Eukaryotic translation initiation factor 3 subunit K", "gene_name": "EIF3K", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 3 subunit K isoform 1", "refseq_ac": [ { "id": "NP_037366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037366", "type": "external" } ], "gene_names_uniprotkb": "EIF3K; ARG134; EIF3S12; HSPC029; MSTP001; PTD001", "gene_names_refseq": "ARG134; EIF3-p28; EIF3K; EIF3S12; HSPC029; M9; MSTP001; PLAC-24; PLAC24; PRO1474; PTD001", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 3 subunit K; Eukaryotic translation initiation factor 3 subunit 12; Muscle-specific gene M9 protein; PLAC-24; eIF-3 p25; eIF-3 p28; eIF3k", "protein_names_refseq": "eIF-3 p28; eukaryotic translation initiation factor 3 subunit K isoform 1; eukaryotic translation initiation factor 3, subunit 12; muscle specific; muscle-specific gene M9 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:27335); (R-HSA-156827); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706)", "pathway_count": 7, "publication_count": 130, "publication_id_list": "10364207;10659855;1095581;11018020;1104615;11237011;12493757;12588972;14519125;14567916;15180986;15327989;15703437;16766523;17081983;17322308;17581632;1856230;18599441;18669648;18991276;19413330;19415658;19651622;19664995;20068231;21406692;22223895;22645359;23186163;23301498;24366607;24397554;24714562;24715725;25505266;25645385;25849773;25880248;26024233;26154972;26758079;26992070;27397612;27462815;27600516;27846572;27920218;28218747;28228285;28467828;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30524438;30779550;30833945;31217245;31530632;31844290;31848261;31863585;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34509645;34932366;35051231;35251023;35318648;35580925;36010968;36241641;36284347;37938771;38665916;40914422;429297;592398;592399;641056;6853548;6901506;7000367;8943342;9045610;9732867;9857202", "class_list": "", "function": "Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression., [UniProtKB, HAMAP, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Cyclin D3 specifically interacted with eIF3k through its C-terminal domain; eIF3k distributed both in nucleus and cytoplasm and colocalized with cyclin D3, [RefSeq, PubMed]; EIF3k has three putative protein-binding surfaces and has potential RNA binding activity, [RefSeq, PubMed]; The 700-kD eukaryotic translation initiation factor-3 (eIF3) is the largest eIF and contains at least 12 subunits, including EIF2S12. eIF3 plays an essential role in translation by binding directly to the 40S ribosomal subunit and promoting formation of the 40S preinitiation complex (Mayeur et al., 2003 [PubMed 14519125]).[supplied by OMIM, Mar 2008]., [RefSeq]; Whereas the eIF3c knockdown reduces it, downregulation of eIF3k or eIF3l increases mRNA recruitment, suggesting that the latter subunits possess a regulatory potential. Altogether this study provides new insights into the role of human eIF3 in the initial assembly steps of the translational machinery, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0I9;B7ZAM9;Q96IQ0;Q9Y6D1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0043022 ribosome binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016020 membrane;GO:0016282 eukaryotic 43S preinitiation complex;GO:0033290 eukaryotic 48S preinitiation complex", "go_biological_process": "GO:0006413 translational initiation;GO:0006446 regulation of translational initiation;GO:0001732 formation of cytoplasmic translation initiation complex", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9UBQ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96G46-1", "uniprot_id": [ { "id": "DUS3L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96G46", "type": "external" } ], "mass": 72594.0, "length": 650, "protein_name": "tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like", "gene_name": "DUS3L", "organism": "Human", "refseq_name": "tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like isoform 2", "refseq_ac": [ { "id": "NP_001155091", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155091", "type": "external" } ], "gene_names_uniprotkb": "DUS3L", "gene_names_refseq": "DUS3L; DUS3", "protein_names_uniprotkb": "tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like; 1.3.1.-; 1.3.1.89; mRNA-dihydrouridine synthase DUS3L; tRNA-dihydrouridine synthase 3-like", "protein_names_refseq": "mRNA-dihydrouridine synthase DUS3L; tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56931)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11237011;16964243;17081983;18220336;18669648;19413330;19651622;19664995;19690332;20068231;23186163;23301498;23481700;24275569;24715725;25576301;25645385;27862975;27920218;28218747;28228285;28510447;28514659;28832583;28904123;29242379;30315122;30410026;31844290;32157095;32357974;32387766;32938616;33141586;33298915;33537174;33592498;33691108;33912179;33936100;33968037;34019948;34087483;34171305;34211107;34509645;34556860;35051231;35318648;35561310;35580925;36010968", "class_list": "", "function": "Catalyzes the synthesis of dihydrouridine, a modified base, in various RNAs, such as tRNAs, mRNAs and some long non-coding RNAs (lncRNAs) (PubMed:34556860). Mainly modifies the uridine in position 47 (U47) in the D-loop of most cytoplasmic tRNAs (PubMed:34556860). Also able to mediate the formation of dihydrouridine in some mRNAs, thereby regulating their translation (PubMed:34556860)., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96HM5;Q9BSU4;Q9H877;Q9NPR1", "ec_number_list": [ { "id": "1.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.-", "type": "external" }, { "id": "1.3.1.89", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.89", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0050660 flavin adenine dinucleotide binding;GO:0017150 tRNA dihydrouridine synthase activity;GO:0106414 mRNA dihydrouridine synthase activity", "go_cellular_component": "", "go_biological_process": "GO:0006397 mRNA processing;GO:0006417 regulation of translation;GO:0002943 tRNA dihydrouridine synthesis", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q96G46-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20823-1", "uniprot_id": [ { "id": "HNF1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P20823", "type": "external" } ], "mass": 67386.0, "length": 631, "protein_name": "Hepatocyte nuclear factor 1-alpha", "gene_name": "HNF1A", "organism": "Human", "refseq_name": "hepatocyte nuclear factor 1-alpha isoform 1", "refseq_ac": [ { "id": "NP_001293108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293108", "type": "external" } ], "gene_names_uniprotkb": "HNF1A; TCF1", "gene_names_refseq": "HNF-1-alpha; HNF-1A; HNF1A; HNF1alpha; HNF1; IDDM20; LFB1; MODY3; TCF-1; TCF1", "protein_names_uniprotkb": "Hepatocyte nuclear factor 1-alpha; HNF-1-alpha; HNF-1A; LFB1; Liver-specific transcription factor LF-B1; TCF-1; Transcription factor 1", "protein_names_refseq": "albumin proximal factor; hepatic nuclear factor 1; hepatocyte nuclear factor 1-alpha isoform 1; hepatocyte nuclear factor 1-alpha; interferon production regulator factor; liver-specific transcription factor LF-B1; transcription factor 1, hepatic", "tax_id": 9606, "disease": "maturity-onset diabetes of the young (Disease Ontology:DOID:0050524); hepatocellular adenoma (Disease Ontology:DOID:0050868); type 1 diabetes mellitus 20 (Disease Ontology:DOID:0110757); maturity-onset diabetes of the young type 3 (Disease Ontology:DOID:0111102); familial hepatic adenoma (Disease Ontology:DOID:0111366); pre-eclampsia (Disease Ontology:DOID:10591); glucose intolerance (Disease Ontology:DOID:10603); gestational diabetes (Disease Ontology:DOID:11714); extrahepatic cholestasis (Disease Ontology:DOID:13619); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); renal cell carcinoma (Disease Ontology:DOID:4450); chromophobe renal cell carcinoma (Disease Ontology:DOID:4471); kidney disease (Disease Ontology:DOID:557); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); phenylketonuria (Disease Ontology:DOID:9281); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:6927); (R-HSA-210745)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10078571;10084598;10102714;10333057;10482964;10588527;10966642;11237011;11980910;12355088;12453420;14728801;16930618;16959974;1707031;17573900;20166139;24275569;24821553;28218747;28832583;29242379;29351928;30397120;30953348;38018242;38855865;38879600;38959885;39894887;41513003;7900999;8945470;9032114;9075818;9075819;9097962;9112026;9133564;9166684;9287053;9287055;9313763;9392505;9604876;9621514;9626139;9754819;9867222", "class_list": "", "function": "(Microbial infection) Plays a crucial role for hepatitis B virus gene transcription and DNA replication. Mechanistically, synergistically cooperates with NR5A2 to up-regulate the activity of one of the critical cis-elements in the hepatitis B virus genome enhancer II (ENII)., [UniProtKB, PubMed, PubMed]; Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Pan-cancer mapping of single CD8[+] T cell profiles reveals a TCF1:CXCR6 axis regulating CD28 co-stimulation and anti-tumor immunity., [RefSeq, PubMed]; The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]., [RefSeq]; Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:10966642, PubMed:12453420). Activates the transcription of CYP1A2, CYP2E1 and CYP3A11 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Tripartite motif 8 promotes the progression of hepatocellular carcinoma via mediating ubiquitination of HNF1alpha. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 0, "mined_o_glycosites": 4, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 15, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 81, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 19, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MQU7;A5Z2R8;E0YMJ5;E0YMK0;E0YMK1;E2I9R4;E2I9R5;F5H5U3;Q2M3H2;Q99861", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0046983 protein dimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0032991 protein-containing complex;GO:0005654 nucleoplasm", "go_biological_process": "GO:0035623 renal D-glucose absorption;GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0001889 liver development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "P20823-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16552-1", "uniprot_id": [ { "id": "IL17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16552", "type": "external" } ], "mass": 17504.0, "length": 155, "protein_name": "Interleukin-17A", "gene_name": "IL17A", "organism": "Human", "refseq_name": "interleukin-17A precursor", "refseq_ac": [ { "id": "NP_002181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002181", "type": "external" } ], "gene_names_uniprotkb": "IL17A; CTLA8; IL17", "gene_names_refseq": "CTLA-8; CTLA8; IL-17A; IL-17; IL17A; IL17; ILA17", "protein_names_uniprotkb": "Interleukin-17A; CTLA-8; Cytotoxic T-lymphocyte-associated antigen 8; IL-17A; IL-17", "protein_names_refseq": "cytotoxic T-lymphocyte-associated antigen 8; cytotoxic T-lymphocyte-associated protein 8; interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8); interleukin-17A precursor; interleukin-17", "tax_id": 9606, "disease": "cutaneous lupus erythematosus (Disease Ontology:DOID:0050169); colitis (Disease Ontology:DOID:0060180); ileitis (Disease Ontology:DOID:0060189); COVID-19 (Disease Ontology:DOID:0080600); childhood-onset asthma (Disease Ontology:DOID:0080815); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); leprosy (Disease Ontology:DOID:1024); pleurisy (Disease Ontology:DOID:10247); tuberculoid leprosy (Disease Ontology:DOID:1025); hypertension (Disease Ontology:DOID:10763); lepromatous leprosy (Disease Ontology:DOID:10887); lipoid nephrosis (Disease Ontology:DOID:10966); trachoma (Disease Ontology:DOID:11265); vitiligo (Disease Ontology:DOID:12306); Graves' disease (Disease Ontology:DOID:12361); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); temporal arteritis (Disease Ontology:DOID:13375); cystic fibrosis (Disease Ontology:DOID:1485); brain ischemia (Disease Ontology:DOID:2316); multiple sclerosis (Disease Ontology:DOID:2377); Mycobacterium avium complex disease (Disease Ontology:DOID:2755); asthma (Disease Ontology:DOID:2841); bronchiolitis (Disease Ontology:DOID:2942); pulmonary tuberculosis (Disease Ontology:DOID:2957); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); periodontal disease (Disease Ontology:DOID:3388); plague (Disease Ontology:DOID:3482); pulmonary fibrosis (Disease Ontology:DOID:3770); systemic scleroderma (Disease Ontology:DOID:418); macular degeneration (Disease Ontology:DOID:4448); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); acne (Disease Ontology:DOID:6543); ankylosing spondylitis (Disease Ontology:DOID:7147); rheumatoid arthritis (Disease Ontology:DOID:7148); myocarditis (Disease Ontology:DOID:820); periapical periodontitis (Disease Ontology:DOID:823); psoriasis (Disease Ontology:DOID:8893); psoriatic arthritis (Disease Ontology:DOID:9008); systemic lupus erythematosus (Disease Ontology:DOID:9074); cutaneous leishmaniasis (Disease Ontology:DOID:9111); acute myocardial infarction (Disease Ontology:DOID:9408); allergic asthma (Disease Ontology:DOID:9415)", "pathway": " (hsa:3605); (R-HSA-448424); (R-HSA-6785807); (R-HSA-9705671)", "pathway_count": 4, "publication_count": 170, "publication_id_list": "10023775;10219247;10369418;10510379;10586089;10867011;11058569;11084045;11104795;11120780;11278437;11278729;11356008;11404481;11463377;11574464;11960372;12019269;12223527;12242343;12600988;12692549;12759408;12832402;14634100;14712222;15116091;15208624;15261459;15340161;15584925;15805299;15869882;15950906;16007214;16048438;16107692;16205632;16236134;16397018;16397230;16451196;16510571;16540365;16606674;16785495;17355969;17427945;17458857;17572495;17763419;17911633;18243101;18353781;18447642;18644974;18684971;19124156;19185846;19397496;19825828;19835883;20493732;21102457;21252155;21350122;21689689;21730069;21937440;21993848;21993849;21994466;22046235;22205702;22383755;22693070;22851691;22941947;23069765;23086340;23124025;23172665;23455323;23555662;23695682;23834281;23967200;24097101;24120361;24743777;25234944;28827714;31850239;32187518;32353859;32428392;32576222;32589897;32726803;32728199;32953130;32979938;33024073;33060197;33097660;33110251;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33963333;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34597346;35102342;35643212;37051252;37217939;39302740;7499828;7510216;7512451;7529288;7795521;7796300;7898939;7907877;8085155;8602263;8621622;8663118;8668165;8676080;8777726;8797861;8816495;9013879;9651359;9723655;9736340;9822675;9874564", "class_list": "", "function": "Effect of interleukin-17A on inflammatory mediator production in interleukin-1beta-stimulated human dental pulp fibroblasts., [RefSeq, PubMed]; Effector cytokine of innate and adaptive immune system involved in antimicrobial host defense and maintenance of tissue integrity (PubMed:24120361). Signals via IL17RA-IL17RC heterodimeric receptor complex, triggering homotypic interaction of IL17RA and IL17RC chains with TRAF3IP2 adapter. This leads to downstream TRAF6-mediated activation of NF-kappa-B and MAPkinase pathways ultimately resulting in transcriptional activation of cytokines, chemokines, antimicrobial peptides and matrix metalloproteinases, with potential strong immune inflammation (PubMed:17911633, PubMed:18684971, PubMed:19825828, PubMed:21350122, PubMed:24120361, PubMed:8676080). Plays an important role in connecting T cell-mediated adaptive immunity and acute inflammatory response to destroy extracellular bacteria and fungi. As a signature effector cytokine of T-helper 17 cells (Th17), primarily induces neutrophil activation and recruitment at infection and inflammatory sites (By similarity). In airway epithelium, mediates neutrophil chemotaxis via induction of CXCL1 and CXCL5 chemokines (By similarity). In secondary lymphoid organs, contributes to germinal center formation by regulating the chemotactic response of B cells to CXCL12 and CXCL13, enhancing retention of B cells within the germinal centers, B cell somatic hypermutation rate and selection toward plasma cells (By similarity). Effector cytokine of a subset of gamma-delta T cells that functions as part of an inflammatory circuit downstream IL1B, TLR2 and IL23A-IL12B to promote neutrophil recruitment for efficient bacterial clearance (By similarity). Effector cytokine of innate immune cells including invariant natural killer cell (iNKT) and group 3 innate lymphoid cells that mediate initial neutrophilic inflammation (By similarity). Involved in the maintenance of the integrity of epithelial barriers during homeostasis and pathogen infection (PubMed:21350122). Upon acute injury, has a direct role in epithelial barrier formation by regulating OCLN localization and tight junction biogenesis (By similarity). As part of the mucosal immune response induced by commensal bacteria, enhances host's ability to resist pathogenic bacterial and fungal infections by promoting neutrophil recruitment and antimicrobial peptides release (By similarity). In synergy with IL17F, mediates the production of antimicrobial beta-defensins DEFB1, DEFB103A, and DEFB104A by mucosal epithelial cells, limiting the entry of microbes through the epithelial barriers (By similarity). Involved in antiviral host defense through various mechanisms (By similarity). Enhances immunity against West Nile virus by promoting T cell cytotoxicity (By similarity). May play a beneficial role in influenza A virus (H5N1) infection by enhancing B cell recruitment and immune response in the lung (By similarity). Contributes to influenza A virus (H1N1) clearance by driving the differentiation of B-1a B cells, providing for production of virus-specific IgM antibodies at first line of host defense (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; This gene is a member of the IL-17 receptor family which includes five members (IL-17RA-E) and the encoded protein is a proinflammatory cytokine produced by activated T cells. IL-17A-mediated downstream pathways induce the production of inflammatory molecules, chemokines, antimicrobial peptides, and remodeling proteins. The encoded protein elicits crucial impacts on host defense, cell trafficking, immune modulation, and tissue repair, with a key role in the induction of innate immune defenses. This cytokine stimulates non-hematopoietic cells and promotes chemokine production thereby attracting myeloid cells to inflammatory sites. This cytokine also regulates the activities of NF-kappaB and mitogen-activated protein kinases and can stimulate the expression of IL6 and cyclooxygenase-2 (PTGS2/COX-2), as well as enhance the production of nitric oxide (NO). IL-17A plays a pivotal role in various infectious diseases, inflammatory and autoimmune disorders, and cancer. High levels of this cytokine are associated with several chronic inflammatory diseases including rheumatoid arthritis, psoriasis and multiple sclerosis. The lung damage induced by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is to a large extent, a result of the inflammatory response promoted by cytokines such as IL17A. [provided by RefSeq, Sep 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 1, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring", "glycan_count": 1, "disease_count": 49, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5T2P0", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0032747 positive regulation of interleukin-23 production;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007219 Notch signaling pathway;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "Q16552-1", "record_type": "protein", "filter_code": "0100000.1100111.100000.000000000001000000.1100110000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00482-1", "uniprot_id": [ { "id": "NR5A2_HUMAN", "url": "https://www.uniprot.org/uniprot/O00482", "type": "external" } ], "mass": 61331.0, "length": 541, "protein_name": "Nuclear receptor subfamily 5 group A member 2", "gene_name": "NR5A2", "organism": "Human", "refseq_name": "nuclear receptor subfamily 5 group A member 2 isoform 3", "refseq_ac": [ { "id": "NP_001263393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393", "type": "external" } ], "gene_names_uniprotkb": "NR5A2; B1F; CPF; FTF", "gene_names_refseq": "B1F2; B1F; CPF; FTF; FTZ-F1beta; FTZ-F1; LRH-1; LRH1; NR5A2; hB1F-2", "protein_names_uniprotkb": "Nuclear receptor subfamily 5 group A member 2; Alpha-1-fetoprotein transcription factor; B1-binding factor; CYP7A promoter-binding factor; Hepatocytic transcription factor; LRH-1; Liver receptor homolog 1; hB1F", "protein_names_refseq": "CYP7A promoter-binding factor; b1-binding factor, hepatocyte transcription factor which activates enhancer II of hepatitis B virus; fetoprotein-alpha 1 (AFP) transcription factor; hepatocytic transcription factor hB1F-3; nuclear receptor subfamily 5 group A member 2 isoform 3", "tax_id": 9606, "disease": "colon cancer (Disease Ontology:DOID:219)", "pathway": " (hsa:2494); (R-HSA-9018519); (R-HSA-9841922)", "pathway_count": 3, "publication_count": 180, "publication_id_list": "10359768;10425206;10500157;10558993;10828826;10835357;10873660;10882139;11010967;11027271;11034064;11103799;11136970;11165043;11237011;11345900;11410592;11452016;11581164;11595170;11682626;12498683;12612073;12829629;12959972;1310260;14631847;14675539;14728801;15001666;15276198;15282324;15343269;15345050;15514030;15707893;15723037;15897460;15986123;16009131;16046058;16087863;16109788;16113099;16289203;1630819;16380219;16980581;17013392;17277772;17463000;17495528;17510434;17637753;17666587;17690249;17761950;18187655;18219272;18256232;18322535;18358809;18410128;18476782;18533032;18762174;18805503;19001364;19020303;19043829;19098913;19172745;19274700;19295514;19321454;19383337;19718048;20159957;20219941;20220130;20498280;20570965;20682797;21106759;21151129;21445275;21573489;21614002;2181374;21835891;21878914;21934649;21940756;22056668;22187462;22265404;22492511;22504882;22545144;22704330;23145106;23172872;23192763;23303788;23403292;23435229;23723241;23737522;23906331;24167369;24371278;24735615;24854081;24885040;24973012;24998469;25296600;25365482;25433557;25542856;25633194;25663755;25674852;25728767;26056233;26153859;26204489;26416531;26462610;26479350;26553876;27062924;27397612;27694446;27862975;27886276;27984042;28363985;28539435;28642062;2919170;29557506;3045126;31419141;32433991;32631515;3281094;32938616;33141586;33329381;33335203;3498214;35503419;36010968;36303447;36765131;3677090;37285077;38243114;38409506;7559524;7935485;7937828;8195246;8197458;8419924;8521497;8521498;8876171;9065481;9171241;9201922;9338790;9388265;9611253;9671459;9731700;9744270;9786908;9858833", "class_list": "", "function": "(Microbial infection) Plays a crucial role for hepatitis B virus gene transcription and DNA replication. Mechanistically, synergistically cooperates with HNF1A to up-regulate the activity of one of the critical cis-elements in the hepatitis B virus genome enhancer II (ENII)., [UniProtKB, PubMed, PubMed]; Aberrant phosphorylation of human LRH1 at serine 510 is predictable of hepatocellular carcinoma recurrence., [RefSeq, PubMed]; In constrast to isoform 1 and isoform 2, does not induce cholesterol 7-alpha-hydroxylase gene (CYP7A) promoter activity., [UniProtKB, PubMed]; Lineage regulators TFAP2C and NR5A2 function as bipotency activators in totipotent embryos., [RefSeq, PubMed]; MicroRNA-433-3p enhances chemosensitivity of glioma to cisplatin by downregulating NR5A2., [RefSeq, PubMed]; Nuclear receptor 5A2 regulation of Agrp underlies olanzapine-induced hyperphagia. Review article, [RefSeq, PubMed]; Nucleosome-bound NR5A2 structure reveals pioneer factor mechanism by DNA minor groove anchor competition., [RefSeq, PubMed]; Orphan nuclear receptor that binds DNA as a monomer to the 5'-TCAAGGCCA-3' sequence and controls expression of target genes: regulates key biological processes, such as early embryonic development, cholesterol and bile acid synthesis pathways, as well as liver and pancreas morphogenesis (PubMed:16289203, PubMed:18410128, PubMed:21614002, PubMed:32433991, PubMed:38409506, PubMed:9786908). Ligand-binding causes conformational change which causes recruitment of coactivators, promoting target gene activation (PubMed:21614002). The specific ligand is unknown, but specific phospholipids, such as phosphatidylethanolamine, phosphatidylserine, dilauroyl phosphatidylcholine and diundecanoyl phosphatidylcholine can act as ligand in vitro (PubMed:15707893, PubMed:15723037, PubMed:15897460, PubMed:21614002, PubMed:22504882, PubMed:23737522, PubMed:26416531, PubMed:26553876). Acts as a pioneer transcription factor, which unwraps target DNA from histones and elicits local opening of closed chromatin (PubMed:38409506). Plays a central role during preimplantation stages of embryonic development (By similarity). Plays a minor role in zygotic genome activation (ZGA) by regulating a small set of two-cell stage genes (By similarity). Plays a major role in morula development (2-16 cells embryos) by acting as a master regulator at the 8-cell stage, controlling expression of lineage-specifying transcription factors and genes involved in mitosis, telomere maintenance and DNA repair (By similarity). Zygotic NR5A2 binds to both closed and open chromatin with other transcription factors, often at SINE B1/Alu repeats DNA elements, promoting chromatin accessibility at nearby regulatory regions (By similarity). Also involved in the epiblast stage of development and embryonic stem cell pluripotency, by promoting expression of POU5F1/OCT4 (PubMed:27984042). Regulates other processes later in development, such as formation of connective tissue in lower jaw and middle ear, neural stem cell differentiation, ovarian follicle development and Sertoli cell differentiation (By similarity). Involved in exocrine pancreas development and acinar cell differentiation (By similarity). Acts as an essential transcriptional regulator of lipid metabolism (PubMed:20159957). Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver (PubMed:10359768). Also acts as a negative regulator of inflammation in different organs, such as, liver and pancreas (PubMed:20159957). Protects against intestinal inflammation via its ability to regulate glucocorticoid production (By similarity). Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957). Acts as a regulator of immunity by promoting lymphocyte T-cell development, proliferation and effector functions (By similarity). Also involved in resolution of endoplasmic reticulum stress in the liver (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4E2P3;O95642;Q147U3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0005543 phospholipid binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0097720 calcineurin-mediated signaling;GO:0009792 embryo development ending in birth or egg hatching;GO:0001545 primary ovarian follicle growth;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "O00482-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR21-4", "uniprot_id": [ { "id": "PAR11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR21", "type": "external" } ], "mass": 39597.0, "length": 338, "protein_name": "Protein mono-ADP-ribosyltransferase PARP11", "gene_name": "PARP11", "organism": "Human", "refseq_name": "protein mono-ADP-ribosyltransferase PARP11 isoform b", "refseq_ac": [ { "id": "NP_001273450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273450", "type": "external" } ], "gene_names_uniprotkb": "PARP11; C12orf6", "gene_names_refseq": "ARTD11; C12orf6; MIB006; PARP11", "protein_names_uniprotkb": "Protein mono-ADP-ribosyltransferase PARP11; 2.4.2.-; ADP-ribosyltransferase diphtheria toxin-like 11; ARTD11; PARP-11; Poly [ADP-ribose] polymerase 11", "protein_names_refseq": "ADP-ribosyltransferase diphtheria toxin-like 11; poly [ADP-ribose] polymerase 11; protein mono-ADP-ribosyltransferase PARP11 isoform b; protein mono-ADP-ribosyltransferase PARP11", "tax_id": 9606, "disease": "", "pathway": " (hsa:57097)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;20106667;25043379;25673562;26992070;27600516;28218747;28228285;28832583;28834231;28904123;29242379;29485866;29493099;29557506;30315122;30988430;31154438;31844290;31848261;32488085;33912179;34185709;34187568;34561969;34932366;35051231;35561310;35580925;36284347", "class_list": "", "function": "Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins (PubMed:25043379, PubMed:25673562). Plays a role in nuclear envelope stability and nuclear remodeling during spermiogenesis (By similarity). Inhibits the type I interferon activated signaling pathway (PubMed:30988430). Mechanistically, mono-ADP-ribosylates beta-TrCP/BTRC to promote IFNAR1 ubiquitination and protect BTRC from ubiquitin-proteasome degradation. Additionally, acts as an antiviral factor by cooperating with PARP12 to suppress Zika virus replication, independent of IFNAR1 regulation or intrinsic PARP enzymatic activity (PubMed:34187568). Instead, facilitates the degradation of viral NS1 and NS3 proteins, potentially disrupting viral replication (PubMed:34187568)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DRQ0;F8WBZ7;Q68DS1;Q8N5Y9", "ec_number_list": [ { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "type": "external" } ], "go_molecular_function": "GO:1990404 NAD+-protein mono-ADP-ribosyltransferase activity;GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity;GO:0140803 NAD+-protein-cysteine ADP-ribosyltransferase activity;GO:0140806 NAD+-protein-aspartate ADP-ribosyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0070213 protein auto-ADP-ribosylation;GO:0007283 spermatogenesis;GO:0015031 protein transport;GO:0030154 cell differentiation;GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9NR21-4", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNF0-1", "uniprot_id": [ { "id": "PACN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNF0", "type": "external" } ], "mass": 55739.0, "length": 486, "protein_name": "Protein kinase C and casein kinase substrate in neurons protein 2", "gene_name": "PACSIN2", "organism": "Human", "refseq_name": "protein kinase C and casein kinase substrate in neurons protein 2 isoform A", "refseq_ac": [ { "id": "NP_001171899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171899", "type": "external" } ], "gene_names_uniprotkb": "PACSIN2", "gene_names_refseq": "PACSIN2; SDPII", "protein_names_uniprotkb": "Protein kinase C and casein kinase substrate in neurons protein 2; SdpII; Syndapin-2; Syndapin-II", "protein_names_refseq": "cytoplasmic phosphoprotein PACSIN2; protein kinase C and casein kinase substrate in neurons protein 2 isoform A; syndapin-2; syndapin-II; syndapin2", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:11252); (R-HSA-8856828)", "pathway_count": 2, "publication_count": 223, "publication_id_list": "10431838;10535736;10542231;10559856;10559861;10559924;10625686;10766823;11082044;11179684;11230166;11231140;11237011;11239472;11470803;11516654;11517213;11532990;11577110;11877457;11877461;11889126;12057195;12213833;12447393;12847086;12952949;14555962;14581451;14617351;14622578;14622579;15252009;15260957;15318165;15339664;15502812;15502813;15649145;15703209;15802264;15895077;15916959;16103228;16215232;16326391;16410077;16516836;16707488;16798879;16880396;16903783;17018281;17035995;17081983;17158794;17494869;17512409;17540576;17609109;17681954;17762867;17765681;17978091;18093523;18388313;18452278;18477386;1847920;18669648;18790740;18981233;19092055;19287005;19296720;19458185;19536138;19549836;19575674;19603039;19696796;19713939;19776351;19809571;20033059;20059951;20188097;20211604;20231386;20428113;20448150;20826345;20946875;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21693584;21779028;21841790;21883765;21927000;21927001;21962517;22099461;22233676;22323287;22484487;22505844;22573331;22815487;22863004;23129763;23186163;23236520;23297414;23481700;23536704;23596323;23823722;23861397;23891661;24130457;24186068;24581490;24715725;24789820;24966051;25107275;25303366;25341920;25418920;25576301;25645385;25880248;26042225;26154972;26403691;26768311;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632711;29786170;29891700;30315122;30410026;30429286;30484775;31242077;31801866;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33214551;33298915;33537174;33592498;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34211107;34357683;34433824;34932366;35008409;35051231;35251023;35352878;35580925;36010968;36241641;36284347;36596605;37132654;37938771;38253038;38665916;40596516;40914422;6146630;7877694;8524399;8552632;9092476;9100026;9427626;9428629;9635431;9736607", "class_list": "", "function": "(Microbial infection) Specifically enhances the efficiency of HIV-1 virion spread by cell-to-cell transfer (PubMed:29891700). Also promotes the protrusion engulfment during cell-to-cell spread of bacterial pathogens like Listeria monocytogenes (PubMed:31242077). Involved in lipid droplet formation, which is important for HCV virion assembly (PubMed:31801866)., [UniProtKB, PubMed, PubMed, PubMed]; PACSIN2 as a modulator of autophagy and mercaptopurine cytotoxicity: mechanisms in lymphoid and intestinal cells. Publication Status: Online-Only, [RefSeq, PubMed]; Pacsin 2-dependent N-cadherin internalization regulates the migration behaviour of malignant cancer cells., [RefSeq, PubMed]; Reciprocal interactions among Cobll1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia., [RefSeq, PubMed]; Regulates the morphogenesis and endocytosis of caveolae (By similarity). Lipid-binding protein that is able to promote the tubulation of the phosphatidic acid-containing membranes it preferentially binds. Plays a role in intracellular vesicle-mediated transport. Involved in the endocytosis of cell-surface receptors like the EGF receptor, contributing to its internalization in the absence of EGF stimulus (PubMed:21693584, PubMed:23129763, PubMed:23236520, PubMed:23596323). Essential for endothelial organization in sprouting angiogenesis, modulates CDH5-based junctions. Facilitates endothelial front-rear polarity during migration by recruiting EHD4 and MICALL1 to asymmetric adherens junctions between leader and follower cells (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O95921;Q96HV9;Q9H0D3;Q9NPN1;Q9Y4V2", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0045296 cadherin binding;GO:0008092 cytoskeletal protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0072584 caveolin-mediated endocytosis;GO:0030100 regulation of endocytosis;GO:0030036 actin cytoskeleton organization;GO:0007010 cytoskeleton organization;GO:0036010 protein localization to endosome", "synthesized_glycan_count": 0, "hit_score": 22.6, "record_id": "Q9UNF0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14526-1", "uniprot_id": [ { "id": "FCHO1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14526", "type": "external" } ], "mass": 96861.0, "length": 889, "protein_name": "F-BAR domain only protein 1", "gene_name": "FCHO1", "organism": "Human", "refseq_name": "F-BAR domain only protein 1 isoform a", "refseq_ac": [ { "id": "NP_001154829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154829", "type": "external" } ], "gene_names_uniprotkb": "FCHO1; KIAA0290", "gene_names_refseq": "FCHO1; IMD76", "protein_names_uniprotkb": "F-BAR domain only protein 1", "protein_names_refseq": "F-BAR domain only protein 1 isoform a; F-BAR domain only protein 1; FCH domain only 1; FCH domain only protein 1", "tax_id": 9606, "disease": "early-onset Parkinson's disease (Disease Ontology:DOID:0060894); primary immunodeficiency disease (Disease Ontology:DOID:612); immunodeficiency 76 (MONDO:MONDO:0030898)", "pathway": " (hsa:23149); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 263, "publication_id_list": "10097102;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11071885;11076969;11082044;11231140;11237011;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12847086;12944396;12952949;12958364;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15252009;15260957;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15802264;15895077;15916959;16103228;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;17018281;17035995;17158794;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17617719;17681954;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18199683;18388313;1847920;18775314;18790740;18819912;18981233;19092055;19140243;19287005;19296720;19458185;19536138;19575674;19603039;19664994;1968060;19690332;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20211604;20231386;20351096;20428113;20448150;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22722860;22815487;22863004;22942912;23186163;23297414;23481700;23536704;23823722;23861397;23891661;24130457;24186068;24384571;24581490;24680432;24715725;24746795;24789820;24966051;25107275;25303365;25303366;25341920;25418920;25576301;25892735;26042225;26154972;26375851;26403691;26829388;26992070;27893789;28228285;28514659;28649982;28832583;28834231;28855257;28904123;2890644;29242379;29314611;29393594;29508533;29557506;29632046;29632711;29769354;29786170;30379171;30429286;30524438;30822429;31844290;32098969;32157095;32312977;32350084;32357974;32387766;32502341;32897882;32983136;33298915;33717175;33820972;33912179;33936100;33950325;33968037;34087483;3417785;34405274;34413495;34509645;34932366;35051231;35561310;35580925;36241641;36284347;6146630;7569928;7822302;7877694;8524399;8552632;8553074;8837779;9092476;9100026;9169477;9179496;9303539;9427626;9428629;9635431;9723620;9736607;9812899", "class_list": "", "function": "A critical role of FCHO1 in the clathrin-mediated endocytosis and T cells development and function. Erratum:[Nat Commun. 2020 Apr 20;11(1):1963. doi: 10.1038/s41467-020-15946-x. PMID: 32312977] Publication Status: Online-Only, [RefSeq, PubMed]; FCH domain only 1 (FCHo1), a potential new biomarker for lung cancer., [RefSeq, PubMed]; Functions in an early step of clathrin-mediated endocytosis (PubMed:30822429). Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. May regulate Bmp signaling by regulating clathrin-mediated endocytosis of Bmp receptors. Involved in the regulation of T-cell poliferation and activation (PubMed:30822429, PubMed:32098969). Affects TCR clustering upon receptor triggering and modulates its internalization, playing a role in TCR-dependent T-cell activation (PubMed:32098969)., [UniProtKB, PubMed, PubMed, PubMed]; Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1 Deficiency., [RefSeq, PubMed]; Involved in clathrin-coated vesicle formation., [RefSeq, PubMed]; Liquid-like protein interactions catalyse assembly of endocytic vesicles., [RefSeq, PubMed]; Show that the mu-homology domain of FCHO1/2 represents an endocytic interaction hub Publication Status: Online-Only, [RefSeq, PubMed]; Study reports FCHo1/2 were required for plasma membrane clathrin-coated vesicle (CCV) budding & marked sites of CCV formation Erratum:[Science. 2025 Nov 13;390(6774):eaed1654. doi: 10.1126/science.aed1654. PMID: 41232007], [RefSeq, PubMed]; The central linker of FCHO proteins acts as an allosteric regulator of the prime endocytic adaptor, AP-2. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NHE6;A8K5U5;B4E120;Q05C93;Q8IW22", "ec_number_list": [], "go_molecular_function": "GO:0035612 AP-2 adaptor complex binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit", "go_biological_process": "GO:0050852 T cell receptor signaling pathway;GO:0048268 clathrin coat assembly;GO:0072583 clathrin-dependent endocytosis;GO:0050870 positive regulation of T cell activation;GO:0006897 endocytosis", "synthesized_glycan_count": 0, "hit_score": 26.6, "record_id": "O14526-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26715-1", "uniprot_id": [ { "id": "NKG2A_HUMAN", "url": "https://www.uniprot.org/uniprot/P26715", "type": "external" } ], "mass": 26314.0, "length": 233, "protein_name": "NKG2-A/NKG2-B type II integral membrane protein", "gene_name": "KLRC1", "organism": "Human", "refseq_name": "NKG2-A/NKG2-B type II integral membrane protein isoform NKG2-A", "refseq_ac": [ { "id": "NP_002250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002250", "type": "external" } ], "gene_names_uniprotkb": "KLRC1; NKG2A", "gene_names_refseq": "CD159A; KLRC1; NKG2A; NKG2", "protein_names_uniprotkb": "NKG2-A/NKG2-B type II integral membrane protein; CD159 antigen-like family member A; NK cell receptor A; NKG2-A/B-activating NK receptor", "protein_names_refseq": "C-lectin type II protein; CD159 antigen-like family member A; NK cell receptor A; NKG2-1/B activating NK receptor; NKG2-A/B type II integral membrane protein; NKG2-A/B-activating NK receptor; NKG2-A/NKG2-B type II integral membrane protein isoform NKG2-A; NKG2-A/NKG2-B type II integral membrane protein; killer cell lectin-like receptor subfamily C, member 1; natural killer cell lectin; natural killer group protein 2", "tax_id": 9606, "disease": "hepatitis C (Disease Ontology:DOID:1883)", "pathway": " (hsa:3821); (R-HSA-198933)", "pathway_count": 2, "publication_count": 108, "publication_id_list": "10499918;10669413;10746781;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12165520;12213321;12387742;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15751767;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18064301;18083576;18209062;18234675;18332182;18448674;18593354;19149696;19359216;19592130;2007850;20730098;20952657;21241660;21800138;21841309;21877119;22396535;23335510;23695528;23929856;24305946;25703557;25716998;26284469;26300885;30503213;30860984;32203188;32859121;32983136;33592498;35289036;37264229;38064568;38922288;39097734;39288262;39401997;40914422;7531291;7542404;8178173;8753859;8995416;9285412;9314561;9430220;9485206;9486650;9598306;9700512;9730896", "class_list": "glycogene", "function": "(Microbial infection) May recognize HLA-E in complex with HIV-1 gag/Capsid protein p24-derived peptide (AISPRTLNA) on infected cells and may inhibit NK cell cytotoxicity, a mechanism that allows HIV-1 to escape immune recognition., [UniProtKB, PubMed]; (Microbial infection) Upon SARS-CoV-2 infection, may contribute to functional exhaustion of cytotoxic NK cells and CD8-positive T cells (PubMed:32203188, PubMed:32859121). On NK cells, may recognize HLA-E in complex with SARS-CoV-2 S/Spike protein S1-derived peptide (LQPRTFLL) expressed on the surface of lung epithelial cells, inducing NK cell exhaustion and dampening antiviral immune surveillance (PubMed:32859121)., [UniProtKB, PubMed, PubMed]; (Microbial infection) Viruses like human cytomegalovirus have evolved an escape mechanism whereby virus-induced down-regulation of host MHC class I molecules is coupled to the binding of viral peptides to HLA-E, restoring HLA-E expression and inducing HLA-E-dependent NK cell immune tolerance to infected cells. Recognizes HLA-E in complex with human cytomegalovirus UL40-derived peptide (VMAPRTLIL) and inhibits NK cell cytotoxicity., [UniProtKB, PubMed, PubMed]; Antigen-specific memory NK cell responses against HIV and influenza use the NKG2/HLA-E axis., [RefSeq, PubMed]; Cancer Cell Small Molecule Secretome Induces the Immune Checkpoint NKG2A and Dysfunction of Human CD8+ T Cells., [RefSeq, PubMed]; DNA Methylation of KLRC1 and KLRC3 in Autoimmune Thyroiditis: Perspective of Different Water Iodine Exposure., [RefSeq, PubMed]; Immune inhibitory receptor involved in self-nonself discrimination. In complex with KLRD1 on cytotoxic and regulatory lymphocyte subsets, recognizes non-classical major histocompatibility (MHC) class Ib molecule HLA-E loaded with self-peptides derived from the signal sequence of classical MHC class Ia molecules. Enables cytotoxic cells to monitor the expression of MHC class I molecules in healthy cells and to tolerate self (PubMed:18083576, PubMed:37264229, PubMed:9430220, PubMed:9486650). Upon HLA-E-peptide binding, transmits intracellular signals through two immunoreceptor tyrosine-based inhibition motifs (ITIMs) by recruiting INPP5D/SHP-1 and INPPL1/SHP-2 tyrosine phosphatases to ITIMs, and ultimately opposing signals transmitted by activating receptors through dephosphorylation of proximal signaling molecules (PubMed:12165520, PubMed:9485206). Key inhibitory receptor on natural killer (NK) cells that regulates their activation and effector functions (PubMed:30860984, PubMed:9430220, PubMed:9485206, PubMed:9486650). Dominantly counteracts T cell receptor signaling on a subset of memory/effector CD8-positive T cells as part of an antigen-driven response to avoid autoimmunity (PubMed:12387742). On intraepithelial CD8-positive gamma-delta regulatory T cells triggers TGFB1 secretion, which in turn limits the cytotoxic programming of intraepithelial CD8-positive alpha-beta T cells, distinguishing harmless from pathogenic antigens (PubMed:18064301). In HLA-E-rich tumor microenvironment, acts as an immune inhibitory checkpoint and may contribute to progressive loss of effector functions of NK cells and tumor-specific T cells, a state known as cell exhaustion (PubMed:30503213, PubMed:30860984)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mutual exclusivity and co-occurrence patterns of immune checkpoints indicate NKG2A relates to anti-PD-1 resistance in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; NKG2C and NKG2A coexpression defines a highly functional antiviral NK population in spontaneous HIV control. Publication Status: Online-Only, [RefSeq, PubMed]; Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 306, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0023024 MHC class I protein complex binding;GO:0004888 transmembrane signaling receptor activity;GO:0030246 carbohydrate binding;GO:0062082 HLA-E specific inhibitory MHC class Ib receptor activity;GO:0062080 inhibitory MHC class Ib receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex;GO:0016020 membrane", "go_biological_process": "GO:0002769 natural killer cell inhibitory signaling pathway;GO:0002228 natural killer cell mediated immunity;GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response;GO:0045953 negative regulation of natural killer cell mediated cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "P26715-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQC3-1", "uniprot_id": [ { "id": "DPH2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQC3", "type": "external" } ], "mass": 52083.0, "length": 489, "protein_name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2", "gene_name": "DPH2", "organism": "Human", "refseq_name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform b", "refseq_ac": [ { "id": "NP_001034678", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034678", "type": "external" } ], "gene_names_uniprotkb": "DPH2; DPH2L2", "gene_names_refseq": "DEDSSH2; DPH2L2; DPH2", "protein_names_uniprotkb": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2; Diphthamide biosynthesis protein 2; Diphtheria toxin resistance protein 2; S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2", "protein_names_refseq": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform b; 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2; DPH2 homolog; DPH2-like 2; S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2; diphthamide biosynthesis protein 2 homolog-like 2; diphthamide biosynthesis-like protein 2; diphtheria toxin resistance protein 2; diptheria toxin resistance protein required for diphthamide biosynthesis-like 2", "tax_id": 9606, "disease": "diphthamide deficiency syndrome (Disease Ontology:DOID:0070476); diphthamide deficiency syndrome 2 (Disease Ontology:DOID:0070478)", "pathway": " (hsa:1802); (R-HSA-5358493)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "11237011;1508200;15485916;18627462;18669648;19651622;19690332;20068231;20559380;21406692;23169644;23186163;23468660;23486472;23645155;23971743;24422557;24715725;24739148;25352115;26811146;27846572;27862975;28657654;28904123;29237092;30059200;30620550;31373491;31492838;31844290;31998317;32157095;32357974;32387766;32574038;32576952;32938616;32938750;33298915;3346227;33592498;33936100;33968037;34087483;34171305;34211107;34302311;35051231;35132862;35254053;35494241;36215666;37074911;37340703;37541260;37675463;39531497;40307207;40596516;9782084", "class_list": "", "function": "DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models., [RefSeq, PubMed]; Required for the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2 (PubMed:32576952). DPH1 and DPH2 transfer a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methionine (SAM) to a histidine residue, the reaction is assisted by a reduction system comprising DPH3 and a NADH-dependent reductase (By similarity). Facilitates the reduction of the catalytic iron-sulfur cluster found in the DPH1 subunit (By similarity)., [UniProtKB, UniProtKB, PubMed]; Spin-Regulated Electron Transfer and Exchange-Enhanced Reactivity in Fe4 S4 -Mediated Redox Reaction of the Dph2 Enzyme During the Biosynthesis of Diphthamide., [RefSeq, PubMed]; This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8MVC9;B2RDE3;B4DNI8;O60623", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0090560 2-(3-amino-3-carboxypropyl)histidine synthase activity;GO:0051536 iron-sulfur cluster binding", "go_cellular_component": "GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0120513 2-(3-amino-3-carboxypropyl)histidine synthase complex", "go_biological_process": "GO:0017183 protein histidyl modification to diphthamide", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9BQC3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P2Q9-1", "uniprot_id": [ { "id": "PRP8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P2Q9", "type": "external" } ], "mass": 273600.0, "length": 2335, "protein_name": "Pre-mRNA-processing-splicing factor 8", "gene_name": "PRPF8", "organism": "Human", "refseq_name": "pre-mRNA-processing-splicing factor 8", "refseq_ac": [ { "id": "NP_006436", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006436", "type": "external" } ], "gene_names_uniprotkb": "PRPF8; PRPC8", "gene_names_refseq": "HPRP8; PRP8; PRPC8; PRPF8; RP13; SNRNP220", "protein_names_uniprotkb": "Pre-mRNA-processing-splicing factor 8; 220 kDa U5 snRNP-specific protein; PRP8 homolog; Splicing factor Prp8; p220", "protein_names_refseq": "220 kDa U5 snRNP-specific protein; PRP8 homolog; PRP8 pre-mRNA processing factor 8 homolog; U5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8p; apoptosis-regulated protein 1; apoptosis-regulated protein 2; p220; pre-mRNA-processing-splicing factor 8; precursor mRNA processing protein; splicing factor Prp8", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); retinitis pigmentosa 13 (Disease Ontology:DOID:0110403); prostate cancer (Disease Ontology:DOID:10283); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:10594); (R-HSA-72163); (R-HSA-72165); (R-HSA-9918481)", "pathway_count": 4, "publication_count": 274, "publication_id_list": "10024169;10207048;10411133;10809668;10882114;10983979;11006293;11014198;11101529;11233976;11237011;11333026;11468273;11607023;11747608;11910553;11971955;11991638;12176931;12411573;12414731;12477934;12714658;14519844;14625303;14654843;14713954;14762106;15084397;15840809;16314458;16723661;16809785;17095540;17317632;17332742;17525332;17606899;17940139;18160138;18220336;18322460;18452278;18593880;18669648;18836455;18843295;18991276;19052544;19103666;19165350;19536130;19608861;19651622;19664994;20068231;20423332;20595234;20980672;2139226;21536652;2176635;21911577;22110043;22121020;22223895;22365833;22424782;22645359;22869377;22959432;22961380;23186163;23222130;23236153;23345524;23481700;23783831;24129315;24196718;24304693;24366607;24397554;24448447;24714562;24715725;24737827;2479028;24914973;2524422;2527369;2532307;25418920;25469497;25555158;25576301;2558966;25645385;25802875;25810538;25880248;25892735;26092250;26154972;26375851;26385511;26420826;26527271;26728094;26768311;26811146;26853435;26912367;26929215;26969736;26992070;27108190;27377154;27397612;27452731;27459055;27510544;27543614;27600516;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28218747;28228285;28446606;28502770;28510447;28514659;28561026;28781166;28832583;28834231;28855257;28860189;28904123;29242379;29301961;29331515;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29789417;29902443;30192525;30315122;30315277;30410026;30429286;30444036;30484775;30524438;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31020640;31092671;31154438;31217245;31222486;31409651;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33123756;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33465208;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34229054;34301950;34357683;34405274;34509645;34561969;34725712;34822310;34932366;35051231;35083852;35154160;35167828;35188580;35215846;35241646;35251023;35318648;35385551;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37217939;3757028;37938771;38605034;38665916;40596516;40914422;41018975;8566756;8608445;8608946;8702566;8835860;9016565;9242493;9303319;9512519;9524131;9539711;9671485;9701291;9731529;9774689", "class_list": "", "function": "PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5 -splice-site selection causing tissue-specific defects. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome (PubMed:10411133, PubMed:11971955, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:29301961, PubMed:29360106, PubMed:29361316, PubMed:30315277, PubMed:30705154, PubMed:30728453). Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome. Functions as a scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5' and the 3' splice site., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O14547;O75965", "ec_number_list": [], "go_molecular_function": "GO:0097157 pre-mRNA intronic binding;GO:0030620 U2 snRNA binding;GO:0003723 RNA binding;GO:0070530 K63-linked polyubiquitin modification-dependent protein binding;GO:0030619 U1 snRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0016607 nuclear speck;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0006397 mRNA processing;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0071222 cellular response to lipopolysaccharide;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 27.9, "record_id": "Q6P2Q9-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCM8-1", "uniprot_id": [ { "id": "DYHC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCM8", "type": "external" } ], "mass": 492622.0, "length": 4307, "protein_name": "Cytoplasmic dynein 2 heavy chain 1", "gene_name": "DYNC2H1", "organism": "Human", "refseq_name": "cytoplasmic dynein 2 heavy chain 1 isoform 2", "refseq_ac": [ { "id": "NP_001073932", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073932", "type": "external" } ], "gene_names_uniprotkb": "DYNC2H1; DHC1B; DHC2; DNCH2; DYH1B; KIAA1997", "gene_names_refseq": "ATD3; DHC1b; DHC2; DNCH2; DYH1B; DYNC2H1; SRPS2B; SRTD3; hdhc11", "protein_names_uniprotkb": "Cytoplasmic dynein 2 heavy chain 1; Cytoplasmic dynein 2 heavy chain; Dynein cytoplasmic heavy chain 2; Dynein heavy chain 11; Dynein heavy chain isotype 1B; hDHC11", "protein_names_refseq": "cytoplasmic dynein 2 heavy chain 1 isoform 2; cytoplasmic dynein 2 heavy chain 1; dynein cytoplasmic heavy chain 2; dynein heavy chain 11; dynein heavy chain, isotype 1B; dynein, cytoplasmic, heavy polypeptide 2", "tax_id": 9606, "disease": "nonsyndromic deafness (Disease Ontology:DOID:0050563); asphyxiating thoracic dystrophy (Disease Ontology:DOID:0050592); asphyxiating thoracic dystrophy 3 (Disease Ontology:DOID:0110087); VACTERL association (Disease Ontology:DOID:14679)", "pathway": " (hsa:79659); (R-HSA-5610787); (R-HSA-5620924)", "pathway_count": 3, "publication_count": 183, "publication_id_list": "10.1101/2023.09.13.557529;10069812;10966113;11237011;11285270;11375483;12056414;12192414;12435627;12795688;14603322;15087129;15231740;15269286;15489852;15523559;15930098;15955805;16049494;16061793;16136078;16229832;16254602;16311594;16339192;16396903;16435301;16440056;16492809;16493421;16707575;16775004;16782012;17027958;17200122;17312020;17314406;17442700;17553904;17574030;17641202;17762891;17960137;18180368;18304522;18327258;18364699;18369462;18455992;18832070;18852297;19000668;19112494;19147001;19196978;19223390;19253336;19286674;19361615;19365551;19384852;19442771;19450523;19549984;19592253;19666503;19720863;19767740;19776033;19805633;19877275;19906846;19948480;19996169;20067783;20154143;20207148;20395968;20412786;20435895;20460306;20526327;20526328;20530210;20844016;20889716;20956384;2105456;21209331;21211617;21427764;21695114;21801010;21936775;22007132;22118932;22231273;22391300;22499340;22922713;22992454;23209152;23332756;23456818;23719536;23945166;23990561;24140113;24296415;24302888;24339784;24596149;24616010;24715725;24845016;24863049;24917297;24925320;24952464;25205765;25349261;25443296;25576301;25645385;26154972;26992070;27543614;27600516;27846572;27862975;28834231;29242379;29393594;29557506;30192525;30429286;31154438;31222486;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33392160;33592498;33691108;33694158;33755199;33846808;33912179;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36599940;37217939;37938771;8186465;8516294;8522608;8666668;9114011;9373155;9585416;9585417;9852153", "class_list": "", "function": "Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy., [RefSeq, PubMed]; Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome., [RefSeq, PubMed]; DYNC2H1 variants cause Leber congenital amaurosis without syndromic features., [RefSeq, PubMed]; May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity)., [UniProtKB]; Radiological and histopathological features of short ribpolydactyly syndrome type III and identification of two novel DYNC2H1 variants., [RefSeq, PubMed]; This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 95, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O00432;Q16693;Q3C1U8;Q4AC93;Q6ZMX7;Q6ZUM6;Q7Z363;Q8N977;Q92815;Q9HAE4", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0008569 minus-end-directed microtubule motor activity;GO:0051959 dynein light intermediate chain binding;GO:0003774 cytoskeletal motor activity;GO:0045505 dynein intermediate chain binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005874 microtubule;GO:0005886 plasma membrane;GO:0005929 cilium;GO:0045177 apical part of cell", "go_biological_process": "GO:0060294 cilium movement involved in cell motility;GO:0060271 cilium assembly;GO:0007030 Golgi organization;GO:0035721 intraciliary retrograde transport;GO:0007018 microtubule-based movement", "synthesized_glycan_count": 0, "hit_score": 19.2, "record_id": "Q8NCM8-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVM6-1", "uniprot_id": [ { "id": "DJC17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVM6", "type": "external" } ], "mass": 34687.0, "length": 304, "protein_name": "DnaJ homolog subfamily C member 17", "gene_name": "DNAJC17", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 17", "refseq_ac": [ { "id": "NP_060633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060633", "type": "external" } ], "gene_names_uniprotkb": "DNAJC17", "gene_names_refseq": "DNAJC17", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 17", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 17; dnaJ homolog subfamily C member 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:55192)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;17081983;18212344;18452278;18669648;19367720;19651622;19690332;19913121;20068231;20628086;23186163;24129315;26355662;28904123;29159607;29493099;30429286;30484775;31844290;32357974;32387766;32897882;32938616;33592498;35580925;36010968", "class_list": "", "function": "DNAJC17 mutations are not frequently present in patients with thyroid dysgenesis., [RefSeq, PubMed]; May negatively affect PAX8-induced thyroglobulin/TG transcription., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our study expands the clinical and allelic spectrum of known Retinal dystrophies genes, and reveals AGBL5, CDH16, and DNAJC17 as novel disease candidates., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005681 spliceosomal complex;GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0000390 spliceosomal complex disassembly", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9NVM6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UFH2-1", "uniprot_id": [ { "id": "DYH17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UFH2", "type": "external" } ], "mass": 509313.0, "length": 4462, "protein_name": "Dynein axonemal heavy chain 17", "gene_name": "DNAH17", "organism": "Human", "refseq_name": "dynein axonemal heavy chain 17", "refseq_ac": [ { "id": "NP_775899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775899", "type": "external" } ], "gene_names_uniprotkb": "DNAH17; DNAHL1; DNEL2", "gene_names_refseq": "DNAH17; DNAHL1; DNEL2; SPGF39", "protein_names_uniprotkb": "Dynein axonemal heavy chain 17; Axonemal beta dynein heavy chain 17; Axonemal dynein heavy chain-like protein 1; Ciliary dynein heavy chain 17; Ciliary dynein heavy chain-like protein 1; Dynein axonemal light chain 2", "protein_names_refseq": "axonemal beta dynein heavy chain 17; axonemal dynein heavy chain-like protein 1; ciliary dynein heavy chain 17; ciliary dynein heavy chain-like protein 1; dynein axonemal heavy chain 17; dynein axonemal light chain 2; dynein heavy chain 17, axonemal; dynein light chain 2, axonemal; dynein, axonemal, heavy polypeptide 17", "tax_id": 9606, "disease": "spermatogenic failure 39 (Disease Ontology:DOID:0111926); sensorineural hearing loss (Disease Ontology:DOID:10003)", "pathway": " (hsa:8632)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;23481700;25418920;25645385;27893789;27920218;28218747;28228285;28514659;28649982;28834231;29242379;29393594;29557506;29632046;30192525;30315122;30410026;30575322;30620550;31178125;31217245;31658987;31844290;32357974;32387766;32488085;32938616;33070343;33298915;33423959;33912179;34171305;34561969;35051231;35580925;35932098;37574497;9373155;9545504", "class_list": "", "function": "A DNAH17 missense variant causes flagella destabilization and asthenozoospermia., [RefSeq, PubMed]; Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]., [RefSeq]; Force generating protein component of the outer dynein arms (ODAs) in the sperm flagellum (By similarity). Produces force towards the minus ends of microtubules (By similarity). Key component of dynein, a family of motor proteins essential for movement along microtubules (By similarity). Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity). Required for structural and functional integrity of cilia (By similarity). Plays a major role in sperm motility, implicated in sperm flagellar assembly and beating (PubMed:31178125)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Mutations in DNAH17 Cause Isolated Male Infertility Due to Asthenozoospermia., [RefSeq, PubMed]; Novel compound heterozygous variants in dynein axonemal heavy chain 17 cause asthenoteratospermia with sperm flagellar defects., [RefSeq, PubMed]; Novel compound heterozygous variants of DNAH17 in a Chinese infertile man with multiple morphological abnormalities of sperm flagella., [RefSeq, PubMed]; Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice., [RefSeq, PubMed]; Novel mutations in DNAH17 cause sperm flagellum defects and their influence on ICSI outcome. Review article, [RefSeq, PubMed]; We found that overexpression of DNAH17 by down-regulation of methylation levels might contribute to hepatocellular carcinoma (HCC) initiation and progression. In addition, the hypomethylation status of the DNAH17 gene, both in tumor tissue and adjacent non-cancerous tissue, could be a promising biomarker for tumor thrombosis in HCC., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 106, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O00431;O15206;Q2M2Y1;Q6ZRQ2;Q8N7Q7", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0003777 microtubule motor activity;GO:0008569 minus-end-directed microtubule motor activity;GO:0051959 dynein light intermediate chain binding;GO:0045505 dynein intermediate chain binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005874 microtubule;GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0097228 sperm principal piece", "go_biological_process": "GO:0060294 cilium movement involved in cell motility;GO:0036158 outer dynein arm assembly;GO:0060285 cilium-dependent cell motility;GO:0007018 microtubule-based movement", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9UFH2-1", "record_type": "protein", "filter_code": "0000000.1000111.000100.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYB7-1", "uniprot_id": [ { "id": "DI3L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYB7", "type": "external" } ], "mass": 99279.0, "length": 885, "protein_name": "DIS3-like exonuclease 2", "gene_name": "DIS3L2", "organism": "Human", "refseq_name": "DIS3-like exonuclease 2 isoform 2", "refseq_ac": [ { "id": "NP_001244210", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244210", "type": "external" } ], "gene_names_uniprotkb": "DIS3L2; FAM6A", "gene_names_refseq": "DIS3L2; FAM6A; PRLMNS; hDIS3L2", "protein_names_uniprotkb": "DIS3-like exonuclease 2; 3.1.13.-; hDIS3L2", "protein_names_refseq": "DIS3 mitotic control homolog-like 2; DIS3-like exonuclease 2 isoform 2; DIS3-like exonuclease 2; family with sequence similarity 6, member A", "tax_id": 9606, "disease": "Perlman syndrome (Disease Ontology:DOID:0060476); nephroblastoma (Disease Ontology:DOID:2154)", "pathway": " (hsa:129563); (R-HSA-9820865)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "11237011;11352565;17373680;19413330;19608861;20068231;22306653;23186163;23301498;23481700;23486540;23613427;23756462;24141620;24275569;25892735;26154972;26992070;27846572;27862975;28328139;28832583;28904123;31020640;31466720;31844290;31848261;32157095;32357974;32374871;32387766;32457326;32488030;32488085;32938616;32983136;33141586;33298915;33392160;33717175;33936100;33968037;34171305;34509645;35051231;35580925;36241641;36284347;36581221;37340282;39894887", "class_list": "", "function": "3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mitosis, and negatively regulates cell proliferation., [UniProtKB, HAMAP, PubMed, PubMed]; AGO-bound mature miRNAs are oligouridylated by TUTs and subsequently degraded by DIS3L2. Publication Status: Online-Only, [RefSeq, PubMed]; DIS3L2 and LSm proteins are involved in the surveillance of Sm ring-deficient snRNAs. Erratum:[Nucleic Acids Res. 2022 Nov 28;50(21):12597. doi: 10.1093/nar/gkac1154. PMID: 36416267], [RefSeq, PubMed]; DIS3L2 knockdown impairs key oncogenic properties of colorectal cancer cells via the mTOR signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Findings indicate a role for DIS3 like 3'-5' exoribonuclease 2 (DIS3L2) and uridylation in nonsense-mediated mRNA decay (NMD)., [RefSeq, PubMed]; Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Publication Status: Online-Only, [RefSeq, PubMed]; In cellular models DIS3L2 knockdown is associated with abnormalities of cell growth and division, [RefSeq, PubMed]; The Perlman syndrome DIS3L2 exoribonuclease safeguards endoplasmic reticulum-targeted mRNA translation and calcium ion homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53S79;Q580W6;Q5XKH0;Q69YG5;Q6AW99;Q7Z4T6;Q8N9K9", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004540 RNA nuclease activity;GO:0000175 3'-5'-RNA exonuclease activity;GO:0008266 poly(U) RNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0000932 P-body", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0008285 negative regulation of cell population proliferation;GO:0051301 cell division;GO:0019827 stem cell population maintenance;GO:0051306 mitotic sister chromatid separation", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q8IYB7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75165-1", "uniprot_id": [ { "id": "DJC13_HUMAN", "url": "https://www.uniprot.org/uniprot/O75165", "type": "external" } ], "mass": 254415.0, "length": 2243, "protein_name": "DnaJ homolog subfamily C member 13", "gene_name": "DNAJC13", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 13 isoform 2", "refseq_ac": [ { "id": "NP_056083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083", "type": "external" } ], "gene_names_uniprotkb": "DNAJC13; KIAA0678; RME8", "gene_names_refseq": "DNAJC13; PARK21; RME8", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 13; RME-8; Required for receptor-mediated endocytosis 8", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 13; DnaJ domain-containing protein RME-8; dnaJ homolog subfamily C member 13 isoform 2; dnaJ homolog subfamily C member 13; required for receptor-mediated endocytosis 8", "tax_id": 9606, "disease": "late onset Parkinson's disease (Disease Ontology:DOID:0060892); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:23317); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16179350;18256511;18307993;18691976;19413330;19608861;19664994;23481700;23650620;24218364;24643499;24715725;25393719;25418920;25505266;25576301;26154972;26768311;26811146;26929215;26992070;27270108;27846572;28467828;28904123;29242379;29437277;29493099;29557506;29887357;30379171;30429286;31154438;31217245;31844290;31848261;32157095;32322926;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33239198;33298915;33592498;33717175;33912179;33968037;34087483;34357683;34509645;34561969;34932366;35051231;35251023;35318648;35580925;36241641;36284347;37217939;8692836", "class_list": "", "function": "Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease., [RefSeq, PubMed]; Involved in membrane trafficking through early endosomes, such as the early endosome to recycling endosome transport implicated in the recycling of transferrin and the early endosome to late endosome transport implicated in degradation of EGF and EGFR (PubMed:18256511, PubMed:18307993). Involved in the regulation of endosomal membrane tubulation and regulates the dynamics of SNX1 on the endosomal membrane; via association with WASHC2 may link the WASH complex to the retromer SNX-BAR subcomplex (PubMed:24643499)., [UniProtKB, PubMed, PubMed, PubMed]; RME-8 functions in intracellular trafficking and provides the first evidence of a functional role for a DnaJ domain-bearing co-chaperone on endosomes, [RefSeq, PubMed]; Receptor-mediated endocytosis 8 (RME-8)/DNAJC13 is a novel positive modulator of autophagy and stabilizes cellular protein homeostasis., [RefSeq, PubMed]; This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016]., [RefSeq]; This study showed the DNAJC13 mutation screening in patients with Parkinson's disease., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 52, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q3L0T1;Q6PI82;Q6UJ77;Q6ZSW1;Q6ZUT5;Q86XG3;Q96DC1;Q9BWK9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane;GO:0030667 secretory granule membrane", "go_biological_process": "GO:2000641 regulation of early endosome to late endosome transport;GO:0015031 protein transport;GO:0007032 endosome organization;GO:0006898 receptor-mediated endocytosis;GO:0001649 osteoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "O75165-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBX3-1", "uniprot_id": [ { "id": "DIC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBX3", "type": "external" } ], "mass": 31282.0, "length": 287, "protein_name": "Mitochondrial dicarboxylate carrier", "gene_name": "SLC25A10", "organism": "Human", "refseq_name": "mitochondrial dicarboxylate carrier isoform 1", "refseq_ac": [ { "id": "NP_001257817", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257817", "type": "external" } ], "gene_names_uniprotkb": "SLC25A10; DIC", "gene_names_refseq": "DIC; MTDPS19; SLC25A10", "protein_names_uniprotkb": "Mitochondrial dicarboxylate carrier; DIC; Solute carrier family 25 member 10", "protein_names_refseq": "dicarboxylate ion carrier; dicarboxylate transporter), member 10; mitochondrial dicarboxylate carrier isoform 1; mitochondrial dicarboxylate carrier; solute carrier family 25 (mitochondrial carrier", "tax_id": 9606, "disease": "myoclonic-atonic epilepsy (Disease Ontology:DOID:0060475); mitochondrial complex I deficiency (Disease Ontology:DOID:0060536); mitochondrial DNA depletion syndrome (Disease Ontology:DOID:0070329); mitochondrial DNA depletion syndrome 19 (Disease Ontology:DOID:0070450)", "pathway": " (hsa:1468); (R-HSA-1614517); (R-HSA-428643)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "10585886;11237011;11945784;11946196;1252077;12832624;16027120;16303743;16475804;16920706;17459792;17692818;18494801;19136963;19787704;20068231;23393310;24981631;25418920;25645385;25892735;26870663;27846572;28228285;29031613;29211846;29242379;29393594;29557506;30943427;31844290;32157095;32357974;32938616;33592498;34020084;34520823;34561969;35728586;36104652;36241641;38780415;38937634;4441366;4687397;4716993;4719206;4745729;6361026;7470147;8597574", "class_list": "", "function": "Catalyzes the electroneutral exchange or flux of physiologically important metabolites such as dicarboxylates (malonate, malate, succinate), inorganic sulfur-containing anions, and phosphate, across the mitochondrial inner membrane (PubMed:29211846, PubMed:38780415, PubMed:38937634). Substrate exchange across the membrane occurs consecutively with one substrate being transported first, then dissociating from the substrate binding site before the second substrate binds for transport in the opposite direction (PubMed:38937634). Does not transport glutathione (By similarity). Plays an important role in gluconeogenesis, fatty acid metabolism, urea synthesis, and sulfur metabolism, particularly in liver, by supplying the substrates for the different metabolic processes. Regulates fatty acid release from adipocytes, and contributes to systemic insulin sensitivity (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Identified a new protein-protein interaction mechanism in which CLOCK can directly regulate cell metabolism via the mitochondrial membrane transporter SLC25A10., [RefSeq, PubMed]; Slc25a10 plays an important role in supplying malate for citrate transport required for fatty acid synthesis and its inhibition might effectively reduce lipid accumulation in adipose tissues, [RefSeq, PubMed]; The role of PYCR1 in inhibiting 5-fluorouracil-induced ferroptosis and apoptosis through SLC25A10 in colorectal cancer., [RefSeq, PubMed]; This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby providing substrates for metabolic processes including the Krebs cycle and fatty acid synthesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q542Z3;Q96BA1;Q96IP1", "ec_number_list": [], "go_molecular_function": "GO:0015297 antiporter activity;GO:0005310 dicarboxylic acid transmembrane transporter activity;GO:0015116 sulfate transmembrane transporter activity;GO:0015117 thiosulfate transmembrane transporter activity;GO:0015131 oxaloacetate transmembrane transporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:0006869 lipid transport;GO:0006094 gluconeogenesis;GO:0015711 organic anion transport;GO:1902358 sulfate transmembrane transport;GO:0006835 dicarboxylic acid transport", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9UBX3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWS0-1", "uniprot_id": [ { "id": "PIHD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWS0", "type": "external" } ], "mass": 32363.0, "length": 290, "protein_name": "PIH1 domain-containing protein 1", "gene_name": "PIH1D1", "organism": "Human", "refseq_name": "PIH1 domain-containing protein 1", "refseq_ac": [ { "id": "NP_060386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060386", "type": "external" } ], "gene_names_uniprotkb": "PIH1D1; NOP17", "gene_names_refseq": "DNAAF14; MOT48; NOP17; PIH1D1; Pih1", "protein_names_uniprotkb": "PIH1 domain-containing protein 1; Nucleolar protein 17 homolog", "protein_names_refseq": "PIH1 domain-containing protein 1; dynein axonemal assembly factor 14; nucleolar protein 17 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:55011)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11237011;17636026;19450687;20078948;20864032;21078300;22368283;23186163;23481700;24036451;24366607;24656813;24715725;25576301;25880248;25892735;26154972;26992070;27920218;28063628;28228285;28832583;28904123;29242379;29493099;29557506;29632046;29769354;29789417;30033218;30315122;30379171;30410026;31217245;31530632;31738558;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34932366;35051231;35251023;35580925;36241641;37938771", "class_list": "", "function": "An RPAP3:PIH1D1 sub-complex is found demonstrating the need for a 34-residue insertion, specific of RPAP3 isoform 1, for the tight binding of PIH1D1., [RefSeq, PubMed]; Involved in the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles (PubMed:17636026). Recruits the SWI/SNF complex to the core promoter of rRNA genes and enhances pre-rRNA transcription (PubMed:22368283, PubMed:24036451). Mediates interaction of TELO2 with the R2TP complex which is necessary for the stability of MTOR and SMG1 (PubMed:20864032). Positively regulates the assembly and activity of the mTORC1 complex (PubMed:24036451)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Involved in the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles. Recruits the SWI/SNF complex to the core promoter of rRNA genes and enhances pre-rRNA transcription. Mediates interaction of TELO2 with the R2TP complex which is necessary for the stability of MTOR and SMG1. Positively regulates the assembly and activity of the mTORC1 complex., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Is part of an RNA polymerase II-associated complex with possible chaperone activity., [RefSeq, PubMed]; PIH1D1 may stabilize SNF5 by attenuating its proteasome degradation pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DGN7;B4E2X7;Q9BVL0", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0051117 ATPase binding;GO:0051219 phosphoprotein binding;GO:0042393 histone binding;GO:0140566 histone reader activity", "go_cellular_component": "GO:0097255 R2TP complex;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0070761 pre-snoRNP complex", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:1902661 positive regulation of glucose mediated signaling pathway;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0030855 epithelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9NWS0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00548-1", "uniprot_id": [ { "id": "DLL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00548", "type": "external" } ], "mass": 78056.0, "length": 723, "protein_name": "Delta-like protein 1", "gene_name": "DLL1", "organism": "Human", "refseq_name": "delta-like protein 1 precursor", "refseq_ac": [ { "id": "NP_005609", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005609", "type": "external" } ], "gene_names_uniprotkb": "DLL1; PRO172", "gene_names_refseq": "DELTA1; DL1; DLL1; Delta; NEDBAS", "protein_names_uniprotkb": "Delta-like protein 1; Delta1; Drosophila Delta homolog 1; H-Delta-1", "protein_names_refseq": "H-Delta-1; delta-like ligand 1; delta-like protein 1 precursor; delta-like protein 1; drosophila Delta homolog 1; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "chronic pancreatitis (Disease Ontology:DOID:0051065); dilated cardiomyopathy (Disease Ontology:DOID:12930); temporal arteritis (Disease Ontology:DOID:13375); cancer (Disease Ontology:DOID:162); neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures (MONDO:MONDO:0032877)", "pathway": " (hsa:28514); (R-HSA-2122948); (R-HSA-2644606); (R-HSA-2660826); (R-HSA-2691232); (R-HSA-2894862); (R-HSA-2979096); (R-HSA-9013507); (R-HSA-9022702); (R-HSA-9725554); (R-HSA-9793380); (R-HSA-9824272); (R-HSA-9831926)", "pathway_count": 13, "publication_count": 128, "publication_id_list": "10079256;10206645;10551863;10688816;10713164;10879540;10882063;10934472;10958687;10964718;11006133;11044625;11171333;11226752;11237011;11518718;11581320;11740940;11823422;11861489;12050117;12067728;12209127;12354787;12391150;12530964;12624109;12975309;14567914;14593183;14593184;14980219;15107403;15140226;15234001;15509766;15533827;15546612;15556625;15569487;15574878;15652348;15675955;15760269;15780751;15824097;15829515;15965470;16093323;16284625;16297201;16530044;16738328;16773578;17003037;17028573;17114293;17330888;17401372;17646408;17646409;17994015;18043734;18077452;18237417;18296446;1831692;18374649;1840698;18418349;18469519;18628966;18700817;18824583;18824585;19000840;19151708;19208840;19524514;19567869;19726682;19906316;19924134;20156974;20972443;21632553;22162134;22658935;22658936;22735594;23283814;23629652;24025447;24794495;24842903;25125655;25356737;25502872;26340985;28178531;29856954;29856955;30905808;31353024;31399284;3153318;32938750;34894355;35051231;35750470;36935482;38161194;7566092;7588063;803282;8313469;9207787;9207788;9244301;9315665;9384573;9462510;9590294;9604939;9620803;9651681;9694793;9819428", "class_list": "", "function": "Activation of NOTCH signaling via DLL1 is mediated by APE1-redox-dependent NF-kappaB activation in oesophageal adenocarcinoma., [RefSeq, PubMed]; DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008]., [RefSeq]; LINC00460 promotes neuroblastoma tumorigenesis and cisplatin resistance by targeting miR-149-5p/DLL1 axis and activating Notch pathway in vitro and in vivo., [RefSeq, PubMed]; Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series., [RefSeq, PubMed]; The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1. Publication Status: Online-Only, [RefSeq, PubMed]; Transmembrane ligand protein of NOTCH1, NOTCH2 and NOTCH3 receptors that binds the extracellular domain (ECD) of Notch receptor in a cis and trans fashion manner (PubMed:11006133). Following transinteraction, ligand cells produce mechanical force that depends of a clathrin-mediated endocytosis, requiring ligand ubiquitination, EPN1 interaction, and actin polymerization; these events promote Notch receptor extracellular domain (NECD) transendocytosis and triggers Notch signaling through induction of cleavage, hyperphosphorylation, and nuclear accumulation of the intracellular domain of Notch receptors (NICD) (By similarity). Is required for embryonic development and maintenance of adult stem cells in many different tissues and immune systeme; the DLL1-induced Notch signaling is mediated through an intercellular communication that regulates cell lineage, cell specification, cell patterning and morphogenesis through effects on differentiation and proliferation (PubMed:11581320). Plays a role in brain development at different level, namely by regulating neuronal differentiation of neural precursor cells via cell-cell interaction, most likely through the lateral inhibitory system in an endogenous level dependent-manner. During neocortex development, Dll1-Notch signaling transmission is mediated by dynamic interactions between intermediate neurogenic progenitors and radial glia; the cell-cell interactions are mediated via dynamic and transient elongation processes, likely to reactivate/maintain Notch activity in neighboring progenitors, and coordinate progenitor cell division and differentiation across radial and zonal boundaries. During cerebellar development, regulates Bergmann glial monolayer formation and its morphological maturation through a Notch signaling pathway. At the retina and spinal cord level, regulates neurogenesis by preventing the premature differentiation of neural progenitors and also by maintaining progenitors in spinal cord through Notch signaling pathway. Also controls neurogenesis of the neural tube in a progenitor domain-specific fashion along the dorsoventral axis. Maintains quiescence of neural stem cells and plays a role as a fate determinant that segregates asymmetrically to one daughter cell during neural stem cells mitosis, resulting in neuronal differentiation in Dll1-inheriting cell. Plays a role in immune systeme development, namely the development of all T-cells and marginal zone (MZ) B-cells (By similarity). Blocks the differentiation of progenitor cells into the B-cell lineage while promoting the emergence of a population of cells with the characteristics of a T-cell/NK-cell precursor (PubMed:11581320). Also plays a role during muscle development. During early development, inhibits myoblasts differentiation from the medial dermomyotomal lip and later regulates progenitor cell differentiation. Directly modulates cell adhesion and basal lamina formation in satellite cells through Notch signaling. Maintains myogenic progenitors pool by suppressing differentiation through down-regulation of MYOD1 and is required for satellite cell homing and PAX7 expression. During craniofacial and trunk myogenesis suppresses differentiation of cranial mesoderm-derived and somite-derived muscle via MYOD1 regulation but in cranial mesoderm-derived progenitors, is neither required for satellite cell homing nor for PAX7 expression. Also plays a role during pancreatic cell development. During type B pancreatic cell development, may be involved in the initiation of proximodistal patterning in the early pancreatic epithelium. Stimulates multipotent pancreatic progenitor cells proliferation and pancreatic growth by maintaining HES1 expression and PTF1A protein levels. During fetal stages of development, is required to maintain arterial identity and the responsiveness of arterial endothelial cells for VEGFA through regulation of KDR activation and NRP1 expression. Controls sprouting angiogenesis and subsequent vertical branch formation through regulation on tip cell differentiation. Negatively regulates goblet cell differentiation in intestine and controls secretory fat commitment through lateral inhibition in small intestine. Plays a role during inner ear development; negatively regulates auditory hair cell differentiation. Plays a role during nephron development through Notch signaling pathway. Regulates growth, blood pressure and energy homeostasis (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RAK7;B5M0B3;Q9NU41;Q9UJV2", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005112 Notch binding;GO:0030957 Tat protein binding;GO:0097110 scaffold protein binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0045121 membrane raft;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0021688 cerebellar molecular layer formation;GO:0021693 cerebellar Purkinje cell layer structural organization;GO:0032693 negative regulation of interleukin-10 production;GO:0045605 negative regulation of epidermal cell differentiation;GO:0046331 lateral inhibition", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "O00548-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VTE0-1", "uniprot_id": [ { "id": "EF1A3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VTE0", "type": "external" } ], "mass": 50185.0, "length": 462, "protein_name": "Putative elongation factor 1-alpha-like 3", "gene_name": "EEF1A1P5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "EEF1A1P5; EEF1AL3", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative elongation factor 1-alpha-like 3; EF-1-alpha-like 3; Eukaryotic elongation factor 1 A-like 3; Eukaryotic translation elongation factor 1 alpha-1 pseudogene 5; eEF1A-like 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 33 (Disease Ontology:DOID:0080463); dilated cardiomyopathy (Disease Ontology:DOID:12930); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (R-HSA-156842)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "10368288;14978097;20964681;22299025;23783831;24190977;24366607;25576301;27452731;27600516;27920218;28218747;28228285;28446606;28467828;28514659;28649982;28832583;28834231;28855257;28860189;28871256;29242379;29314611;29317506;29331515;29393594;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30192525;30315122;30397120;30410026;30524438;31020640;31154438;31217245;31611695;31844290;32502341;33141586;34357683;34846842;35083852;36240223;37217939;38253038;8812466", "class_list": "", "function": "This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0003746 translation elongation factor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006412 translation;GO:0006414 translational elongation", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q5VTE0-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99961-1", "uniprot_id": [ { "id": "SH3G1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99961", "type": "external" } ], "mass": 41490.0, "length": 368, "protein_name": "Endophilin-A2", "gene_name": "SH3GL1", "organism": "Human", "refseq_name": "endophilin-A2 isoform 2", "refseq_ac": [ { "id": "NP_001186872", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186872", "type": "external" } ], "gene_names_uniprotkb": "SH3GL1; CNSA1; SH3D2B", "gene_names_refseq": "CNSA1; EEN; SH3D2B; SH3GL1; SH3P8", "protein_names_uniprotkb": "Endophilin-A2; EEN fusion partner of MLL; EEN; Endophilin-2; Extra eleven-nineteen leukemia fusion gene protein; SH3 domain protein 2B; SH3 domain-containing GRB2-like protein 1", "protein_names_refseq": "EEN fusion partner of MLL; SH3 domain protein 2B; SH3 domain-containing GRB2-like protein 1; SH3-containing Grb-2-like 1 protein; SH3-domain GRB2-like 1; endophilin-2; endophilin-A2 isoform 2; endophilin-A2; extra 11-19 leukemia fusion; extra eleven-nineteen leukemia fusion gene protein", "tax_id": 9606, "disease": "high grade glioma (Disease Ontology:DOID:3070); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:6455); (R-HSA-182971); (R-HSA-6807004); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8875360)", "pathway_count": 6, "publication_count": 313, "publication_id_list": "10097102;10436022;10514377;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10652316;10766823;10769163;10953014;10983987;11071885;11076969;11081636;11082044;11231140;11237011;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11741535;11823423;11877457;11877461;11889126;11894095;11894096;11919637;11927540;11988742;12057195;12072436;12086608;12213833;12218189;12221107;12234920;12234931;12244174;12429842;12447393;12451172;12464600;12475979;12551915;12593795;12593796;12686592;12717448;12847086;12944396;12952949;12958364;1317852;14505571;14555962;14581451;14617351;14622578;14622579;14662753;14726597;14985334;15021893;15117950;15123609;15134832;15252009;15260957;15318165;15339664;1535555;15465819;15473838;15475003;15502812;15502813;15649145;15671180;15701692;15703209;15728179;15802264;15828871;15895077;15916959;15962011;16054026;16103228;16113677;16159959;16215232;16227611;16326391;16407834;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;17018281;17035995;17158794;17178829;17267500;17287340;17322306;17350572;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17662939;17681954;17713526;17762867;17765681;17978091;18032517;18088087;18093523;18166656;18199683;18212344;18388313;1847920;18669648;18767875;18775314;18790740;18819912;18819921;18981233;19054389;19092055;19109251;19140243;19287005;19296720;19413330;19415658;19458185;19536138;19575674;19603039;19651622;19664995;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19814798;19853559;19900460;20033059;20058876;20059951;20068231;20166139;20211604;20231386;20351096;20428113;20448150;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21376233;21406692;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23186163;23208509;23285027;23297414;23301498;23536704;23823722;23861397;23891661;24130457;24186068;24275569;24384571;24581490;24680432;24746795;24789820;24828152;24966051;25107275;25263444;25303366;25341920;25576301;26042225;26403691;26829388;26992070;27846572;27862975;28832583;2890644;29242379;29493099;29557506;30429286;30484775;30573663;31154438;31217245;31222486;31373491;31492838;31530632;31611695;31844290;31848261;32119511;32157095;32350084;32387766;32488085;32938616;33141586;33298915;33592498;33968037;3417785;34323351;34509645;34932366;35051231;35132862;35154160;35251023;35580925;36010968;36215666;36241641;36284347;37812440;37938771;38665916;40596516;6146630;7541030;7542744;7569928;7657591;7822302;7877694;8524399;8552632;8553074;8621719;8837779;9092476;9100026;9122235;9169142;9169477;9303539;9427626;9428629;9635431;9723620;9736607;9812899", "class_list": "", "function": "Endophilin A2 regulates B-cell endocytosis and is required for germinal center and humoral responses., [RefSeq, PubMed]; Implicated in endocytosis. In a first step mediates neck formation during ultrafast endocytosis and function at a second step to aid in the removal of clathrin coats from the regenerated vesicles (By similarity). May recruit other proteins to membranes with high curvature (By similarity)., [UniProtKB, UniProtKB]; The SH3 binding site in front of the WH1 domain contributes to the membrane binding of the BAR domain protein endophilin A2., [RefSeq, PubMed]; This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DRA1;E7EVZ4;M0QZV5;Q99668", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0045296 cadherin binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0002102 podosome", "go_biological_process": "GO:0006897 endocytosis;GO:0007165 signal transduction;GO:0061024 membrane organization;GO:0007417 central nervous system development;GO:0048488 synaptic vesicle endocytosis", "synthesized_glycan_count": 0, "hit_score": 31.8, "record_id": "Q99961-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95292-1", "uniprot_id": [ { "id": "VAPB_HUMAN", "url": "https://www.uniprot.org/uniprot/O95292", "type": "external" } ], "mass": 27228.0, "length": 243, "protein_name": "Vesicle-associated membrane protein-associated protein B/C", "gene_name": "VAPB", "organism": "Human", "refseq_name": "vesicle-associated membrane protein-associated protein B/C isoform 2", "refseq_ac": [ { "id": "NP_001182606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182606", "type": "external" } ], "gene_names_uniprotkb": "VAPB; PRO983", "gene_names_refseq": "ALS8; VAMP-B; VAP-B; VAPB", "protein_names_uniprotkb": "Vesicle-associated membrane protein-associated protein B/C; VAMP-B/VAMP-C; VAMP-associated protein B/C; VAP-B/VAP-C", "protein_names_refseq": "VAMP (vesicle-associated membrane protein)-associated protein B and C; VAMP-associated 33 kDa protein; vesicle-associated membrane protein-associated protein B/C isoform 2; vesicle-associated membrane protein-associated protein B/C", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 8 (Disease Ontology:DOID:0050752); autosomal dominant adult-onset proximal spinal muscular atrophy (Disease Ontology:DOID:0111194); spinal muscular atrophy (Disease Ontology:DOID:12377); neurodegenerative disease (Disease Ontology:DOID:1289); motor neuron disease (Disease Ontology:DOID:231); amyotrophic lateral sclerosis (Disease Ontology:DOID:332)", "pathway": " (hsa:9217); (R-HSA-1660661); (R-HSA-8980692); (R-HSA-9013106); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013408)", "pathway_count": 7, "publication_count": 346, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10652265;10699171;10722674;10751414;10802064;10847683;10873388;10931946;10947957;11058585;11085924;11145705;11149925;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11784792;11804589;11804590;11864571;11884391;11912491;11919634;11937514;11967128;12071859;12093360;12177196;12195014;12221077;12221096;12376551;12531887;12577064;12650940;12665801;12857875;12877655;12975309;14512443;1464587;14675773;14685229;14685263;14976195;15023524;15063729;15064355;15107133;15133129;15169870;15302923;15328338;15337768;15342493;15372378;15485661;15542837;15601624;15611138;15814684;15850391;15866170;16081809;16100120;16112081;16116428;16118219;16184169;16217026;16227268;16243035;16243036;16339170;16467373;16519628;16565220;16571669;1660188;16630611;16776779;16777452;16777849;16793762;16862148;16891305;16895911;16896804;16914516;17023427;17027967;17050692;17060455;17064668;17077126;17081983;17158234;17214551;17269730;17331073;17355976;17449912;17562871;17591919;17698854;17702745;17765681;17804252;17916560;17932950;17942708;17976533;17982138;18056264;18158243;18165232;18165233;18184806;18191593;18218625;18578522;18662984;18669648;18691976;18707149;18767875;18829452;19005213;19007248;19233134;19289470;19413330;19416851;19494238;19506037;19581409;19605563;19635168;19651622;19673492;19691289;19713215;20030946;20058876;20061445;20068231;20101212;20110355;20166139;20182505;20227395;20400958;20591975;20628200;20660154;20679435;20940299;21148482;21151158;21351730;21378159;21454492;21565175;21576392;21620961;21621533;21699497;21757538;21865595;21936715;21976701;22096251;22131369;22298643;22305756;22517924;22665057;22673745;22720086;22734669;22790947;22911862;22970244;22992742;23087206;23096567;23180825;23186163;23200924;23255595;23301498;23434736;23572525;23602659;23754960;23757206;23870057;23870313;24086303;24102721;24105263;24128008;24259668;24275569;24335996;24352656;24569996;24623723;24659802;24782409;24933155;25114211;25211221;25425145;25576301;25704760;25746724;25788259;25862245;26016997;26371245;26529257;26887924;26992070;27145964;27216196;27481945;27600516;27846572;27852748;27920218;27986909;28112683;28196833;28486133;28575652;28584191;28657654;28834231;28904123;28947137;29146911;29242379;29557506;29563527;29776664;29858488;30429286;30659099;31105010;31154438;31389670;31530632;31844290;31848261;31871319;31895563;31998317;32119511;32162841;32203420;32344433;32350084;32488085;32574038;32983136;33124732;33465208;33592498;33968037;34229054;35051231;35083852;35289036;35409383;35580925;36241641;36902339;36907437;37217939;37224812;37390971;37938771;38267577;38395965;38605278;38665916;40596516;4339164;4817756;7476457;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;8945468;9013646;9111050;9113980;9188692;9305890;9312549;9363775;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9705280;9792683;9822605;9829970;9920726", "class_list": "", "function": "Endoplasmic reticulum (ER)-anchored protein that mediates the formation of contact sites between the ER and endosomes via interaction with FFAT motif-containing proteins such as STARD3 or WDR44 (PubMed:32344433, PubMed:33124732). Interacts with STARD3 in a FFAT motif phosphorylation dependent manner (PubMed:33124732). Via interaction with WDR44 participates in neosynthesized protein export (PubMed:32344433). Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity (PubMed:16891305, PubMed:20940299). Involved in cellular calcium homeostasis regulation (PubMed:22131369)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Motion of VAPB molecules reveals ER-mitochondria contact site subdomains., [RefSeq, PubMed]; Phosphorylation of ELYS promotes its interaction with VAPB at decondensing chromosomes during mitosis., [RefSeq, PubMed]; Stimulating VAPB-PTPIP51 ER-mitochondria tethering corrects FTD/ALS mutant TDP43 linked Ca[2+] and synaptic defects. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]., [RefSeq]; Under conditions of proteasomal inhibition, as encountered in many neurodegenerative diseases including ALS, variant VAPB proteins might accumulate in affected cells and contribute to ALS pathogenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A2A2F2;O95293;Q9P0H0", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0044790 suppression of viral release by host;GO:0044829 host-mediated activation of viral genome replication;GO:0090158 endoplasmic reticulum membrane organization;GO:0046725 negative regulation by virus of viral protein levels in host cell;GO:0036498 IRE1-mediated unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 35.6, "record_id": "O95292-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01906-1", "uniprot_id": [ { "id": "DQA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P01906", "type": "external" } ], "mass": 28033.0, "length": 255, "protein_name": "HLA class II histocompatibility antigen, DQ alpha 2 chain", "gene_name": "HLA-DQA2", "organism": "Human", "refseq_name": "HLA class II histocompatibility antigen, DQ alpha 2 chain precursor", "refseq_ac": [ { "id": "NP_064440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064440", "type": "external" } ], "gene_names_uniprotkb": "HLA-DQA2; HLA-DXA", "gene_names_refseq": "DC-alpha; DQA1; DX-ALPHA; HLA-DCA; HLA-DQA2; HLA-DXA; HLADQA2", "protein_names_uniprotkb": "HLA class II histocompatibility antigen, DQ alpha 2 chain; DX alpha chain; HLA class II histocompatibility antigen, DQ(6) alpha chain; HLA-DQA1; MHC class II DQA2", "protein_names_refseq": "DC-1 alpha chain; DX alpha chain; HLA class II histocompatibility antigen, DQ alpha 1 chain; HLA class II histocompatibility antigen, DQ alpha 2 chain precursor; HLA class II histocompatibility antigen, DQ alpha 2 chain; HLA class II histocompatibility antigen, DQ(6) alpha chain; MHC class I antigen; MHC class II DQA1; MHC class II DQA2; MHC class II antigen", "tax_id": 9606, "disease": "uveitis (Disease Ontology:DOID:13141); asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:3118); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-2132295); (R-HSA-389948); (R-HSA-877300)", "pathway_count": 8, "publication_count": 242, "publication_id_list": "10036229;10064083;10067896;10072072;10480952;10540230;10593899;10631941;10631952;10639150;10671560;10698680;10716940;10747096;10748235;10790433;10809954;10811803;10986460;11048639;11358993;11390650;11529500;11607830;11684289;11752630;11790530;11813165;11827988;11853874;11884229;11972023;12040185;12078484;12198549;12438563;12446674;12473184;12485116;12660731;12742663;12748383;12893276;12915721;12938237;12947224;1396683;14510693;14514672;14586410;14722222;14731593;15084594;1508672;15122200;15125833;15143187;15145317;15322115;15358536;15371334;15388922;15489910;15489916;15530433;15541657;15749704;15911768;16056267;16181339;16237089;16242130;16356853;16356855;16364187;16461343;16467876;16612002;16618111;16824007;16978534;17047224;17072321;17125875;17135271;17142755;17241953;17283181;17363905;17468049;17496917;17548359;17652306;17728323;18046453;18173375;18292509;18362138;18591661;18759926;19092054;19533806;1956401;19564404;20049711;20130243;20304997;20346773;20363976;21116285;21154117;2121367;21441454;21543337;2190094;22407913;22424782;22426112;22645359;23061660;23302904;23580664;23783831;2391366;24190977;24366607;24417533;24714562;24715725;2513578;2530588;25502872;25576301;26154972;26375851;26992070;27726376;28165004;28265006;28467828;29557506;29863979;3036828;30429286;30522017;30573663;31154438;31217245;31313098;31530632;31605414;31844290;31937595;31998317;32157095;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33239784;33592498;33691108;33717175;33912179;33936100;34211107;34433824;34932366;35051231;35154160;35580925;3610256;36215666;36241641;36284347;37938771;37950809;6584734;7479848;7481823;7510216;7514165;7530745;7565724;7592972;7615558;7617032;7650016;7657660;7667286;7673114;7690989;7796299;8026991;8046351;8134367;8145819;8148318;8156998;8176225;8313912;8397411;8415765;8483949;8520027;8530158;8550590;8550631;8598037;8601309;8631301;8642258;8687433;8798379;8824201;8849454;8909537;8939989;8947036;9036956;9075930;9111318;9115214;9143706;9202021;9252186;9311912;9312039;9362451;9497313;9539769;9545226;9606180;9687533;9846482;9850860;9990853", "class_list": "", "function": "Association of GWAS-supported noncoding area loci rs404860, rs3117098, and rs7775228 with asthma in Chinese Zhuang population., [RefSeq, PubMed]; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading., [UniProtKB, PubMed]; Proteome-wide Mendelian randomization highlights AIF1 and HLA-DQA2 as targets for primary sclerosing cholangitis., [RefSeq, PubMed]; This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A2BF37;B0V0E7;O19789;Q5SQ94;Q5SR04", "ec_number_list": [], "go_molecular_function": "GO:0023026 MHC class II protein complex binding;GO:0042605 peptide antigen binding;GO:0032395 MHC class II receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0032588 trans-Golgi network membrane;GO:0005765 lysosomal membrane;GO:0030658 transport vesicle membrane", "go_biological_process": "GO:0006955 immune response;GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II;GO:0002503 peptide antigen assembly with MHC class II protein complex;GO:0002250 adaptive immune response;GO:0050870 positive regulation of T cell activation", "synthesized_glycan_count": 0, "hit_score": 24.5, "record_id": "P01906-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVF4-1", "uniprot_id": [ { "id": "DYH10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVF4", "type": "external" } ], "mass": 514841.0, "length": 4471, "protein_name": "Dynein axonemal heavy chain 10", "gene_name": "DNAH10", "organism": "Human", "refseq_name": "dynein axonemal heavy chain 10 isoform 1", "refseq_ac": [ { "id": "NP_997320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997320", "type": "external" } ], "gene_names_uniprotkb": "DNAH10; KIAA2017", "gene_names_refseq": "DNAH10; SPGF56", "protein_names_uniprotkb": "Dynein axonemal heavy chain 10; Axonemal beta dynein heavy chain 10; Ciliary dynein heavy chain 10", "protein_names_refseq": "axonemal beta dynein heavy chain 10; ciliary dynein heavy chain 10; dynein axonemal heavy chain 10 isoform 1; dynein heavy chain 10, axonemal; dynein, axonemal, heavy polypeptide 10", "tax_id": 9606, "disease": "idiopathic scoliosis (Disease Ontology:DOID:0060250); spermatogenic failure (Disease Ontology:DOID:0111910); spermatogenic failure 56 (Disease Ontology:DOID:0112336); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:196385)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10.1101/2023.09.13.557529;11175280;11237011;19159218;19936222;20068231;23481700;23646949;24715725;24855945;25645385;26375851;26992070;27543614;27600516;29242379;29351928;29557506;29786170;29789417;31092671;31154438;31217245;31836722;31844290;31959735;32350084;32387766;32488085;32983136;33968037;33981976;34087483;34211107;34237282;34657236;35051231;35580925;36010968;37217939;37258679;37314648", "class_list": "", "function": "Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice., [RefSeq, PubMed]; Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility., [RefSeq, PubMed]; DNAH10 mutation correlates with cisplatin sensitivity and tumor mutation burden in small-cell lung cancer., [RefSeq, PubMed]; Discovery of increased epidermal DNAH10 expression after regeneration of dermis in a randomized with-in person trial - reflections on psoriatic inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice., [RefSeq, PubMed]; Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008]., [RefSeq]; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (PubMed:34237282). Probable inner arm dynein heavy chain., [UniProtKB, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 85, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "C9JMF5;O95495;Q6ZUC9;Q6ZUP6;Q8N761", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0008569 minus-end-directed microtubule motor activity;GO:0051959 dynein light intermediate chain binding;GO:0045505 dynein intermediate chain binding", "go_cellular_component": "GO:0005874 microtubule;GO:0097228 sperm principal piece;GO:0030286 dynein complex;GO:0005858 axonemal dynein complex;GO:0097729 9+2 motile cilium", "go_biological_process": "GO:0060294 cilium movement involved in cell motility;GO:0007018 microtubule-based movement", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8IVF4-1", "record_type": "protein", "filter_code": "0000000.1000111.000100.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L591-1", "uniprot_id": [ { "id": "DOK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L591", "type": "external" } ], "mass": 53288.0, "length": 496, "protein_name": "Docking protein 3", "gene_name": "DOK3", "organism": "Human", "refseq_name": "docking protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001138347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138347", "type": "external" } ], "gene_names_uniprotkb": "DOK3", "gene_names_refseq": "DOK3; DOKL", "protein_names_uniprotkb": "Docking protein 3; Downstream of tyrosine kinase 3", "protein_names_refseq": "Dok-like protein; docking protein 3 isoform 2; downstream of tyrosine kinase 3", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861)", "pathway": " (hsa:79930); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "11237011;12595900;16436051;16497976;18088087;20058876;23186163;23650620;25576301;25880248;25892735;26154972;26375851;26992070;27397612;28228285;28467828;28832583;28904123;29242379;29508533;29557506;29632046;29632711;29769354;30379171;30429286;31154438;31530632;31844290;31848261;32157095;32350084;32387766;32502341;32897882;33091337;33141586;33392160;33912179;33936100;34509645;34932366;35051231;35154160;35251023;35580925;36172386;36210538;37235715;37906628;37938771;8692836", "class_list": "", "function": "DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK3 is a negative regulator of JNK signaling in B-cells through interaction with INPP5D/SHIP1. May modulate ABL1 function (By similarity)., [UniProtKB]; DOK3 promotes atopic dermatitis by enabling the phosphatase PP4C to inhibit the T cell signaling mediator CARD11., [RefSeq, PubMed]; Dok3 restrains neutrophil production of calprotectin during TLR4 sensing of SARS-CoV-2 spike protein. Publication Status: Online-Only, [RefSeq, PubMed]; Expression and clinical significance of DOK3 in renal clear cell carcinoma., [RefSeq, PubMed]; Findings indicate that Dok-3 sequesters Grb2 from Shc and inhibits the Ras-Erk pathway downstream of PTKs, [RefSeq, PubMed]; Porphyromonas gingivalis Activation of Tumor-Associated Macrophages via DOK3 Promotes Recurrence of Oral Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E9PAT0;H7BXS0;Q8N864;Q9BQB3;Q9H666", "ec_number_list": [], "go_molecular_function": "GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030667 secretory granule membrane;GO:0101003 ficolin-1-rich granule membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0007265 Ras protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q7L591-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4J8-1", "uniprot_id": [ { "id": "DTNA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4J8", "type": "external" } ], "mass": 83901.0, "length": 743, "protein_name": "Dystrobrevin alpha", "gene_name": "DTNA", "organism": "Human", "refseq_name": "dystrobrevin alpha isoform 9", "refseq_ac": [ { "id": "NP_001121647", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121647", "type": "external" } ], "gene_names_uniprotkb": "DTNA; DRP3", "gene_names_refseq": "D18S892E; DRP3; DTN-A; DTNA; DTN; LVNC1; MMCKR2", "protein_names_uniprotkb": "Dystrobrevin alpha; Alpha-dystrobrevin; DTN-A; Dystrophin-related protein 3", "protein_names_refseq": "dystrobrevin alpha isoform 9; dystrophin-related protein 3", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); alcohol dependence (Disease Ontology:DOID:0050741); left ventricular noncompaction (Disease Ontology:DOID:0060480); myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 (Disease Ontology:DOID:0061184); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); sciatic neuropathy (Disease Ontology:DOID:11446); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); morbid obesity (Disease Ontology:DOID:11981); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); anxiety disorder (Disease Ontology:DOID:2030); morphine dependence (Disease Ontology:DOID:2560); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1837); (R-HSA-9913351)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10022829;10189375;10441321;10545507;10735273;10747910;10893187;10932245;10942431;11237011;11238270;11352924;11430802;11495720;12189167;1319059;15175026;16524571;17905726;18764929;19346169;19413330;19664994;19946898;20044576;22159078;22223806;22577143;23481700;26992070;27543614;29118297;29331515;29393594;29557506;29632046;30379171;31154438;31217245;31844290;31848261;32157095;32387766;3282674;32897882;32938616;32983136;33141586;33298915;33592498;33968037;33981976;34087483;34509645;35051231;35148685;35580925;36010968;36284347;36799992;37074911;7527495;7547961;7592992;7844150;7925941;8043271;8268918;8349731;8576247;8607994;8627307;8798547;8845841;9214383;9405466;9412493;9652404;9701558;9864373", "class_list": "", "function": "May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors., [UniProtKB]; The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Variants in DTNA cause a mild, dominantly inherited muscular dystrophy., [RefSeq, PubMed]; Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 14, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K541;A8MSZ0;A8MUY4;B4DGS6;B4DIR0;B4DIU8;M0QYX6;M0R397;O15332;O15333;O75697;Q13197;Q13198;Q13199;Q13498;Q13499;Q13500;Q59GK7;Q9BS59", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030054 cell junction;GO:0030424 axon;GO:0031234 extrinsic component of cytoplasmic side of plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007274 neuromuscular synaptic transmission;GO:0007268 chemical synaptic transmission;GO:0006941 striated muscle contraction;GO:0099536 synaptic signaling", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q9Y4J8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EK5-1", "uniprot_id": [ { "id": "KBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EK5", "type": "external" } ], "mass": 71814.0, "length": 621, "protein_name": "KIF-binding protein", "gene_name": "KIFBP", "organism": "Human", "refseq_name": "KIF-binding protein", "refseq_ac": [ { "id": "NP_056449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056449", "type": "external" } ], "gene_names_uniprotkb": "KIFBP; KBP; KIAA1279; KIF1BP", "gene_names_refseq": "KBP; KIAA1279; KIF1BP; KIFBP; TTC20", "protein_names_uniprotkb": "KIF-binding protein; KIF1-binding protein; Kinesin family binding protein", "protein_names_refseq": "KIF-binding protein; kinesin binding protein; mutant KIF1 binding protein", "tax_id": 9606, "disease": "Goldberg-Shprintzen syndrome (Disease Ontology:DOID:0060481)", "pathway": " (hsa:26128)", "pathway_count": 1, "publication_count": 88, "publication_id_list": "11237011;15883926;16225668;16385451;20112406;20621975;23186163;23427148;23481700;24366607;24715725;25576301;25645385;25880248;25892735;26154972;26375851;26758079;26768311;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28228285;28446606;28510447;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32119511;32157095;32265295;32357974;32387766;32488085;32502341;32938616;32939943;32983136;33141586;33252036;33298915;33537174;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34357683;34405274;34509645;34561969;34932366;35051231;35154160;35580925;36010968;36215666;36284347;37903629;37938771;38665916;39302247", "class_list": "", "function": "Activator of KIF1B plus-end-directed microtubule motor activity (PubMed:16225668). Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development., [UniProtKB, PubMed, PubMed, PubMed]; Activator of KIF1B plus-end-directed microtubule motor activity. Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP., [RefSeq, PubMed]; KBP is a new binding partner for KIF1Balpha that is a regulator of its transport function and thus represents a new type of kinesin interacting protein. Publication Status: Online-Only, [RefSeq, PubMed]; KBP-cytoskeleton interactions is involved in neuronal development in Goldberg-Shprintzen syndrome., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene., [RefSeq, PubMed]; The mechanism of kinesin inhibition by kinesin-binding protein. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K5M8;Q9BR89;Q9ULE1;Q9Y428", "ec_number_list": [], "go_molecular_function": "GO:0019894 kinesin binding;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005856 cytoskeleton", "go_biological_process": "GO:0047497 mitochondrion transport along microtubule;GO:1990535 neuron projection maintenance;GO:0021952 central nervous system projection neuron axonogenesis;GO:0000226 microtubule cytoskeleton organization;GO:0010970 transport along microtubule", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q96EK5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HDC5-1", "uniprot_id": [ { "id": "JPH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HDC5", "type": "external" } ], "mass": 71686.0, "length": 661, "protein_name": "Junctophilin-1", "gene_name": "JPH1", "organism": "Human", "refseq_name": "junctophilin-1", "refseq_ac": [ { "id": "NP_001304759", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304759", "type": "external" } ], "gene_names_uniprotkb": "JPH1; JP1", "gene_names_refseq": "CMT2K; CMYO25; JP-1; JP1; JPH1", "protein_names_uniprotkb": "Junctophilin-1; JP-1; Junctophilin type 1", "protein_names_refseq": "junctophilin type 1; junctophilin-1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); congenital myopathy 25 (Disease Ontology:DOID:0061256); Charcot-Marie-Tooth disease axonal type 2K (Disease Ontology:DOID:0110167)", "pathway": " (hsa:56704)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10891348;11237011;17081983;18669648;18767875;19413330;19651622;19691289;20068231;21406692;23186163;25168384;25576301;26992070;29557506;30620550;30804591;32157095;32938616;33392160;33968037;33981976;34171305;35051231;35089322;36724092;39209426", "class_list": "", "function": "Charcot Marie Tooth 2K patients with early and late onset were analyzed for association of rs139723190 SNP in JPH1 gene responsible for CMT type severe and mild phenotypes., [RefSeq, PubMed]; Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]., [RefSeq]; Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence., [RefSeq, PubMed]; Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH1 contributes to the construction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes., [UniProtKB]; Muscle calcium stress cleaves junctophilin1, unleashing a gene regulatory program predicted to correct glucose dysregulation. Publication Status: Online-Only, [RefSeq, PubMed]; Results show that JPH1 and GDAP1 share a common pathway and depend on each other; therefore, JPH1 can contribute to the phenotypical consequences of GDAP1 mutations., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RTZ0", "ec_number_list": [], "go_molecular_function": "GO:0008307 structural constituent of muscle", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0030018 Z disc;GO:0014701 junctional sarcoplasmic reticulum membrane", "go_biological_process": "GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;GO:0060402 calcium ion transport into cytosol;GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9HDC5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46734-1", "uniprot_id": [ { "id": "MP2K3_HUMAN", "url": "https://www.uniprot.org/uniprot/P46734", "type": "external" } ], "mass": 39318.0, "length": 347, "protein_name": "Dual specificity mitogen-activated protein kinase kinase 3", "gene_name": "MAP2K3", "organism": "Human", "refseq_name": "dual specificity mitogen-activated protein kinase kinase 3 isoform A", "refseq_ac": [ { "id": "NP_001303261", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303261", "type": "external" } ], "gene_names_uniprotkb": "MAP2K3; MEK3; MKK3; PRKMK3; SKK2", "gene_names_refseq": "MAP2K3; MAPKK3; MEK3; MKK3; PRKMK3; SAPKK-2; SAPKK2", "protein_names_uniprotkb": "Dual specificity mitogen-activated protein kinase kinase 3; 2.7.12.2; MAP kinase kinase 3; MAPK/ERK kinase 3; MAPKK 3; MEK 3; SAPK kinase 2; SAPKK-2; SAPKK2; Stress-activated protein kinase kinase 2", "protein_names_refseq": "MAP kinase kinase 3; MAPK/ERK kinase 3; MAPKK 3; MEK 3; SAPK kinase 2; dual specificity mitogen-activated protein kinase kinase 3 isoform A; dual specificity mitogen-activated protein kinase kinase 3; stress-activated protein kinase kinase 2", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); breast cancer (Disease Ontology:DOID:1612); colon cancer (Disease Ontology:DOID:219); glioblastoma (Disease Ontology:DOID:3068); malignant astrocytoma (Disease Ontology:DOID:3069); restrictive cardiomyopathy (Disease Ontology:DOID:397); cervical cancer (Disease Ontology:DOID:4362); retinal disease (Disease Ontology:DOID:5679); liver benign neoplasm (Disease Ontology:DOID:916)", "pathway": " (hsa:5606); (R-HSA-2559580); (R-HSA-450302)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10347217;10722742;10772813;10871633;11237011;11279118;11414763;11564866;11980910;12134156;12171911;12189133;12193592;12421820;12435631;12808055;13130464;14507994;14532106;15287722;15563468;15837794;15866172;16186825;16337592;16436515;16709866;16728640;16826196;17210787;17254968;17255097;17332741;17344414;17344846;17395714;17765224;17825402;17875933;18365017;18793328;19413330;19451217;19451218;19462008;19528227;19920149;20058876;20068231;20166139;21224381;21986495;22020331;22325352;22336108;22564745;22683641;22869377;25576301;26992070;27600516;27846572;28218747;28411811;28510447;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29557506;30315122;30524438;31844290;32157095;32357974;32387766;32938616;32983136;33298915;33592498;33691108;33912179;33968037;34019948;34087483;34509645;34830095;34932366;35051231;35193931;35580925;36010968;36241641;36870282;37713993;38665916;7535770;7588633;7816143;7839144;7859739;8001816;8078588;8259215;8319905;8533096;8622669;8622688;8626550;8741839;8774846;8846784;8900184;8974401;9030721;9162092;9195981;9529249;9564042;9628874;9768359;9786855;9824166", "class_list": "", "function": "Activated MKK3/MYC crosstalk impairs dabrafenib response in BRAFV600E colorectal cancer leading to resistance., [RefSeq, PubMed]; Dual specificity kinase. Is activated by cytokines and environmental stress in vivo. Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the MAP kinase p38. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14., [UniProtKB, PubMed, PubMed]; Identification of MAP Kinase Kinase 3 as a protein target of myricetin in non-small cell lung cancer cells., [RefSeq, PubMed]; Quadruple and Truncated MEK3 Mutants Identified from Acute Lymphoblastic Leukemia Promote Degradation and Enhance Proliferation. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KSK7;Q99441;Q9UE71;Q9UE72", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0004708 MAP kinase kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0072709 cellular response to sorbitol;GO:0002931 response to ischemia;GO:0007165 signal transduction;GO:0007507 heart development;GO:0000165 MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P46734-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3M7-1", "uniprot_id": [ { "id": "TXNIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3M7", "type": "external" } ], "mass": 43661.0, "length": 391, "protein_name": "Thioredoxin-interacting protein", "gene_name": "TXNIP", "organism": "Human", "refseq_name": "thioredoxin-interacting protein isoform 2", "refseq_ac": [ { "id": "NP_001300901", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300901", "type": "external" } ], "gene_names_uniprotkb": "TXNIP; VDUP1", "gene_names_refseq": "ARRDC6; EST01027; HHCPA78; THIF; TXNIP; VDUP1", "protein_names_uniprotkb": "Thioredoxin-interacting protein; Thioredoxin-binding protein 2; Vitamin D3 up-regulated protein 1", "protein_names_refseq": "thioredoxin binding protein 2; thioredoxin-interacting protein isoform 2; upregulated by 1,25-dihydroxyvitamin D-3; vitamin D3 up-regulated protein 1", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); Reye syndrome (Disease Ontology:DOID:14525); glaucoma (Disease Ontology:DOID:1686); renal cell carcinoma (Disease Ontology:DOID:4450); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:10628); (R-HSA-844456); (R-HSA-9617629); (R-HSA-9660826); (R-HSA-9707564)", "pathway_count": 5, "publication_count": 124, "publication_id_list": "11157473;11313357;11498534;11786556;11967258;12191486;12615073;12821938;12969439;14595024;14761955;14976264;15220471;16568091;17036048;17074750;17264172;17349957;17435760;17603038;17703304;18541147;18669648;18991276;19570822;19690164;19968714;20023662;20068034;20068231;20303873;20929863;21460850;2182768;22427940;23481700;23519408;23665396;23817414;23878142;24715725;24843047;25576301;25645385;25892735;26116704;26154972;26549800;26992070;27397612;27846572;27862975;27920218;28218747;28228285;28698372;28832583;28904123;29242379;29331515;29378950;29393594;29437277;29493099;29557506;29632711;29712950;29786170;29789417;30410860;30429286;30484775;30524438;31164864;31217245;31373491;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33123756;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;34087483;34171305;3427020;34405274;34509645;34561969;3475708;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37534934;37938771;38616177;38884152;39020292;39075518;450099;6094553;8086474;9023774", "class_list": "", "function": "Increased level of TXNIP and nuclear translocation of TXN is associated with end stage renal disease and development of multiplex renal tumours. Publication Status: Online-Only, [RefSeq, PubMed]; May act as an oxidative stress mediator by inhibiting thioredoxin activity or by limiting its bioavailability (PubMed:17603038). Interacts with COPS5 and restores COPS5-induced suppression of CDKN1B stability, blocking the COPS5-mediated translocation of CDKN1B from the nucleus to the cytoplasm (By similarity). Functions as a transcriptional repressor, possibly by acting as a bridge molecule between transcription factors and corepressor complexes, and over-expression will induce G0/G1 cell cycle arrest (PubMed:12821938). Required for the maturation of natural killer cells (By similarity). Acts as a suppressor of tumor cell growth (PubMed:18541147). Inhibits the proteasomal degradation of DDIT4, and thereby contributes to the inhibition of the mammalian target of rapamycin complex 1 (mTORC1) (PubMed:21460850)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; TXNIP deficiency attenuates renal fibrosis by modulating mTORC1/TFEB-mediated autophagy in diabetic kidney disease., [RefSeq, PubMed]; TXNIP mediated by EZH2 regulated osteogenic differentiation in hBmscs and MC3T3-E1 cells through the modulation of oxidative stress and PI3K/AKT/Nrf2 pathway., [RefSeq, PubMed]; Targeting TXNIP in endothelial progenitors mitigates IL-8-induced neutrophil recruitment under metabolic stress. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a thioredoxin-binding protein that is a member of the alpha arrestin protein family. Thioredoxin is a thiol-oxidoreductase that is a major regulator of cellular redox signaling which protects cells from oxidative stress. This protein inhibits the antioxidative function of thioredoxin resulting in the accumulation of reactive oxygen species and cellular stress. This protein also functions as a regulator of cellular metabolism and of endoplasmic reticulum (ER) stress. This protein may also function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]., [RefSeq]; Txnip is located in the endoplasmic reticulum and interacts with endogenous PDIA6. Txnip increases PDI activity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4E3D3;Q16226;Q6PML0;Q9BXG9", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0004857 enzyme inhibitor activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0071228 cellular response to tumor cell;GO:0006351 DNA-templated transcription;GO:0006954 inflammatory response;GO:0006979 response to oxidative stress;GO:0042127 regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q9H3M7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P9A3-1", "uniprot_id": [ { "id": "ZN549_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P9A3", "type": "external" } ], "mass": 74439.0, "length": 640, "protein_name": "Zinc finger protein 549", "gene_name": "ZNF549", "organism": "Human", "refseq_name": "zinc finger protein 549 isoform 1", "refseq_ac": [ { "id": "NP_001186224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186224", "type": "external" } ], "gene_names_uniprotkb": "ZNF549", "gene_names_refseq": "ZNF549", "protein_names_uniprotkb": "Zinc finger protein 549", "protein_names_refseq": "zinc finger protein 549 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:256051); (R-HSA-212436)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;28832583;28834231;29493099;31844290;32157095;32938616;34171305;35051231;38253038;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KV91;O43336;Q8NAR4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q6P9A3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22392-1", "uniprot_id": [ { "id": "NDKB_HUMAN", "url": "https://www.uniprot.org/uniprot/P22392", "type": "external" } ], "mass": 17298.0, "length": 152, "protein_name": "Nucleoside diphosphate kinase B", "gene_name": "NME1-NME2; NME2", "organism": "Human", "refseq_name": "nucleoside diphosphate kinase B isoform a", "refseq_ac": [ { "id": "NP_001018147", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018147", "type": "external" } ], "gene_names_uniprotkb": "NME1-NME2; NME2; NDK2; NM23B", "gene_names_refseq": "NDK2; NDKB; NDPK B; NDPK-B; NDPKB; NM23-H2; NM23B; NME2; PUF", "protein_names_uniprotkb": "Nucleoside diphosphate kinase B; 2.7.13.3; 2.7.4.6; C-myc purine-binding transcription factor PUF; Histidine protein kinase NDKB; NDK2; NDP kinase B; NDPK B; Nucleoside diphoshate kinase 2; nm23-H2", "protein_names_refseq": "HEL-S-155an; NDP kinase B; c-myc purine-binding transcription factor PUF; c-myc transcription factor; epididymis secretory sperm binding protein Li 155an; histidine protein kinase NDKB; non-metastatic cells 2, protein (NM23) expressed in; non-metastatic cells 2, protein (NM23B) expressed in; nucleoside diphoshate kinase 2; nucleoside diphosphate kinase B isoform a; nucleoside diphosphate kinase B; nucleotide diphosphate kinase B", "tax_id": 9606, "disease": "urinary bladder cancer (Disease Ontology:DOID:11054); prostatic hypertrophy (Disease Ontology:DOID:11132); arteriosclerosis (Disease Ontology:DOID:2349); ovarian cancer (Disease Ontology:DOID:2394); teratoma (Disease Ontology:DOID:3307); ovarian carcinoma (Disease Ontology:DOID:4001); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:4831); (hsa:654364); (R-HSA-499943); (R-HSA-6798695); (R-HSA-9748787); (R-HSA-9755088)", "pathway_count": 6, "publication_count": 212, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10840050;10884394;10899599;11121025;11237011;11277919;11278511;11517226;11694515;11796141;11912132;11919189;12435799;12499231;12606760;12697733;12972261;13211603;14729598;15249197;15630091;15747503;15850391;15861032;15917509;16179339;16265592;16313181;16373698;16442775;16446384;16530731;16717136;16756507;16820675;17157250;17301077;17320107;17412768;17532299;177353;17824959;17996297;18469;1851158;18635542;18635603;18997010;19033359;19164483;19176520;19220460;19435876;19615748;19651622;19766732;197968;1988104;20068231;20096989;20173735;20216118;20486858;20504255;20946858;21080915;211388;211390;21396942;2159925;21723252;22444596;22645359;22847445;22905912;23096567;23328677;23416111;23650620;23816837;24107682;24824603;24957263;24974183;25418920;2542324;25576301;25679041;26024233;26154972;26238318;2656695;2668278;26992070;2737800;27452731;27600516;27920218;280136;28063628;28218747;28228285;28467828;28514659;28832583;29242379;29314611;29393594;29437277;29482072;29493099;29557506;29563135;29580856;29632046;29632711;29786170;30045981;30192525;30315122;30397120;30410026;30524438;30573663;30716294;30779550;30833945;30987408;31154438;31217245;31222486;31520644;31530632;31844290;31848261;32119511;32157095;32265295;32350084;32357974;32387766;32492501;32502341;32897882;32938616;33043033;33086728;33141586;33214551;33298915;33465208;33537174;33592498;33633747;33717175;33936100;33968037;34019948;34087483;34171305;34229054;34357683;34405274;34509645;34628473;34725712;35051231;35138101;35154160;35251023;35259022;35318648;35561310;36010968;36215666;36240223;36241641;38665916;39190717;40596516;40615;5484814;5767308;6182143;6248551;657528;6989049;7488060;7658474;7685356;7851394;8226881;8245015;8392752;8448179;8626464;8663313;8670112;8692836;8747457;9099726;9132023;942489;9488696;9605565;9647364;9677297", "class_list": "", "function": "Catalyzes the transfer of a gamma-phosphoryl group from a nucleoside triphosphate, mainly ATP, to a nucleoside diphosphate via a ping-pong mechanism involving a phosphohistidine intermediate, therefore contributing to the nucleoside triphosphate homeostasis (PubMed:11121025, PubMed:16313181, PubMed:1851158, PubMed:25679041). Also functions as a histidine protein kinase by transferring the phosphoryl group from the phosphohistidine intermediate to a histidine residue in target proteins (PubMed:17157250, PubMed:20946858). Phosphorylates the GNB1 subunit of heterotrimeric G proteins at 'His-266', generating a high-energy phosphate group that promotes GTP formation and enables receptor-independent activation of heterotrimeric G proteins (By similarity). Also phosphorylates KCNN4 at 'His-358', leading to activation of its intermediate conductance calcium-activated potassium channel activity, Ca(2+) influx, and subsequent activation of B and T cells (PubMed:17157250). Additionally involved in transcriptional regulation through direct DNA binding and chromatin remodeling (PubMed:11121025, PubMed:11694515, PubMed:19033359, PubMed:19435876, PubMed:25679041, PubMed:8392752). In this context, functions as a single-stranded DNA binding protein that binds and stabilizes the G-quadruplex (G4) structures within the nuclease hypersensitive element (NHE) III(1) region of the MYC gene promoter, facilitating recruitment of additional single-strand DNA binding proteins and activation of MYC transcription (PubMed:19033359, PubMed:19435876, PubMed:25679041, PubMed:8392752). G4 DNA-binding activity is independent of its nucleoside diphosphate kinase function and recognizes both folded and unfolded G4 structures (PubMed:25679041). With NME1, may regulate acetyl-CoA (AcCoA) usage between histone acetylation and fatty acid synthesis by targeting AcCoA release at ATP-rich, HAT-associated chromatin regions (By similarity). Also negatively regulates Rho activity by interacting with AKAP13/LBC (PubMed:15249197)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Inosine 5'-diphosphate, a molecular decoy rescues Nucleoside diphosphate kinase from c-MYC G-Quadruplex unfolding., [RefSeq, PubMed]; Involvement of NDPK-B in Glucose Metabolism-Mediated Endothelial Damage via Activation of the Hexosamine Biosynthesis Pathway and Suppression of O-GlcNAcase Activity. Publication Status: Online-Only, [RefSeq, PubMed]; Long-chain fatty acyl coenzyme A inhibits NME1/2 and regulates cancer metastasis., [RefSeq, PubMed]; Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by NME1) and 'B' (encoded by this gene) isoforms. Multiple alternatively spliced transcript variants have been found for this gene. Read-through transcription from the neighboring upstream gene (NME1) generates naturally-occurring transcripts (NME1-NME2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Nov 2010]., [RefSeq]; Requirement of transcription factor NME2 for the maintenance of the stemness of gastric cancer stem-like cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MWA3;Q1WM23;Q6LCT6", "ec_number_list": [ { "id": "2.7.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.10", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" }, { "id": "2.7.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.4", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "2.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.7", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "1.13.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-", "type": "external" }, { "id": "1.13.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.34", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "1.11.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.7", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "3.4.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.1", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.4.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.14", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0120225 coenzyme A binding;GO:0003677 DNA binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0016301 kinase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030027 lamellipodium", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway;GO:0043066 negative regulation of apoptotic process;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "P22392-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P81408-1", "uniprot_id": [ { "id": "EREP3_HUMAN", "url": "https://www.uniprot.org/uniprot/P81408", "type": "external" } ], "mass": 71355.0, "length": 668, "protein_name": "Protein ENTREP3", "gene_name": "ENTREP3", "organism": "Human", "refseq_name": "protein ENTREP3 isoform c", "refseq_ac": [ { "id": "NP_001254537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254537", "type": "external" } ], "gene_names_uniprotkb": "ENTREP3; C1orf2; COTE1; FAM189B", "gene_names_refseq": "C1orf2; COTE1; ENTREP3; FAM189B", "protein_names_uniprotkb": "Protein ENTREP3; Endosomal transmembrane epsin interactor 3; Protein COTE1", "protein_names_refseq": "family with sequence similarity 189 member B; protein ENTREP3 isoform c; protein ENTREP3; protein FAM189B", "tax_id": 9606, "disease": "", "pathway": " (hsa:10712)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15064722;16959974;18669648;23186163;23317259;24190977;24899407;25418920;25880248;26929215;27846572;27862975;28832583;28904123;29242379;29493099;29557506;30315122;30429286;30779550;31154438;31222486;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32502341;32938616;32983136;33592498;33981976;34124264;34932366;35051231;35580925;36241641;36284347;37454876;37780485;9331372", "class_list": "", "function": "COTE-1 promotes the proliferation and invasion of small cell lung cancer by regulating autophagy activity via the AMPK/mTOR signaling pathway., [RefSeq, PubMed]; COTE1 Facilitates Intrahepatic Cholangiocarcinoma Progression via Beclin1-Dependent Autophagy Inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; High FAM189B Expression and Its Prognostic Value in Patients with Gastric Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Our findings suggest that the cytoplasmic protein COTE1 contributes to hepatocellular carcinoma tumorigenesis by regulating cell proliferation through the modulation of WWOX signaling, [RefSeq, PubMed]; Overexpression of COTE1 promotes cellular invasion of hepatocellular carcinoma., [RefSeq, PubMed]; This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B1AVS5;Q8IXL3;Q9BR66", "ec_number_list": [], "go_molecular_function": "GO:0050699 WW domain binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "P81408-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR20-1", "uniprot_id": [ { "id": "DYRK4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR20", "type": "external" } ], "mass": 59608.0, "length": 520, "protein_name": "Dual specificity tyrosine-phosphorylation-regulated kinase 4", "gene_name": "DYRK4", "organism": "Human", "refseq_name": "dual specificity tyrosine-phosphorylation-regulated kinase 4 isoform 1", "refseq_ac": [ { "id": "NP_003836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003836", "type": "external" } ], "gene_names_uniprotkb": "DYRK4", "gene_names_refseq": "DYRK4", "protein_names_uniprotkb": "Dual specificity tyrosine-phosphorylation-regulated kinase 4; 2.7.12.1", "protein_names_refseq": "dual specificity tyrosine-(Y)-phosphorylation regulated kinase 4; dual specificity tyrosine-phosphorylation-regulated kinase 4 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8798)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11062477;11237011;17292540;17344846;21127067;24715725;25576301;26154972;26992070;27846572;27869121;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;30315122;30379171;31154438;31844290;31848261;31998317;32157095;32357974;32502341;32897882;33141586;33172895;33298915;33912179;33936100;33968037;34087483;34171305;34211107;35051231;35318648;35580925;36241641;9748265", "class_list": "", "function": "A Novel Neoplastic Fusion Transcript, RAD51AP1-DYRK4, Confers Sensitivity to the MEK Inhibitor Trametinib in Aggressive Breast Cancers., [RefSeq, PubMed]; DYRK4 isoforms resulting from alternative splicing differ in subcellular localization and catalytic activity, [RefSeq, PubMed]; Dyrk4 is a testis-specific kinase with a very restricted expression to stage VIII postmeiotic spermatids., [RefSeq, PubMed]; Possible non-essential role in spermiogenesis., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes an enzyme that belongs to a conserved family of serine/threonine protein kinases. Members of this dual specificity kinase family are thought to function in the regulation of cell differentiation and proliferation, survival, and in development. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8F7;Q8NEF2;Q92631", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0004712 protein serine/threonine/tyrosine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005856 cytoskeleton", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9NR20-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVF9-1", "uniprot_id": [ { "id": "EKI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVF9", "type": "external" } ], "mass": 44781.0, "length": 386, "protein_name": "Ethanolamine kinase 2", "gene_name": "ETNK2", "organism": "Human", "refseq_name": "ethanolamine kinase 2 isoform 2", "refseq_ac": [ { "id": "NP_001284689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284689", "type": "external" } ], "gene_names_uniprotkb": "ETNK2; EKI2; HMFT1716", "gene_names_refseq": "EKI2; ETNK2; HMFT1716", "protein_names_uniprotkb": "Ethanolamine kinase 2; 2.7.1.82; EKI 2; Ethanolamine kinase-like protein", "protein_names_refseq": "ethanolamine kinase 2 isoform 2; ethanolamine kinase-like protein", "tax_id": 9606, "disease": "heart conduction disease (Disease Ontology:DOID:10273); microcephaly (Disease Ontology:DOID:10907); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:55224); (R-HSA-1483213)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10191259;10893425;11044454;11237011;12216837;12221122;15175005;15221005;17132865;17478478;18583706;19915674;22241472;25645385;28218747;29242379;29557506;30315122;31530632;31844290;32502341;32938616;33531692;33592498;33968037;33981976;34932366;35051231;35580925;36010968;9083101", "class_list": "", "function": "Catalyzes the ATP-dependent phosphorylation of ethanolamine to phosphoethanolamine (By similarity). Highly specific for ethanolamine phosphorylation and does not exhibit choline kinase activity (By similarity)., [UniProtKB, UniProtKB]; Hepatic metastasis of gastric cancer is associated with enhanced expression of ethanolamine kinase 2 via the p53-Bcl-2 intrinsic apoptosis pathway., [RefSeq, PubMed]; The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z7K1;Q5SXX5;Q68CK3;Q96G05", "ec_number_list": [ { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004305 ethanolamine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006646 phosphatidylethanolamine biosynthetic process;GO:0008654 phospholipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9NVF9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P3W2-1", "uniprot_id": [ { "id": "DJC24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P3W2", "type": "external" } ], "mass": 17139.0, "length": 149, "protein_name": "DnaJ homolog subfamily C member 24", "gene_name": "DNAJC24", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 24", "refseq_ac": [ { "id": "NP_859057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_859057", "type": "external" } ], "gene_names_uniprotkb": "DNAJC24; DPH4; ZCSL3", "gene_names_refseq": "DNAJC24; DPH4; JJJ3; ZCSL3", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 24; CSL-type zinc finger-containing protein 3; Diphthamide biosynthesis protein 4", "protein_names_refseq": "1700030A21Rik; CSL-type zinc finger-containing protein 3; DPH4 homolog (JJJ3, S. cerevisiae); DPH4, JJJ3 homolog; DnaJ (Hsp40) homolog, subfamily C, member 24; diphthamide biosynthesis protein 4; dnaJ homolog subfamily C member 24; zinc finger, CSL domain containing 3; zinc finger, CSL-type containing 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:120526); (R-HSA-5358493)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11237011;1508200;15485916;16959974;18627462;20559380;22367199;22509046;23169644;23468660;23481700;23486472;23645155;23971743;24422557;24739148;25352115;28832583;28834231;30315122;31844290;32157095;32161166;3346227;33968037;35051231;38713100", "class_list": "", "function": "DNAJC24 acts directly with PCNA and promotes malignant progression of LUAD by activating phosphorylation of AKT., [RefSeq, PubMed]; Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008]., [RefSeq]; Immunotoxin resistance is associated with reversible CpG island methylation and silencing of DPH4 gene transcription, [RefSeq, PubMed]; Stimulates the ATPase activity of several Hsp70-type chaperones. This ability is enhanced by iron-binding. The iron-bound form is redox-active and can function as electron carrier. Plays a role in the diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta)., [UniProtKB, PubMed, PubMed]; We report here the solution structure and mechanism of novel iron-mediated functional roles of human Dph4, a type III J-protein playing a vital role in diphthamide biosynthesis and normal development., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0V0;B1ALC1;I6L9B4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0008198 ferrous iron binding;GO:0001671 ATPase activator activity", "go_cellular_component": "GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0006457 protein folding;GO:0032781 positive regulation of ATP-dependent activity;GO:0017183 protein histidyl modification to diphthamide", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q6P3W2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06889-1", "uniprot_id": [ { "id": "EGR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06889", "type": "external" } ], "mass": 42613.0, "length": 387, "protein_name": "Early growth response protein 3", "gene_name": "EGR3", "organism": "Human", "refseq_name": "early growth response protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001186809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186809", "type": "external" } ], "gene_names_uniprotkb": "EGR3; PILOT", "gene_names_refseq": "EGR-3; EGR3; PILOT", "protein_names_uniprotkb": "Early growth response protein 3; EGR-3; Zinc finger protein pilot", "protein_names_refseq": "early growth response protein 3 isoform 2; early growth response protein 3; zinc finger protein pilot", "tax_id": 9606, "disease": "", "pathway": " (hsa:1960); (R-HSA-9031628)", "pathway_count": 2, "publication_count": 142, "publication_id_list": "10203854;10381005;10611221;10611312;10656257;10734128;10826704;10872467;10882540;10984481;11018254;11027551;11237011;11280768;11331872;11343657;11567222;11755530;11840323;11909874;11956230;12399542;12511643;1377233;14522948;14597720;14969744;15102911;15161978;15449318;15542842;15620361;1570299;15733869;15836632;15880109;16034366;16136673;16187211;16221685;16260776;16287845;16339507;16407550;16484497;16574654;16732277;17088210;17088211;17088212;17632064;17898216;18056528;18088355;18160048;1833716;18456662;18524893;1861162;1906159;19061646;19116276;19193899;19194657;19926875;2017159;2040600;20506119;2052361;2072895;21057636;2109185;21326363;21486943;21621608;22053691;22065583;22302795;2237820;23481700;24060757;25248477;25569790;25748042;26018600;2676516;27041596;27128622;27220739;28076410;28275114;28286024;28832583;29242379;29559111;29671580;3127059;33141586;33912179;34087483;35051231;3672127;38748804;38970508;38973154;38992750;39197193;7551568;7592934;7595538;7608156;7624335;7777577;7823924;7857651;7871435;7876254;7923378;8090221;8090222;8248782;8413279;8443122;8483478;8576248;8583621;8668170;8756618;8846918;8918830;9032251;9084409;9343422;9390517;9418898;9622090;9722618;9770464;9774344;9808461;9822744;9858769", "class_list": "", "function": "EGR3 Inhibits Tumor Progression by Inducing Schwann Cell-Like Differentiation., [RefSeq, PubMed]; EGR3 reduces podocyte inflammatory damage in obesity related glomerulopathy by inhibiting the PRMT1/p-STAT3 pathway., [RefSeq, PubMed]; Early growth response factor 3 may regulate coronary atherosclerosis through the NF-kappaB signaling pathway and VEGF expression., [RefSeq, PubMed]; Egr3 is a mechanosensitive transcription factor gene required for cardiac valve morphogenesis., [RefSeq, PubMed]; HIV Tat binds Egr proteins and enhances Egr-dependent transactivation of the Fas ligand promoter, [RefSeq, PubMed]; Immunoinhibitory effects of hypoxia-driven reprogramming of EGR1[hi] and EGR3 positive B cells in the nasopharyngeal carcinoma microenvironment., [RefSeq, PubMed]; Probable transcription factor involved in muscle spindle development., [UniProtKB]; This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 8874, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K8U9;B4DHJ5;E7EW38;Q2M3W2", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0043066 negative regulation of apoptotic process;GO:0007517 muscle organ development;GO:0001938 positive regulation of endothelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "Q06889-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43379-1", "uniprot_id": [ { "id": "WDR62_HUMAN", "url": "https://www.uniprot.org/uniprot/O43379", "type": "external" } ], "mass": 165954.0, "length": 1518, "protein_name": "WD repeat-containing protein 62", "gene_name": "WDR62", "organism": "Human", "refseq_name": "WD repeat-containing protein 62 isoform 1", "refseq_ac": [ { "id": "NP_001077430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077430", "type": "external" } ], "gene_names_uniprotkb": "WDR62; C19orf14", "gene_names_refseq": "C19orf14; MCPH2; WDR62", "protein_names_uniprotkb": "WD repeat-containing protein 62", "protein_names_refseq": "WD repeat-containing protein 62 isoform 1; WD repeat-containing protein 62; microcephaly, primary autosomal recessive 2", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 2 with or without cortical malformations (Disease Ontology:DOID:0070293); autosomal recessive primary microcephaly (Disease Ontology:DOID:0070296); polymicrogyria (Disease Ontology:DOID:0080918); intellectual disability (Disease Ontology:DOID:1059); microcephaly (Disease Ontology:DOID:10907); high grade glioma (Disease Ontology:DOID:3070)", "pathway": " (hsa:284403)", "pathway_count": 1, "publication_count": 90, "publication_id_list": "11237011;15302935;16565220;17081983;18220336;18669648;18707149;19007248;19413330;19415658;19651622;19664994;19664995;19690332;19691289;19910486;20068231;20729831;20890278;20890279;21406692;21496009;23186163;23301498;23341463;23481700;24714562;25418920;25501809;25576301;25645385;25892735;26297806;26375851;26728094;26811146;26992070;27600516;27869121;28063628;28089251;28218747;28228285;28832583;28834231;28904123;28973348;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30379171;30410026;30429286;30566428;30833945;31217245;31530632;31844290;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33298915;33592498;33691108;33912179;33968037;34087483;34357683;34561969;34932366;35051231;35494241;35580925;35808830;36010968;38926176;39534244", "class_list": "", "function": "JNK and WDR62 may regulate the dynamic interplay between polysomes stress granule and processing bodies, thereby mediating mRNA fate after stress., [RefSeq, PubMed]; Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly. Publication Status: Online-Only, [RefSeq, PubMed]; Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20729831, PubMed:20890278). Plays a role in mother-centriole-dependent centriole duplication; the function also seems to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806)., [UniProtKB, PubMed, PubMed, PubMed]; This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]., [RefSeq]; WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 46, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q63HP9;Q659D7;Q8NBF7;Q96AD9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005813 centrosome;GO:0005814 centriole;GO:0034451 centriolar satellite", "go_biological_process": "GO:0021987 cerebral cortex development;GO:0045664 regulation of neuron differentiation;GO:0022008 neurogenesis;GO:0002052 positive regulation of neuroblast proliferation;GO:0046605 regulation of centrosome cycle", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "O43379-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A1KXE4-1", "uniprot_id": [ { "id": "F168B_HUMAN", "url": "https://www.uniprot.org/uniprot/A1KXE4", "type": "external" } ], "mass": 20324.0, "length": 195, "protein_name": "Myelin-associated neurite-outgrowth inhibitor", "gene_name": "FAM168B", "organism": "Human", "refseq_name": "myelin-associated neurite-outgrowth inhibitor", "refseq_ac": [ { "id": "NP_001009993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009993", "type": "external" } ], "gene_names_uniprotkb": "FAM168B; KIAA0280L; MANI", "gene_names_refseq": "FAM168B; MANI", "protein_names_uniprotkb": "Myelin-associated neurite-outgrowth inhibitor; Mani; p20", "protein_names_refseq": "myelin-associated neurite-outgrowth inhibitor; protein FAM168B", "tax_id": 9606, "disease": "", "pathway": " (hsa:130074)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "20068231;20716133;22771904;23186163;23481700;24715725;25418920;25892735;26154972;26992070;27862975;28228285;28649982;28832583;28904123;29242379;29314611;29331515;29393594;29508533;29557506;29632046;29769354;29786170;30429286;30779550;31154438;31217245;31844290;32157095;32161166;32265295;32387766;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33717175;33912179;33936100;33968037;34171305;34185709;34357683;34509645;35051231;35318648;35580925;36010968;36241641;37938771", "class_list": "", "function": "Inhibitor of neuronal axonal outgrowth. Acts as a negative regulator of CDC42 and STAT3 and a positive regulator of STMN2. Positive regulator of CDC27., [UniProtKB, UniProtKB]; Novel protein MANI (myelin-associated neurite-outgrowth inhibitor)localizes to neural membranes; findings describe the novel MANI-Cdc27-APC pathway as an important cascade that prevents neurons from extending axons, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q2TAZ6;Q6NZ40", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "A1KXE4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C875-1", "uniprot_id": [ { "id": "F228B_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C875", "type": "external" } ], "mass": 38070.0, "length": 324, "protein_name": "Protein FAM228B", "gene_name": "FAM228B", "organism": "Human", "refseq_name": "protein FAM228B isoform a", "refseq_ac": [ { "id": "NP_001139182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139182", "type": "external" } ], "gene_names_uniprotkb": "FAM228B", "gene_names_refseq": "FAM228B", "protein_names_uniprotkb": "Protein FAM228B", "protein_names_refseq": "UPF0638 protein B; protein FAM228B isoform a; protein FAM228B", "tax_id": 9606, "disease": "", "pathway": " (hsa:375190)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;27920218;31530632;31844290", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WZA1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0C875-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O96015-1", "uniprot_id": [ { "id": "DNAL4_HUMAN", "url": "https://www.uniprot.org/uniprot/O96015", "type": "external" } ], "mass": 12009.0, "length": 105, "protein_name": "Dynein axonemal light chain 4", "gene_name": "DNAL4", "organism": "Human", "refseq_name": "dynein axonemal light chain 4", "refseq_ac": [ { "id": "NP_005731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005731", "type": "external" } ], "gene_names_uniprotkb": "DNAL4", "gene_names_refseq": "DNAL4; MRMV3; PIG27", "protein_names_uniprotkb": "Dynein axonemal light chain 4", "protein_names_refseq": "dynein axonemal light chain 4; dynein light chain, outer arm 4; dynein, axonemal, light polypeptide 4; proliferation-inducing gene 27; proliferation-inducing protein 27", "tax_id": 9606, "disease": "mirror movements 3 (Disease Ontology:DOID:0070639); progressive myoclonus epilepsy 7 (Disease Ontology:DOID:0111447)", "pathway": " (hsa:10126); (R-HSA-177504)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "11157096;11237011;18477386;25098561;25645385;28904123;30429286;30833945;31217245;31844290;32161166;32502341;33936100;33968037;35580925;38314870", "class_list": "", "function": "Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity (By similarity)., [UniProtKB]; This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. [provided by RefSeq, Dec 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6FGB2;Q6FGD0", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005874 microtubule;GO:0005886 plasma membrane;GO:0005930 axoneme;GO:0030286 dynein complex", "go_biological_process": "GO:0007018 microtubule-based movement;GO:0007017 microtubule-based process", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "O96015-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P03951-1", "uniprot_id": [ { "id": "FA11_HUMAN", "url": "https://www.uniprot.org/uniprot/P03951", "type": "external" } ], "mass": 70109.0, "length": 625, "protein_name": "Coagulation factor XI", "gene_name": "F11", "organism": "Human", "refseq_name": "coagulation factor XI isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_000119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000119", "type": "external" } ], "gene_names_uniprotkb": "F11", "gene_names_refseq": "F11; FXI; PTA", "protein_names_uniprotkb": "Coagulation factor XI; 3.4.21.27; FXI; PTA; Plasma thromboplastin antecedent", "protein_names_refseq": "coagualtion factor XI; coagulation factor XI isoform 1 preproprotein; plasma thromboplastin antecedent", "tax_id": 9606, "disease": "thrombosis (Disease Ontology:DOID:0060903); factor XI deficiency (Disease Ontology:DOID:2229); Noonan syndrome (Disease Ontology:DOID:3490)", "pathway": " (hsa:2160); (R-HSA-9673221); (R-HSA-9769739); (R-HSA-9769743); (R-HSA-9935598)", "pathway_count": 5, "publication_count": 141, "publication_id_list": "10026158;10027710;10391209;10606881;11035113;11237011;11238108;11342438;11412111;11833835;11895778;12052963;12907439;12944405;14982929;15026311;15180874;1547342;15870541;15953011;16161994;1618828;16335952;16607084;16619025;17506785;17598008;17635713;18005151;18491316;18510371;1902833;19159218;19297154;1930190;19548906;1998667;20004170;2019570;20427285;2104832;2110473;21107324;21457405;2162822;21668437;21932952;21976677;21999818;22016685;22144186;22159456;22322133;22618708;2271516;22786881;22961984;23021219;23090970;23683607;2384594;24190977;24554904;2502206;2505252;25092234;25158988;2538457;25713144;25855704;2592373;26473492;2713493;2738071;2752109;2775660;2788012;2813350;2827746;2844223;29223926;29391424;29419409;29557506;29671580;29741879;29786170;3009023;3017409;3082357;30918026;31154438;31262782;3129422;3134349;31439947;31844290;33397811;35051231;3524673;35460690;35580925;3636155;36951953;37074911;3733688;3744129;37469515;37726033;3863104;38968817;39158072;588558;6323392;6334516;6438527;7499257;7669672;7727775;7756647;7888672;8144529;8148489;8338946;8427954;8463288;8626656;8639781;893417;9169594;9218519;9226169;9401068;9459334;9469622;9593722;9607108;9774404;9787168;9834200;9888880", "class_list": "", "function": "Coagulation factor XI regulates endothelial cell permeability and barrier function in vitro and in vivo., [RefSeq, PubMed]; Elevated plasma factor XI is associated with postthrombotic syndrome., [RefSeq, PubMed]; Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX., [UniProtKB, PubMed]; This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008]., [RefSeq]; To provide a complete database of mutations and polymorphisms associated with factor XI deficiency, all available data on hereditary factor XI deficiency from main biological and medical databases were collected Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 831, "biomarker_type": "", "glycan_count": 43, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "D3DP64;Q4W5C2;Q9Y495", "ec_number_list": [ { "id": "3.4.21.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.5", "type": "external" }, { "id": "3.4.21.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.22", "type": "external" }, { "id": "3.4.21.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.38", "type": "external" }, { "id": "3.4.21.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.27", "type": "external" }, { "id": "3.4.21.69", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.69", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008201 heparin binding;GO:0042802 identical protein binding;GO:0008236 serine-type peptidase activity;GO:0070009 serine-type aminopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007596 blood coagulation;GO:0031639 plasminogen activation;GO:0051919 positive regulation of fibrinolysis;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "P03951-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NL82-1", "uniprot_id": [ { "id": "CF144_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NL82", "type": "external" } ], "mass": 15996.0, "length": 134, "protein_name": "Cilia- and flagella-associated protein 144", "gene_name": "CFAP144", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 144", "refseq_ac": [ { "id": "NP_001094846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094846", "type": "external" } ], "gene_names_uniprotkb": "CFAP144; FAM183A", "gene_names_refseq": "CFAP144; FAM183A", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 144; Protein FAM183A", "protein_names_refseq": "cilia- and flagella-associated protein 144; family with sequence similarity 183 member A; hCG23177; protein FAM183A", "tax_id": 9606, "disease": "", "pathway": " (hsa:440585)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;30500859;36191189", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating., [UniProtKB, PubMed]; Whole exome sequencing revealed a nonsense variant (c.377G>A; p.W126*) in FAM183A, a novel candidate gene for autosomal recessive intellectual disability. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZBL8", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0036126 sperm flagellum;GO:0005879 axonemal microtubule;GO:0097546 ciliary base;GO:0160112 axonemal B tubule inner sheath;GO:0005856 cytoskeleton", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NL82-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXX0-1", "uniprot_id": [ { "id": "DYH7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXX0", "type": "external" } ], "mass": 461159.0, "length": 4024, "protein_name": "Dynein axonemal heavy chain 7", "gene_name": "DNAH7", "organism": "Human", "refseq_name": "dynein axonemal heavy chain 7", "refseq_ac": [ { "id": "NP_061720", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061720", "type": "external" } ], "gene_names_uniprotkb": "DNAH7; KIAA0944", "gene_names_refseq": "CILD50; DNAH7", "protein_names_uniprotkb": "Dynein axonemal heavy chain 7; Axonemal beta dynein heavy chain 7; Ciliary dynein heavy chain 7; Dynein heavy chain-like protein 2; hDHC2", "protein_names_refseq": "axonemal beta dynein heavy chain 7; axonemal dynein heavy chain 7; ciliary dynein heavy chain 7; dynein axonemal heavy chain 7; dynein heavy chain 7, axonemal; dynein heavy chain-like protein 2; dynein, axonemal, heavy polypeptide 7; hDHC2", "tax_id": 9606, "disease": "primary ciliary dyskinesia (Disease Ontology:DOID:9562); ciliary dyskinesia, primary, 50 (MONDO:MONDO:0957252)", "pathway": " (hsa:56171)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11175280;11237011;11877439;19413330;20068231;23481700;24190977;24715725;25576301;26768311;29557506;29786170;30429286;30573663;30779550;31844290;32357974;32387766;32502341;32938616;33592498;33968037;34019948;34476482;34509645;35051231;35543642;35580925;39056782;39894887;9373155", "class_list": "", "function": "Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure., [RefSeq, PubMed]; DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]., [RefSeq]; Force generating protein that plays an important role in respiratory cilia and sperm flagella beating (PubMed:34476482). Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity)., [UniProtKB, PubMed]; Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human., [RefSeq, PubMed]; Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7. Publication Status: Online-Only, [RefSeq, PubMed]; These studies identify DNAH7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 129, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B8ZZX8;O00433;O95492;Q4G152;Q53QX7;Q53S64;Q53T02;Q68CY5;Q8N1Z2;Q9UMS3;Q9Y2F3", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0005509 calcium ion binding;GO:0003777 microtubule motor activity;GO:0008569 minus-end-directed microtubule motor activity;GO:0051959 dynein light intermediate chain binding", "go_cellular_component": "GO:0097227 sperm annulus;GO:0005874 microtubule;GO:0005929 cilium;GO:0097225 sperm midpiece;GO:0005858 axonemal dynein complex", "go_biological_process": "GO:0060294 cilium movement involved in cell motility;GO:0003341 cilium movement;GO:0036159 inner dynein arm assembly;GO:0060285 cilium-dependent cell motility", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8WXX0-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94988-4", "uniprot_id": [ { "id": "FA13A_HUMAN", "url": "https://www.uniprot.org/uniprot/O94988", "type": "external" } ], "mass": 116932.0, "length": 1023, "protein_name": "Protein FAM13A", "gene_name": "FAM13A", "organism": "Human", "refseq_name": "protein FAM13A isoform b", "refseq_ac": [ { "id": "NP_001015045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015045", "type": "external" } ], "gene_names_uniprotkb": "FAM13A; FAM13A1; KIAA0914", "gene_names_refseq": "ARHGAP48; FAM13A1; FAM13A", "protein_names_uniprotkb": "Protein FAM13A", "protein_names_refseq": "FAM13A1_v2 protein; family with sequence similarity 13, member A1; protein FAM13A isoform b; protein FAM13A", "tax_id": 9606, "disease": "chronic obstructive pulmonary disease (Disease Ontology:DOID:3083)", "pathway": " (hsa:10144); (R-HSA-8980692); (R-HSA-9013149)", "pathway_count": 3, "publication_count": 295, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10873388;10873802;10958683;11007481;11058585;11085924;11149925;11207612;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11961559;12071859;12093360;12096337;12195014;12221077;12221096;12351724;12432077;12531887;12546821;12547822;12650940;12665586;12857875;12877655;12923183;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15234000;15302923;15302935;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15866170;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17077126;17145773;17196961;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18158243;18218625;18249095;18347018;18396277;18426980;18653540;18669648;18691976;18829452;18838382;19269969;19494238;19605563;19635168;19673492;19713215;19724895;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21454492;21542010;21565175;21613211;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22475431;22608513;22673745;22734669;22911862;22970203;22992742;23200924;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24859002;24933155;24960694;25024229;25211221;25428919;25645385;25704760;25721503;25795300;25862245;25880248;25892735;26129894;26371245;26529257;26887924;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27806292;27986909;28112683;28114311;28196833;28584191;28832583;29089502;29146911;29242379;29358323;29382922;29393594;29557506;30853411;31105010;31844290;31871319;32157095;32203420;32983136;33592498;33717175;33912179;33968037;34171305;35051231;35580925;36010968;36241641;36284347;37366807;37391706;37605846;37786320;38691660;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9305890;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9988689", "class_list": "", "function": "Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta-analysis., [RefSeq, PubMed]; FAM13A polymorphisms are associated with a specific susceptibility to clinical progression of oral cancer in alcohol drinkers. Publication Status: Online-Only, [RefSeq, PubMed]; FAM13A regulates cellular senescence marker p21 and mitochondrial reactive oxygen species production in airway epithelial cells., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Single Nucleotide Polymorphisms of FAM13A Gene in Chronic Obstructive Pulmonary Disease-A Case Control Study in Vietnam. Publication Status: Online-Only, [RefSeq, PubMed]; The FAM13A Long Isoform Regulates Cilia Movement and Coordination in Airway Mucociliary Transport., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DLC1;Q24JP0;Q5PR21;Q8NBA3", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 29.6, "record_id": "O94988-4", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15723-5", "uniprot_id": [ { "id": "ELF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15723", "type": "external" } ], "mass": 63967.0, "length": 593, "protein_name": "ETS-related transcription factor Elf-2", "gene_name": "ELF2", "organism": "Human", "refseq_name": "ETS-related transcription factor Elf-2 isoform 3", "refseq_ac": [ { "id": "NP_001263386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263386", "type": "external" } ], "gene_names_uniprotkb": "ELF2; NERF", "gene_names_refseq": "ELF2; EU32; NERF-1A; NERF-1B; NERF-1a; NERF-2; NERF; b", "protein_names_uniprotkb": "ETS-related transcription factor Elf-2; E74-like factor 2; New ETS-related factor", "protein_names_refseq": "E74-like factor 2 (ets domain transcription factor); ETS-related transcription factor Elf-2 isoform 3; ETS-related transcription factor Elf-2; ets family transcription factor ELF2C; new Ets-related factor", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); polycystic ovary syndrome (Disease Ontology:DOID:11612); hyperprolactinemia (Disease Ontology:DOID:12700); endometriosis (Disease Ontology:DOID:289); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1998); (R-HSA-8939245)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "10.1101/2023.09.13.557529;10207087;10455134;11967990;12447867;14970218;18669648;19690332;20068231;22424782;23186163;23301498;23481700;24129315;24714562;25218447;25576301;26728094;26992070;27600516;27920218;28228285;28446606;28728844;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29557506;29632046;29632131;29786170;30059200;30429286;30524438;30620550;31154438;31217245;31222486;31492838;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;33141586;33214551;33392160;33592498;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34561969;34846842;35051231;35132862;35138101;35193931;35239093;35254053;35289036;35513511;35580925;36010968;36215666;36241641;36284347;37248433;37340703;37541260;37938771;38665916;38838015;39302247;39531497;39534244;40307207;40596516;8756667", "class_list": "", "function": "Angiopoietin-1 regulates expression of NERF2 and its own receptor in hypoxic cells., [RefSeq, PubMed]; C-Myc-induced long noncoding RNA MIRE cooperates with hnRNPK to stabilize ELF2 mRNA and promotes clear cell renal cell carcinogenesis., [RefSeq, PubMed]; Circ_0028007 Aggravates the Malignancy of Nasopharyngeal Carcinoma by Regulating miR-656-3p/ELF2 Axis., [RefSeq, PubMed]; Isoform 1 transcriptionally activates the LYN and BLK promoters and acts synergistically with RUNX1 to transactivate the BLK promoter., [UniProtKB]; Isoform 2 may function in repression of RUNX1-mediated transactivation., [UniProtKB]; Mutations in eIF2B genes cause vanishing white matter disease due to translation defects., [RefSeq, PubMed]; Observational study of gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; PCAT7 contributed to the progression of nasopharyngeal carcinoma through regulating miR-134-5p/ELF2 signaling pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 29, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 29, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 29, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 5, "glyco_site_count": 30, "binding_glycan_count": 0, "secondary_ac_list": "E9PCX3;Q15724;Q15725;Q6P1K5", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q15723-5", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00451-1", "uniprot_id": [ { "id": "FA8_HUMAN", "url": "https://www.uniprot.org/uniprot/P00451", "type": "external" } ], "mass": 267009.0, "length": 2351, "protein_name": "Coagulation factor VIII", "gene_name": "F8", "organism": "Human", "refseq_name": "coagulation factor VIII isoform a preproprotein", "refseq_ac": [ { "id": "NP_000123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000123", "type": "external" } ], "gene_names_uniprotkb": "F8; F8C", "gene_names_refseq": "AHF; DXS1253E; F8B; F8C; F8; FVIII; HEMA; THPH13", "protein_names_uniprotkb": "Coagulation factor VIII; AHF; Antihemophilic factor; Procoagulant component", "protein_names_refseq": "antihemophilic factor; coagulation factor VIII A1 domain; coagulation factor VIII C2 domain; coagulation factor VIII isoform a preproprotein; coagulation factor VIII, procoagulant component; coagulation factor VIIIc; factor VIII F8B", "tax_id": 9606, "disease": "colon adenoma (Disease Ontology:DOID:0050912); stroke (Disease Ontology:DOID:0051061); von Willebrand's disease 2 (Disease Ontology:DOID:0060574); autosomal hemophilia A (Disease Ontology:DOID:0111823); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); diabetic angiopathy (Disease Ontology:DOID:11713); gestational diabetes (Disease Ontology:DOID:11714); factor VIII deficiency (Disease Ontology:DOID:12134); dilated cardiomyopathy (Disease Ontology:DOID:12930); severe pre-eclampsia (Disease Ontology:DOID:13129); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); familial hypercholesterolemia (Disease Ontology:DOID:13810); atherosclerosis (Disease Ontology:DOID:1936); hyperinsulinism (Disease Ontology:DOID:2018); gallbladder cancer (Disease Ontology:DOID:3121); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); systemic scleroderma (Disease Ontology:DOID:418); liver cirrhosis (Disease Ontology:DOID:5082); acute pyelonephritis (Disease Ontology:DOID:559); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); chronic kidney disease (Disease Ontology:DOID:784); hemarthrosis (Disease Ontology:DOID:801); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); hyperhomocysteinemia (Disease Ontology:DOID:9279); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); thrombophilia, X-linked, due to factor 8 defect (MONDO:MONDO:0859082)", "pathway": " (hsa:2157); (R-HSA-114608); (R-HSA-163841); (R-HSA-204005); (R-HSA-5694530); (R-HSA-9672383); (R-HSA-9672387); (R-HSA-9672391); (R-HSA-9672393); (R-HSA-9672395); (R-HSA-9672396); (R-HSA-9672397); (R-HSA-9673202); (R-HSA-9674519); (R-HSA-9769735); (R-HSA-9769739); (R-HSA-9769743)", "pathway_count": 17, "publication_count": 385, "publication_id_list": "10026158;10215414;10338101;10368977;10404764;10408784;10445031;10468875;10554831;10559958;10559959;10612839;10652252;10679020;10691849;10747087;10788476;10800171;10825291;10886198;10896236;10903204;10910910;10910913;10982397;11016445;11035026;11035113;11157485;11237011;11238108;11285137;11298607;11306556;11341489;11342438;11380445;11410838;11442643;11442647;11554935;11748850;11833835;11857744;11858487;11916079;11927603;12052963;12070132;12091341;12195713;12199686;12203998;12235121;12237308;12325022;12351418;12406074;12428094;12614369;1283342;12871415;12907439;12930394;12958606;12969981;1301194;1301932;1301960;1303178;1346975;1349567;1356412;1378653;1427887;1435334;14630798;14633848;14982929;14983240;15037235;15102834;15137908;15297306;15471879;1554716;15682412;1569180;15705787;15810915;15869596;16038719;16129679;16161994;1618828;16303754;16335952;1639429;16495487;16619025;16624868;16805874;16912714;17005010;17010120;17038314;17192411;1724391;17287728;17316621;17499046;17506785;17562788;17598006;17598008;17607000;17635713;17684057;18025080;18184865;18217133;18283111;18287528;1851341;18672380;1874730;18767875;18843296;1898735;1902121;1902642;1902833;1908096;1908817;19158273;19164740;19240027;1924291;19265014;19269366;19297154;1930190;19566487;1958666;19638414;19656848;1973901;19846852;20004170;2019570;2040636;20427285;20427317;20477988;20533886;20545907;20679433;20805473;20966969;2104766;2104832;2105106;2105717;2105906;2106480;2107542;2109644;2110473;21107324;2119526;2129392;21371196;21467215;21478858;21525241;21532587;21668738;21689688;21878990;21909383;21932952;21933172;22013193;22144186;22157747;22195972;2248955;22618708;22645359;22652793;22675024;2271516;22786881;22961984;23006890;23021219;2303434;23378591;23479643;23481380;23621622;23640497;23683607;23698585;2384594;23852824;23864707;24119662;24244658;24554904;2455712;24714562;24715725;2473538;24917561;2491949;2495245;24971579;2498882;2499363;2502206;2505252;25059662;2506948;2510835;25202031;25354705;2538457;25406594;25492864;25550078;25586378;25619252;25619253;25645385;25713144;25855704;26023895;26154972;26278069;26473492;26992070;2704749;271951;27862975;28327546;2833855;2835904;28904123;29025906;29170251;29223926;29242379;29357978;29391424;29419409;29437277;29437578;29444815;29444872;29557506;29786170;3012775;3017409;30410026;30429286;30459171;3052293;3082357;30918026;31003762;31217245;3122181;31262782;3129422;3134349;31439947;31556206;32157095;32166871;32350084;32357974;3275472;32938616;33275657;33298915;33912179;33968037;34529764;35051231;3524673;35251023;3527261;35580925;36389737;36936969;36951953;37074911;3733688;3744129;37720212;37726033;37925034;37962303;38317480;38320121;3863104;38631156;3935400;3965513;6323392;6334516;6438526;6438527;6438528;6457647;6980899;7499257;7579394;7613471;7682339;7727775;7728145;7756647;7759074;7775440;7794769;7803238;7893714;8051097;8052958;8144529;8148489;8221884;8281136;8307558;8315383;8322269;8338946;8449505;8467233;8567641;8578528;8598903;8620540;8626656;8639447;8639673;8639781;8644728;8663406;8759905;8810344;8836140;8969451;9029040;9094723;9145485;9150144;9177194;9218428;9218519;9307973;9326186;9341862;9395526;9427707;9450898;9452104;9459334;9469622;9472029;9501187;9569180;9569189;9603440;9607108;9647643;9774404;9792405;9829908;9834200;9864159;9886318;9888880", "class_list": "", "function": "A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels., [RefSeq, PubMed]; An intronic RNA element modulates Factor VIII exon-16 splicing., [RefSeq, PubMed]; Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa., [UniProtKB]; In-depth structure-function profiling of the complex formation between clotting factor VIII and heme., [RefSeq, PubMed]; Long-term safety and efficacy outcomes of valoctocogene roxaparvovec gene transfer up to 6 years post-treatment., [RefSeq, PubMed]; The role of proteolytic cleavage at Arg[336] and Arg[372] of the A1 domain in factor VIIa/tissue factor-catalyzed reactions of B domain-deleted factor VIII., [RefSeq, PubMed]; This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 16, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 16, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 18, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 18, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 11, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 98, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 63, "disease_count": 32, "glyco_site_count": 26, "binding_glycan_count": 0, "secondary_ac_list": "Q14286;Q5HY69", "ec_number_list": [], "go_molecular_function": "GO:0016491 oxidoreductase activity;GO:0005507 copper ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0007597 blood coagulation, intrinsic pathway;GO:0006953 acute-phase response;GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 47.0, "record_id": "P00451-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05DH4-1", "uniprot_id": [ { "id": "FHI1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05DH4", "type": "external" } ], "mass": 116621.0, "length": 1040, "protein_name": "FHF complex subunit HOOK-interacting protein 1A", "gene_name": "FHIP1A", "organism": "Human", "refseq_name": "FHF complex subunit HOOK-interacting protein 1A", "refseq_ac": [ { "id": "NP_001103447", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103447", "type": "external" } ], "gene_names_uniprotkb": "FHIP1A; FAM160A1", "gene_names_refseq": "FAM160A1; FHIP-L; FHIP1A", "protein_names_uniprotkb": "FHF complex subunit HOOK-interacting protein 1A; FHIP-L; FHIP1A; FTS- and Hook-interacting protein like", "protein_names_refseq": "FHF complex subunit HOOK-interacting protein 1A; FTS and Hook-interacting protein like; family with sequence similarity 160 member A1; protein FAM160A1", "tax_id": 9606, "disease": "", "pathway": " (hsa:729830)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;25576301;25892735;26992070;28228285;28832583;28834231;29557506;30420729;30484775;31844290;32073997;32387766;32938616;33141586;33968037;34087483;34509645;35051231;35580925;36010968;36241641", "class_list": "", "function": "Probable component of the FTS/Hook/FHIP complex (FHF complex) (PubMed:32073997). FHF complex promotes the distribution of AP-4 complex to the perinuclear area of the cell (PubMed:32073997)., [UniProtKB, PubMed]; This report implicates a novel recessive germline mutation in FAM160A1 with familial NKTL. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZUS2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0098840 protein transport along microtubule;GO:1905719 protein localization to perinuclear region of cytoplasm", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q05DH4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P45880-3", "uniprot_id": [ { "id": "VDAC2_HUMAN", "url": "https://www.uniprot.org/uniprot/P45880", "type": "external" } ], "mass": 31567.0, "length": 294, "protein_name": "Non-selective voltage-gated ion channel VDAC2", "gene_name": "VDAC2", "organism": "Human", "refseq_name": "non-selective voltage-gated ion channel VDAC2 isoform 1", "refseq_ac": [ { "id": "NP_001171712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171712", "type": "external" } ], "gene_names_uniprotkb": "VDAC2", "gene_names_refseq": "VDAC2", "protein_names_uniprotkb": "Non-selective voltage-gated ion channel VDAC2; Outer mitochondrial membrane protein porin 2; VDAC-2; hVDAC2", "protein_names_refseq": "epididymis secretory sperm binding protein; non-selective voltage-gated ion channel VDAC2 isoform 1; non-selective voltage-gated ion channel VDAC2; outer mitochondrial membrane protein porin 2", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); temporal lobe epilepsy (Disease Ontology:DOID:3328); myocardial infarction (Disease Ontology:DOID:5844); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:7417); (R-HSA-5205685); (R-HSA-5689880); (R-HSA-8949215)", "pathway_count": 4, "publication_count": 209, "publication_id_list": "10.1101/2023.09.13.557529;10444327;10501981;10982817;11566882;11923872;12438411;12917689;12917691;14661020;15053880;15904662;15916963;16214042;16901786;16964248;17081983;17178908;17290220;17443180;17873522;17980597;17981138;18088087;18172164;18467330;18578522;18628306;18632802;18636086;18669648;18691976;18767875;19015242;19135894;19188362;19363159;19398555;19413330;19424180;19432818;19608861;19651622;19664994;19691289;19797662;19838211;19874889;19910467;20018762;20068231;20096447;20126261;20228808;20368735;20501646;20693986;20712405;21115803;21194381;21239494;21362556;21571647;21596315;21617041;21659512;21685886;21685888;21720385;21849505;21962518;22029577;22085928;22128162;22216260;22645359;23159851;23301498;23395819;23409044;23486064;23716663;23755363;23824326;23825189;23900286;24056413;24120863;24162235;24231807;24260525;24344246;24366607;24493797;24503055;24560927;24660806;24714562;24751536;24784582;24896179;24898248;25077561;25171321;25197364;25305019;25418920;25474007;25502872;25527497;25548167;25565209;25578727;25621951;25645385;25753332;26116755;26154972;26365381;26976564;27035970;27099988;27247382;27452731;27641616;27655845;27669901;27726376;27846572;28218747;28510447;28514659;28832583;28904123;29242379;29351928;29393594;29394115;29493099;29508533;29557506;29789417;29995846;30315122;30397120;30779550;31015432;31020640;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31998317;32119511;32157095;32161166;32162841;32296703;32350084;32387766;32502341;32641986;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34433824;34561969;34725712;34931806;35051231;35083852;35154160;35251023;35289036;35561310;35580925;36215666;36241641;36445063;38065946;38287189;38665916;38881325;39534244;40080546;40596516;40914422;7399049;7539795;7578059;7685033;8420959", "class_list": "", "function": "Catalyzes the scrambling of phospholipids across the outer mitochondrial membrane; the mechanism is unrelated to channel activity and is capable of translocating both anionic and zwitterionic phospholipids., [UniProtKB, PubMed]; Non-selective voltage-gated ion channel that mediates the transport of anions and cations through the mitochondrion outer membrane and plasma membrane (PubMed:8420959). The channel adopts an open conformation at zero mV and a closed conformation at both positive and negative potentials (PubMed:8420959). There are two populations of channels; the main that functions in a lower open-state conductance with lower ion selectivity, that switch, in a voltage-dependent manner, from the open to a low-conducting 'closed' state and the other that has a normal ion selectivity in the typical high conductance, 'open' state (PubMed:8420959). Binds various lipids, including the sphingolipid ceramide, the phospholipid phosphatidylcholine, and the sterols cholesterol and oxysterol (PubMed:31015432). Binding of ceramide promotes the mitochondrial outer membrane permeabilization (MOMP) apoptotic pathway (PubMed:31015432). Associates with the translocase of the outer mitochondrial membrane (TOM) complex and PINK1 kinase at depolarized mitochondria, this interaction stabilizes PINK1 at the outer mitochondrial membrane and triggers downstream mitophagy by the recruitment of the E3 ubiquitin ligase PRKN (PubMed:40080546)., [UniProtKB, PubMed, PubMed, PubMed]; STING Suppresses Mitochondrial VDAC2 to Govern RCC Growth Independent of Innate Immunity., [RefSeq, PubMed]; TRIM8 promotes ovarian cancer proliferation and migration by targeting VDAC2 for ubiquitination and degradation., [RefSeq, PubMed]; This gene encodes a member of the voltage-dependent anion channel pore-forming family of proteins that are considered the main pathway for metabolite diffusion across the mitochondrial outer membrane. The encoded protein is also thought to be involved in the mitochondrial apoptotic pathway via regulation of BCL2-antagonist/killer 1 protein activity. Pseudogenes have been identified on chromosomes 1, 2, 12 and 21, and alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q5VWK1;Q5VWK3;Q6IB40;Q7L3J5;Q9BWK8;Q9Y5I6", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0008142 oxysterol binding;GO:0005524 ATP binding;GO:0015485 cholesterol binding;GO:0031210 phosphatidylcholine binding;GO:0005244 voltage-gated monoatomic ion channel activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0007339 binding of sperm to zona pellucida;GO:0045332 phospholipid translocation;GO:0006820 monoatomic anion transport;GO:0097345 mitochondrial outer membrane permeabilization;GO:1990542 mitochondrial transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 21.7, "record_id": "P45880-3", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UF47-1", "uniprot_id": [ { "id": "DNJ5B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UF47", "type": "external" } ], "mass": 22496.0, "length": 199, "protein_name": "DnaJ homolog subfamily C member 5B", "gene_name": "DNAJC5B", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 5B", "refseq_ac": [ { "id": "NP_149096", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149096", "type": "external" } ], "gene_names_uniprotkb": "DNAJC5B; CSPBETA", "gene_names_refseq": "CSP-beta; DNAJC5B", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 5B; CSP-beta; Cysteine-string protein isoform beta", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 5 beta; THE1B/DNAJC5B.1; beta cysteine string protein; beta-CSP; cysteine string protein beta; dnaJ homolog subfamily C member 5B; dnaJ homolog subfamily C member X; testicular tissue protein Li 55", "tax_id": 9606, "disease": "neuronal ceroid lipofuscinosis 4 (Disease Ontology:DOID:0110720); neuronal ceroid lipofuscinosis (Disease Ontology:DOID:14503)", "pathway": " (hsa:85479)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;17034881;24397554;26811146;28904123;29182667;29242379", "class_list": "", "function": "Suggest that HSPB8 may act as an intracellular factor against hepatitis C virus replication and that DNAJC5B has the same function, with more relevant results for genotype 3 Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest a possible correlation between the specific membrane targeting and the palmitoylation level of CSPs., [RefSeq, PubMed]; This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins that is characterized by an N-terminal DNAJ domain, a linker region, and a cysteine-rich C-terminal domain. The encoded protein, together with heat shock protein 70, is thought to regulate the proper folding of other proteins. The orthologous mouse protein is membrane-associated and is targeted to the trans-golgi network. [provided by RefSeq, Mar 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q969Y8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9UF47-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JB1-1", "uniprot_id": [ { "id": "DYH8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JB1", "type": "external" } ], "mass": 514664.0, "length": 4490, "protein_name": "Dynein axonemal heavy chain 8", "gene_name": "DNAH8", "organism": "Human", "refseq_name": "dynein axonemal heavy chain 8 isoform 1", "refseq_ac": [ { "id": "NP_001193856", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193856", "type": "external" } ], "gene_names_uniprotkb": "DNAH8", "gene_names_refseq": "ATPase; DNAH8; SPGF46; hdhc9", "protein_names_uniprotkb": "Dynein axonemal heavy chain 8; Axonemal beta dynein heavy chain 8; Ciliary dynein heavy chain 8", "protein_names_refseq": "axonemal beta dynein heavy chain 8; ciliary dynein heavy chain 8; dynein axonemal heavy chain 8 isoform 1; dynein heavy chain 8, axonemal; dynein, axonemal, heavy polypeptide 8", "tax_id": 9606, "disease": "episodic ataxia type 1 (Disease Ontology:DOID:0050989); spermatogenic failure 46 (Disease Ontology:DOID:0112164); sensorineural hearing loss (Disease Ontology:DOID:10003); pre-eclampsia (Disease Ontology:DOID:10591); gestational diabetes (Disease Ontology:DOID:11714); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:1769)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;12297094;16959974;18649358;18691976;23271734;23481700;24307375;25645385;26768311;29242379;29508533;29557506;29789417;30524438;31178125;32502341;32619401;32681648;32938616;32983136;33091337;33611675;33633747;33704367;34932366;35051231;35580925;36010968;36526552;38253038;9373155", "class_list": "", "function": "'Rotor free-wheeling' in impaired F1FO-ATPase induces congenital hypermetabolism., [RefSeq, PubMed]; A novel splicing variant in DNAH8 causes asthenozoospermia., [RefSeq, PubMed]; Force generating protein component of the outer dynein arms (ODAs) in the sperm flagellum (PubMed:32619401). Produces force towards the minus ends of microtubules (PubMed:32619401). Key component of dynein, a family of motor proteins essential for movement along microtubules (By similarity). Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (PubMed:32619401). Involved in sperm motility; implicated in sperm flagellar assembly (PubMed:32619401)., [UniProtKB, PubMed, UniProtKB]; Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella., [RefSeq, PubMed]; Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 154, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O00438;Q5JYI2;Q5T2M3;Q5T2M4;Q5TG00;Q9UEM4", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0003777 microtubule motor activity;GO:0008569 minus-end-directed microtubule motor activity;GO:0051959 dynein light intermediate chain binding;GO:0045505 dynein intermediate chain binding", "go_cellular_component": "GO:0005874 microtubule;GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0097228 sperm principal piece;GO:0097225 sperm midpiece", "go_biological_process": "GO:0060294 cilium movement involved in cell motility;GO:0036158 outer dynein arm assembly;GO:0060285 cilium-dependent cell motility;GO:0007018 microtubule-based movement", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q96JB1-1", "record_type": "protein", "filter_code": "0000000.1000111.000100.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06746-1", "uniprot_id": [ { "id": "DPOLB_HUMAN", "url": "https://www.uniprot.org/uniprot/P06746", "type": "external" } ], "mass": 38178.0, "length": 335, "protein_name": "DNA polymerase beta", "gene_name": "POLB", "organism": "Human", "refseq_name": "DNA polymerase beta", "refseq_ac": [ { "id": "NP_002681", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002681", "type": "external" } ], "gene_names_uniprotkb": "POLB", "gene_names_refseq": "POLB", "protein_names_uniprotkb": "DNA polymerase beta; 2.7.7.7; 4.2.99.-; 4.2.99.18; 5'-dRP lyase; 5'-deoxyribose-phosphate lyase; AP lyase", "protein_names_refseq": "5'-dRP lyase; 5'-deoxyribose-phosphate lyase; AP lyase; DNA pol beta; DNA polymerase beta subunit; DNA polymerase beta; polymerase (DNA directed), beta; polymerase (DNA) beta", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793); middle cerebral artery infarction (Disease Ontology:DOID:3525); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:5423); (R-HSA-110362); (R-HSA-110373); (R-HSA-110381); (R-HSA-5649702); (R-HSA-5651801); (R-HSA-5689880); (R-HSA-73930)", "pathway_count": 8, "publication_count": 175, "publication_id_list": "10364231;10444327;10460157;10556592;10559261;10648175;10744741;10959839;10982817;11163244;11237011;11250913;11340072;11440997;11554294;11566882;11601988;11687589;11698410;11805079;11904416;11923872;12097317;12200445;12517346;12727891;12917689;12917691;14661020;15053880;15075389;15135726;15193131;15260972;15561706;15607977;15731342;15916963;16172026;16214042;16278211;16313169;16464020;16600869;16609022;16901786;16964248;16982218;17118717;17131038;17290220;17443180;17526740;17548475;17873522;17980597;17981138;17991898;18039710;18172164;18467330;18616290;18632802;18636086;19015242;19135894;19188362;19223468;19329425;19336415;19363159;19398555;19424180;19713937;19778542;19838211;19874889;19910467;20096447;20228808;20368735;2040602;20501646;20573551;21183466;21239494;21362556;21398629;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;22341651;22433848;22650412;22651551;22952233;23159851;23395819;23486064;23824326;23825189;24056413;2423078;24260525;24493797;24668809;24896179;25197364;25260657;25305019;25578727;26090616;26527528;26760506;26992070;28228285;28904123;28945359;29493099;29557506;29786170;30315122;30524438;31217245;3182828;31844290;31999437;32157095;32387766;32488085;3284575;32897882;32938616;32983136;33392160;33592498;33691108;33717175;33968037;34019948;35051231;35580925;36982964;38135179;38245510;38673769;38780930;38785954;6278323;7578059;7705833;7914364;7915006;8003475;8264597;8663274;8841119;8841120;8978692;9207062;9214649;9287163;9556598;9572863;9614142;9649448;9685411;9780000;9804757", "class_list": "", "function": "DNA polymerase beta connects tumorigenicity with the circadian clock in liver cancer through the epigenetic demethylation of Per1. Publication Status: Online-Only, [RefSeq, PubMed]; DNA polymerase that functions in several pathways of DNA repair. Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA. Also contributes to DNA double-strand break repair by non-homologous end joining and homologous recombination. Has both template-dependent and template-independent (terminal transferase) DNA polymerase activities. Has also a 5'-deoxyribose-5-phosphate lyase (dRP lyase) activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Impact of polbeta/XRCC1 Interaction Variants on the Efficiency of Nick Sealing by DNA Ligase IIIalpha in the Base Excision Repair Pathway., [RefSeq, PubMed]; Modifying the Basicity of the dNTP Leaving Group Modulates Precatalytic Conformational Changes of DNA Polymerase beta., [RefSeq, PubMed]; Repair polymerase that plays a key role in base-excision repair (PubMed:10556592, PubMed:9207062, PubMed:9572863). During this process, the damaged base is excised by specific DNA glycosylases, the DNA backbone is nicked at the abasic site by an apurinic/apyrimidic (AP) endonuclease, and POLB removes 5'-deoxyribose-phosphate from the preincised AP site acting as a 5'-deoxyribose-phosphate lyase (5'-dRP lyase); through its DNA polymerase activity, it adds one nucleotide to the 3' end of the arising single-nucleotide gap (PubMed:10556592, PubMed:17526740, PubMed:8841119, PubMed:9556598, PubMed:9572863, PubMed:9614142). Conducts 'gap-filling' DNA synthesis in a stepwise distributive fashion rather than in a processive fashion as for other DNA polymerases. It is also able to cleave sugar-phosphate bonds 3' to an intact AP site, acting as an AP lyase (PubMed:9614142)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Repair polymerase that plays a key role in base-excision repair. During this process, the damaged base is excised by specific DNA glycosylases, the DNA backbone is nicked at the abasic site by an apurinic/apyrimidic (AP) endonuclease, and POLB removes 5'-deoxyribose-phosphate from the preincised AP site acting as a 5'-deoxyribose-phosphate lyase (5'-dRP lyase); through its DNA polymerase activity, it adds one nucleotide to the 3' end of the arising single-nucleotide gap. Conducts 'gap-filling' DNA synthesis in a stepwise distributive fashion rather than in a processive fashion as for other DNA polymerases. It is also able to cleave sugar-phosphate bonds 3' to an intact AP site, acting as an AP lyase., [UniProtKB, UniProtKB]; SNP-Associated Substitutions of Amino Acid Residues in the dNTP Selection Subdomain Decrease Polbeta Polymerase Activity. Publication Status: Online-Only, [RefSeq, PubMed]; The Impact of SNP-Induced Amino Acid Substitutions L19P and G66R in the dRP-Lyase Domain of Human DNA Polymerase beta on Enzyme Activities. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 27, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RC78;Q3KP48;Q6FI34", "ec_number_list": [ { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.7.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.31", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "3.1.26.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.4", "type": "external" }, { "id": "3.4.23.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.50", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.14.11.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.51", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.33", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.33", "type": "external" }, { "id": "3.2.1.143", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.143", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" } ], "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0051575 5'-deoxyribose-5-phosphate lyase activity;GO:0008017 microtubule binding;GO:0019899 enzyme binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0006287 base-excision repair, gap-filling;GO:0006281 DNA repair;GO:0010332 response to gamma radiation;GO:0045471 response to ethanol;GO:0006284 base-excision repair", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "P06746-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBA8-1", "uniprot_id": [ { "id": "DTWD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBA8", "type": "external" } ], "mass": 33416.0, "length": 298, "protein_name": "tRNA-uridine aminocarboxypropyltransferase 2", "gene_name": "DTWD2", "organism": "Human", "refseq_name": "tRNA-uridine aminocarboxypropyltransferase 2 isoform b", "refseq_ac": [ { "id": "NP_001295010", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295010", "type": "external" } ], "gene_names_uniprotkb": "DTWD2", "gene_names_refseq": "DTWD2", "protein_names_uniprotkb": "tRNA-uridine aminocarboxypropyltransferase 2; 2.5.1.25; DTW domain-containing protein 2", "protein_names_refseq": "DTW domain containing 2; DTW domain-containing protein 2; tRNA-uridine aminocarboxypropyltransferase 2 isoform b; tRNA-uridine aminocarboxypropyltransferase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:285605)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;19240061;23186163;23481700;23953852;26154972;26992070;27846572;28832583;28834231;28855257;29786170;31804502;31844290;32157095;32357974;32938616;33298915;33592498;33717175;33968037;34087483;35051231;35580925;36240223;36284347;39173631", "class_list": "", "function": "Catalyzes the formation of 3-(3-amino-3-carboxypropyl)uridine (acp3U) at position 20a in the D-loop of several cytoplasmic tRNAs (acp3U(20a)) (PubMed:31804502, PubMed:39173631). Also has a weak activity to form acp3U at position 20 in the D-loop of tRNAs (acp3U(20)) (PubMed:31804502). Involved in glycoRNA biosynthesis by mediating formation of acp3U, which acts as an attachment site for N-glycans on tRNAs (PubMed:39173631). GlycoRNAs consist of RNAs modified with secretory N-glycans that are presented on the cell surface (PubMed:39173631)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The rs17144687 near DTWD2 associated with MaxDirnks., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "J3KND6", "ec_number_list": [ { "id": "2.5.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.25", "type": "external" }, { "id": "2.7.7.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.1", "type": "external" }, { "id": "2.7.7.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.18", "type": "external" } ], "go_molecular_function": "GO:0016432 tRNA-uridine aminocarboxypropyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006400 tRNA modification;GO:0141217 glycoRNA biosynthetic process;GO:0008033 tRNA processing", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8NBA8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43909-1", "uniprot_id": [ { "id": "EXTL3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43909", "type": "external" } ], "mass": 104749.0, "length": 919, "protein_name": "Exostosin-like 3", "gene_name": "EXTL3", "organism": "Human", "refseq_name": "exostosin-like 3", "refseq_ac": [ { "id": "NP_001431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001431", "type": "external" } ], "gene_names_uniprotkb": "EXTL3; EXTL1L; EXTR1; KIAA0519", "gene_names_refseq": "BOTV; EXTL1L; EXTL3; EXTR1; ISDNA; REGR; RPR", "protein_names_uniprotkb": "Exostosin-like 3; 2.4.1.223; EXT-related protein 1; Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Hereditary multiple exostoses gene isolog; Multiple exostosis-like protein 3; Putative tumor suppressor protein EXTL3", "protein_names_refseq": "EXT-related 1; epididymis secretory sperm binding protein; exostoses (multiple)-like 3; exostosin tumor-like 3; exostosin-like 3; glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; hereditary multiple exostoses gene isolog; putative tumor suppressor protein EXTL3; reg receptor", "tax_id": 9606, "disease": "hereditary multiple exostoses (Disease Ontology:DOID:206); immunoskeletal dysplasia with neurodevelopmental abnormalities (MONDO:MONDO:0044312)", "pathway": " (hsa:2137); (R-HSA-2022928); (R-HSA-381038)", "pathway_count": 3, "publication_count": 97, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10318803;10601334;10639137;10644753;10677367;10716625;10827079;11087757;11169766;11237011;11274177;11279150;11390981;12138164;12204115;12492399;15082721;15466936;15607426;16343444;16461360;16539657;18664523;19158046;20554947;21282569;21700882;22727489;23481700;23584533;24190977;24715725;25813380;25892735;26992070;27830702;27846572;28132690;28148688;28218747;28228285;28397838;28467828;28832583;28834231;29242379;29314611;29346724;29393594;29557506;29632711;29769354;30315122;30459171;30471091;31154438;31611695;31844290;32157095;32161166;32350084;32387766;32502341;32938616;32983136;33159882;33592498;33717175;33968037;33981976;34099862;34171305;34357683;34405274;34509645;35051231;35251023;35289036;35676258;36181793;38665916;39231976;7590364;7601448;8666242;9037597;9346953;9450183;9463333;9473480;9479495;9535912;9915799;9988767", "class_list": "glycogene;glycosyltransferase", "function": "EXTL3 and NPC1 are mammalian host factors for Autographa californica multiple nucleopolyhedrovirus infection. Publication Status: Online-Only, [RefSeq, PubMed]; Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS) (PubMed:28132690, PubMed:28148688). Initiates HS synthesis by transferring the first N-acetyl-alpha-D-glucosamine (alpha-GlcNAc) residue (GlcNAcT-I activity) to the tetrasaccharide linker (GlcA-Gal-Gal-Xyl-)Ser core linker (PubMed:11390981, PubMed:35676258). May also transfer alpha-GlcNAc residues during HS elongation (GlcNAcT-II activity) (PubMed:11390981, PubMed:35676258). Lacks glucuronyl transferase II (GlcAT-II) activity (PubMed:11390981, PubMed:35676258). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs) (PubMed:11390981, PubMed:22727489, PubMed:28132690, PubMed:28148688, PubMed:35676258). Through the synthesis of HS, regulates postnatal pancreatic islet maturation and insulin secretion (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Initiates HS synthesis by transferring the first N-acetyl-alpha-D-glucosamine (alpha-GlcNAc) residue (GlcNAcT-I activity) to the tetrasaccharide linker (GlcA-Gal-Gal-Xyl-)Ser core linker. May also transfer alpha-GlcNAc residues during HS elongation (GlcNAcT-II activity). Lacks glucuronyl transferase II (GlcAT-II) activity. Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). Through the synthesis of HS, regulates postnatal pancreatic islet maturation and insulin secretion., [UniProtKB, UniProtKB, UniProtKB]; Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion., [RefSeq, PubMed]; Receptor for REG3A, REG3B and REG3G, induces the activation of downstream signaling pathways such as PI3K-AKT or RAS-RAF-MEK-ERK signaling pathway (PubMed:22727489, PubMed:27830702, PubMed:34099862). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation (PubMed:22727489). Required for the inhibition of skin inflammation mediated by REG3A through the activation of PI3K-AKT-STAT3 pathway (PubMed:27830702). Required for the function of REG3A and REG3G in glucose tolerance in pancreas (PubMed:19158046). Expressed in microglia, is activated by nociceptor-derived REG3G in response to endotoxins, leading to the inhibition of kynurenine pathway to prevent endotoxic death (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 5, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1011, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 2, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "D3DST8;O00225;Q53XT3", "ec_number_list": [ { "id": "2.4.1.223", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.223", "type": "external" } ], "go_molecular_function": "GO:0016500 protein-hormone receptor activity;GO:0000287 magnesium ion binding;GO:0016757 glycosyltransferase activity;GO:0001888 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity;GO:0008375 acetylglucosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0045617 negative regulation of keratinocyte differentiation;GO:0030307 positive regulation of cell growth;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0015012 heparan sulfate proteoglycan biosynthetic process;GO:0010838 positive regulation of keratinocyte proliferation", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "O43909-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100100000001.110.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NFA0-1", "uniprot_id": [ { "id": "S31F3_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NFA0", "type": "external" } ], "mass": 37613.0, "length": 338, "protein_name": "Protein SPATA31F3", "gene_name": "SPATA31F3", "organism": "Human", "refseq_name": "protein SPATA31F3 isoform a", "refseq_ac": [ { "id": "NP_001296355", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296355", "type": "external" } ], "gene_names_uniprotkb": "SPATA31F3; FAM205CP; FAM205C", "gene_names_refseq": "FAM205CP; FAM205C; SPATA31F3", "protein_names_uniprotkb": "Protein SPATA31F3; Protein FAM205C", "protein_names_refseq": "FAM205C pseudogene; family with sequence similarity 205 member C; family with sequence similarity 205, member C, pseudogene; protein FAM205CP; protein SPATA31F3 isoform a; protein SPATA31F3; putative family with sequence similarity 205, member C protein; transmembrane protein C9orf144B pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:100129969)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;35494241", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NFA0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51452-1", "uniprot_id": [ { "id": "DUS3_HUMAN", "url": "https://www.uniprot.org/uniprot/P51452", "type": "external" } ], "mass": 20478.0, "length": 185, "protein_name": "Dual specificity protein phosphatase 3", "gene_name": "DUSP3", "organism": "Human", "refseq_name": "dual specificity protein phosphatase 3", "refseq_ac": [ { "id": "NP_004081", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004081", "type": "external" } ], "gene_names_uniprotkb": "DUSP3; VHR", "gene_names_refseq": "DUSP3; VHR", "protein_names_uniprotkb": "Dual specificity protein phosphatase 3; 3.1.3.16; 3.1.3.48; Dual specificity protein phosphatase VHR; VHR; Vaccinia H1-related phosphatase", "protein_names_refseq": "dual specificity protein phosphatase 3; dual specificity protein phosphatase VHR; serine/threonine specific protein phosphatase; vaccinia H1-related phosphatase; vaccinia virus phosphatase VH1-related", "tax_id": 9606, "disease": "", "pathway": " (hsa:1845); (R-HSA-202670)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10.1101/2023.09.13.557529;10224087;11237011;11863439;12447358;1281549;17322878;17785772;18491316;19888758;20068231;23301498;24714562;26992070;27346674;27862975;27941812;28904123;29557506;30833945;31848261;32157095;32348128;32380926;32387766;32475380;32938616;32983136;33912179;33968037;34019948;34171305;34509645;35580925;35899430;38538536;8650541", "class_list": "", "function": "Allosteric Impact of the Variable Insert Loop in Vaccinia H1-Related (VHR) Phosphatase., [RefSeq, PubMed]; DUSP3 maintains genomic stability and cell proliferation by modulating NER pathway and cell cycle regulatory proteins., [RefSeq, PubMed]; DUSP3 modulates IRES-dependent translation of mRNAs through dephosphorylation of the HNRNPC protein in cells under genotoxic stimulus., [RefSeq, PubMed]; Dual specificity phosphatase able to dephosphorylate phosphotyrosine, phosphoserine and phosphothreonine residues, with a preference for phosphotyrosine as a substrate., [UniProtKB, UniProtKB]; Regulation of signal transducer and activator of transcription 3 activation by dual-specificity phosphatase 3., [RefSeq, PubMed]; Shows activity both for tyrosine-protein phosphate and serine-protein phosphate, but displays a strong preference toward phosphotyrosines (PubMed:10224087, PubMed:11863439). Specifically dephosphorylates and inactivates ERK1 and ERK2 (PubMed:10224087, PubMed:11863439)., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene maps in a region that contains the BRCA1 locus which confers susceptibility to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was negative, leading to the conclusion that this gene is not BRCA1. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of dual-specificity phosphatase 3 in melanocytic oncogenesis. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DX45;Q5U0J1;Q8IYJ9", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0008092 cytoskeletal protein binding;GO:0030971 receptor tyrosine kinase binding;GO:0008138 protein tyrosine/serine/threonine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001772 immunological synapse", "go_biological_process": "GO:0051893 regulation of focal adhesion assembly;GO:0016311 dephosphorylation;GO:0035335 peptidyl-tyrosine dephosphorylation;GO:0050922 negative regulation of chemotaxis;GO:0045931 positive regulation of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "P51452-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00321-1", "uniprot_id": [ { "id": "ETV2_HUMAN", "url": "https://www.uniprot.org/uniprot/O00321", "type": "external" } ], "mass": 36633.0, "length": 342, "protein_name": "ETS translocation variant 2", "gene_name": "ETV2", "organism": "Human", "refseq_name": "ETS translocation variant 2 isoform 1", "refseq_ac": [ { "id": "NP_055024", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055024", "type": "external" } ], "gene_names_uniprotkb": "ETV2; ER71; ETSRP71", "gene_names_refseq": "ER71; ETSRP71; ETV2", "protein_names_uniprotkb": "ETS translocation variant 2; Ets-related protein 71", "protein_names_refseq": "ETS translocation variant 2 isoform 1; ets variant gene 2; ets-related protein 71", "tax_id": 9606, "disease": "limb ischemia (Disease Ontology:DOID:0050852)", "pathway": " (hsa:2116)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;18270322;31844290;36195958;36927793;37330911;38503291;39075623", "class_list": "", "function": "BCL6B-dependent suppression of ETV2 hampers endothelial cell differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; Binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'., [UniProtKB, UniProtKB, UniProtKB]; ETV2 primes hematoendothelial gene enhancers prior to hematoendothelial fate commitment., [RefSeq, PubMed]; ETV2 promotes osteogenic differentiation of human dental pulp stem cells through the ERK/MAPK and PI3K-Akt signaling pathways. Publication Status: Online-Only, [RefSeq, PubMed]; ETV2/ER71, the key factor leading the paths to vascular regeneration and angiogenic reprogramming. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Identify human Etv2/ER71 and mouse ER71 proteins as functional orthologs of Etsrp, [RefSeq, PubMed]; SOX17/ETV2 improves the direct reprogramming of adult fibroblasts to endothelial cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NFN5;B3KUL0;B9EIN1;Q9UEA0", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "O00321-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20226-1", "uniprot_id": [ { "id": "TBP_HUMAN", "url": "https://www.uniprot.org/uniprot/P20226", "type": "external" } ], "mass": 37698.0, "length": 339, "protein_name": "TATA-box-binding protein", "gene_name": "TBP", "organism": "Human", "refseq_name": "TATA-box-binding protein isoform 2", "refseq_ac": [ { "id": "NP_001165556", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165556", "type": "external" } ], "gene_names_uniprotkb": "TBP; GTF2D1; TF2D; TFIID", "gene_names_refseq": "GTF2D1; GTF2D; HDL4; SCA17; TBP1; TBP; TFIID", "protein_names_uniprotkb": "TATA-box-binding protein; TATA sequence-binding protein; TATA-binding factor; TATA-box factor; Transcription initiation factor TFIID TBP subunit", "protein_names_refseq": "TATA sequence-binding protein; TATA-box binding protein N-terminal domain; TATA-box factor; TATA-box-binding protein isoform 2; transcription initiation factor TFIID TBP subunit", "tax_id": 9606, "disease": "sleep apnea (Disease Ontology:DOID:0050847); spinocerebellar ataxia 17 (Disease Ontology:DOID:0050967); late onset Parkinson's disease (Disease Ontology:DOID:0060892); Alzheimer's disease (Disease Ontology:DOID:10652); Huntington's disease (Disease Ontology:DOID:12858); neurodegenerative disease (Disease Ontology:DOID:1289); schizophrenia (Disease Ontology:DOID:5419); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:6908); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-427359); (R-HSA-427413); (R-HSA-5250924); (R-HSA-674695); (R-HSA-6804756); (R-HSA-6807505); (R-HSA-73762); (R-HSA-73772); (R-HSA-73776); (R-HSA-73779); (R-HSA-73863); (R-HSA-749476); (R-HSA-75953); (R-HSA-76042); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071); (R-HSA-9018519)", "pathway_count": 22, "publication_count": 363, "publication_id_list": "10022900;10024882;10082553;10196196;10197586;10199401;10391676;10421633;10435622;10471499;10484774;10500146;10500157;10567404;10570149;10604467;10619841;10673500;10673501;10710310;10723029;10828826;10873660;10884347;10913176;11005381;11010967;11034064;11056176;11103799;11136970;11165043;11237011;11239457;11250901;11313753;11345900;11410592;11419933;11433015;11438666;11447225;11448935;11452016;11461703;11463379;11486021;11511362;11546806;11551930;11564744;11581164;11682626;11739720;11740489;11780126;11784853;11856838;11859374;11884399;11939898;12064478;12217962;12381659;12393749;12393879;12414730;12498683;12574128;12612073;12621023;12646563;12676794;12702766;12851404;12914926;12959972;1310361;14610093;14631847;14675539;14701755;14702041;14969726;15001666;15053879;15276198;15280358;15282324;15343269;15345050;1535687;15469825;1547496;15489290;15514030;15558034;15719058;15866171;15970593;15986123;16009131;16046058;16087863;16113099;16239144;1630819;16308568;16322561;16514417;16603771;16901896;16980581;17013392;17108107;17277772;17318177;17349958;17355984;1739980;17463000;17495528;17510434;17570761;17591690;17637753;17666587;17690249;18079403;18187655;18219272;18256232;1829677;18322535;18358809;18476782;18485871;18490454;18533032;18762174;18805503;19001364;19020303;19098913;19106100;19121998;19274700;19295514;19321454;19383337;1939271;1946469;19667075;19718048;19838300;19965871;20219941;20220130;20457598;20498280;20570965;20682797;20959462;21106759;21151129;2125285;21317932;21445275;21559432;21573489;2181374;21835891;21878914;21934649;21940756;2194289;22056668;22137580;22231121;22252320;22265404;22441827;22492511;22545144;22704330;22805593;23000554;23145106;23166507;23172872;23192763;23303788;23403292;23435229;23485397;23555303;2363050;23667505;23676219;23723241;2374612;23897426;23906331;23932780;2404611;24097444;24145406;24167369;24270878;24371278;2449431;24715725;24735615;24854081;24874608;24885040;24901984;24952918;24973012;24997600;24998469;25296600;25365482;25418920;25433557;25542856;25576301;25633194;25645385;25663755;25674852;25675981;25728767;25802875;25916849;26056233;26153859;26204489;26375851;26462610;26479350;26638071;26811146;26992070;27007846;27062924;27193682;27418187;27418309;27846572;27886276;27920218;2805069;28063628;28218747;28539435;28832583;28904123;2919170;29242379;29393594;2944599;29632046;30315122;30429286;3045126;30619292;30779550;31154438;31844290;31866147;32157095;32161166;32387766;32488085;3281094;32897882;32938616;33141586;33298915;33717175;33795473;33912179;33968037;33981976;34019948;34185709;34509645;34561969;3498214;35580925;36241641;3677090;37386215;37716588;38973070;39125760;40596516;7151173;7491500;7559524;7568218;7597036;7601352;7608968;7660122;7660129;7660130;7715707;7801123;7891697;7935485;7937828;7982918;7995525;8121496;8146144;8156590;8195246;8197458;8253082;8330735;8339931;8370526;8392607;8407894;8419924;8423814;8465201;8490964;8504927;8628262;8643494;8668525;8757291;8876171;8946909;9003788;9009278;9153304;9171375;9188510;9201922;9234698;9256425;9312031;9338790;9353262;9388265;9405375;9407024;9418884;9450929;9489704;9582279;9611253;9671459;9705341;9731700;9748258;9832505;9836642;9925639", "class_list": "", "function": "A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder., [RefSeq, PubMed]; Hierarchical TAF1-dependent co-translational assembly of the basal transcription factor TFIID., [RefSeq, PubMed]; Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. The number of CAG repeats encoding the polyglutamine tract is usually 25-42, and expansion of the number of repeats to 45-66 increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]., [RefSeq]; Taf1 N-terminal domain 2 (TAND2) of TFIID promotes formation of stable and mobile unstable TBP-TATA complexes., [RefSeq, PubMed]; The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a Mutable Unit in the TBP Gene Causative for Spino-Cerebellar Ataxia Type 17. Publication Status: Online-Only, [RefSeq, PubMed]; The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:2194289, PubMed:2363050, PubMed:2374612, PubMed:27193682, PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:27007846, PubMed:33795473). The TFIID complex structure can be divided into 3 modules TFIID-A, TFIID-B, and TFIID-C (PubMed:33795473). TBP forms the TFIID-A module together with TAF3 and TAF5 (PubMed:33795473). TBP is a general transcription factor that functions at the core of the TFIID complex (PubMed:2194289, PubMed:2363050, PubMed:2374612, PubMed:27193682, PubMed:33795473, PubMed:9836642). During assembly of the core PIC on the promoter, as part of TFIID, TBP binds to and also bends promoter DNA, irrespective of whether the promoter contains a TATA box (PubMed:33795473). Component of a BRF2-containing transcription factor complex that regulates transcription mediated by RNA polymerase III (PubMed:26638071). Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC during RNA polymerase I-dependent transcription (PubMed:15970593). The rate of PIC formation probably is primarily dependent on the rate of association of SL1 with the rDNA promoter (PubMed:15970593). SL1 is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA (PubMed:15970593)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4E3B3;F5H869;Q16845;Q6IBM6;Q9UC02", "ec_number_list": [], "go_molecular_function": "GO:0001093 TFIIB-class transcription factor binding;GO:0019899 enzyme binding;GO:0017162 aryl hydrocarbon receptor binding;GO:0000976 transcription cis-regulatory region binding;GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding", "go_cellular_component": "GO:0005668 RNA polymerase transcription factor SL1 complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0001939 female pronucleus", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0045945 positive regulation of transcription by RNA polymerase III", "synthesized_glycan_count": 0, "hit_score": 36.6, "record_id": "P20226-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A84-1", "uniprot_id": [ { "id": "EMID1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A84", "type": "external" } ], "mass": 45292.0, "length": 441, "protein_name": "EMI domain-containing protein 1", "gene_name": "EMID1", "organism": "Human", "refseq_name": "EMI domain-containing protein 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001254824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254824", "type": "external" } ], "gene_names_uniprotkb": "EMID1; EMU1", "gene_names_refseq": "EMI5; EMID1; EMU1", "protein_names_uniprotkb": "EMI domain-containing protein 1; Emilin and multimerin domain-containing protein 1; Emu1", "protein_names_refseq": "EMI domain-containing protein 1 isoform 2 precursor; EMI domain-containing protein 1; emilin and multimerin domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:129080); (R-HSA-5173105)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12221002;18477386;19913121;20628086;24714562;27920218;28218747;28832583;28912033;29437277;29557506;29632046;30315122;31611695;31844290;32350084;33392160;33717175;38237698;39775168", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 0, "predicted_o_glycosites": 7, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B0QYK6;Q6ICG1;Q86SS7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0031012 extracellular matrix;GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q96A84-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92782-2", "uniprot_id": [ { "id": "DPF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92782", "type": "external" } ], "mass": 44128.0, "length": 387, "protein_name": "Zinc finger protein neuro-d4", "gene_name": "DPF1", "organism": "Human", "refseq_name": "zinc finger protein neuro-d4 isoform c", "refseq_ac": [ { "id": "NP_001128628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128628", "type": "external" } ], "gene_names_uniprotkb": "DPF1; BAF45B; NEUD4", "gene_names_refseq": "BAF45b; DPF1; NEUD4; SMARCG1; neuro-d4", "protein_names_uniprotkb": "Zinc finger protein neuro-d4; BAF45B; BRG1-associated factor 45B; D4, zinc and double PHD fingers family 1", "protein_names_refseq": "BRG1-associated factor 45B; D4, zinc and double PHD fingers family 1; neuro-d4 homolog; zinc finger protein neuro-d4 isoform c; zinc finger protein neuro-d4", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:8193); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9933937); (R-HSA-9934037)", "pathway_count": 5, "publication_count": 42, "publication_id_list": "10587587;11532965;11856727;11964381;12062444;12368262;1321344;1537333;1537334;15543135;15695812;15729346;16303920;17182843;17640523;17952075;18483556;18697795;18765789;18812475;19389701;19717472;22952240;23644491;23785148;24267888;25755297;26601204;26694611;28533407;29393594;30379171;30515787;33100333;34696437;35580127;38359823;7813420;8306979;8812431;8921401;9758418", "class_list": "", "function": "BAF45b Is Required for Efficient Zika Virus Infection of HAP1 Cells. Publication Status: Online-Only, [RefSeq, PubMed]; May have an important role in developing neurons by participating in regulation of cell survival, possibly as a neurospecific transcription factor. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KSY8;Q08AJ0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003712 transcription coregulator activity;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0071565 nBAF complex;GO:0000785 chromatin", "go_biological_process": "GO:2000819 regulation of nucleotide-excision repair;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q92782-2", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29144-1", "uniprot_id": [ { "id": "TPP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P29144", "type": "external" } ], "mass": 138350.0, "length": 1249, "protein_name": "Tripeptidyl-peptidase 2", "gene_name": "TPP2", "organism": "Human", "refseq_name": "tripeptidyl-peptidase 2 isoform 1", "refseq_ac": [ { "id": "NP_003282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003282", "type": "external" } ], "gene_names_uniprotkb": "TPP2", "gene_names_refseq": "IMD78; TPP-2; TPP-II; TPP2; TPPII", "protein_names_uniprotkb": "Tripeptidyl-peptidase 2; 3.4.14.10; TPP-2; TPP-II; Tripeptidyl aminopeptidase; Tripeptidyl-peptidase II", "protein_names_refseq": "tripeptidyl aminopeptidase; tripeptidyl-peptidase 2 isoform 1; tripeptidyl-peptidase II", "tax_id": 9606, "disease": "primary immunodeficiency disease (Disease Ontology:DOID:612); immunodeficiency 78 with autoimmunity and developmental delay (MONDO:MONDO:0030971)", "pathway": " (hsa:7174); (R-HSA-983168)", "pathway_count": 2, "publication_count": 111, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;15716107;16595681;1670990;16849449;1691635;16954532;17343995;1840501;18662542;18991276;19028597;19352404;19452197;19489725;19608861;19747897;19851334;19874575;19940261;20068231;22424782;2261476;23301498;23481700;24275569;24715725;25418920;25502872;25525876;25576301;25645385;26154972;26375851;26768311;26992070;27600516;27862975;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30429286;30533531;31020640;31217245;31844290;32157095;32162841;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;3313395;33141586;33298915;33392160;33537174;33586135;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34932366;35008409;35051231;35154160;35251023;35466366;35580925;36010968;36215666;36241641;38253038;38665916;40914422;9380723;9668046", "class_list": "", "function": "Cytosolic tripeptidyl-peptidase that releases N-terminal tripeptides from polypeptides and is a component of the proteolytic cascade acting downstream of the 26S proteasome in the ubiquitin-proteasome pathway (PubMed:25525876, PubMed:30533531). It plays an important role in intracellular amino acid homeostasis (PubMed:25525876). Stimulates adipogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene., [RefSeq, PubMed]; TPP2 plays a specialized role in antigen processing and one that is not essential for the generation of most presented peptides., [RefSeq, PubMed]; The promoter could be localized to a 215 bp fragment upstream of the initiation codon., [RefSeq, PubMed]; This gene encodes a mammalian peptidase that, at neutral pH, removes tripeptides from the N terminus of longer peptides. The protein has a specialized function that is essential for some MHC class I antigen presentation. The protein is a high molecular mass serine exopeptidase; the amino acid sequence surrounding the serine residue at the active site is similar to the peptidases of the subtilisin class rather than the trypsin class. [provided by RefSeq, Jul 2008]., [RefSeq]; This investigation reveals that TPP II expression could be regulated through both positive and negative regulatory elements., [RefSeq, PubMed]; Unveiling a novel serpinB2-tripeptidyl peptidase II signaling axis during senescence., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5VZU8", "ec_number_list": [ { "id": "3.4.14.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.10", "type": "external" }, { "id": "3.4.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.-", "type": "external" }, { "id": "3.4.11.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.14", "type": "external" }, { "id": "3.4.22.40", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.40", "type": "external" }, { "id": "3.4.11.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.3", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0042802 identical protein binding;GO:0008240 tripeptidyl-peptidase activity;GO:0004177 aminopeptidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016604 nuclear body", "go_biological_process": "GO:0006508 proteolysis;GO:0000209 protein polyubiquitination;GO:0080144 intracellular amino acid homeostasis", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "P29144-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4GXA9-1", "uniprot_id": [ { "id": "EME2_HUMAN", "url": "https://www.uniprot.org/uniprot/A4GXA9", "type": "external" } ], "mass": 41178.0, "length": 379, "protein_name": "Structure-specific endonuclease subunit EME2", "gene_name": "EME2", "organism": "Human", "refseq_name": "structure-specific endonuclease subunit EME2", "refseq_ac": [ { "id": "NP_001244299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299", "type": "external" } ], "gene_names_uniprotkb": "EME2", "gene_names_refseq": "EME2; SLX2B; gs125", "protein_names_uniprotkb": "Structure-specific endonuclease subunit EME2; Essential meiotic structure-specific endonuclease subunit 2", "protein_names_refseq": "SLX2 structure-specific endonuclease subunit homolog B; essential meiotic endonuclease 1 homolog 2; homolog of yeast EME1 endonuclease 2; probable crossover junction endonuclease EME2; structure-specific endonuclease subunit EME2", "tax_id": 9606, "disease": "", "pathway": " (hsa:197342); (R-HSA-5693568); (R-HSA-6783310)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "11237011;11239454;12686547;12721304;14527420;15572677;16916645;16943440;17289582;17412408;17460694;17938197;18082604;18174376;18931676;19111657;19561358;19589784;19596236;19995904;20102227;20347428;20347429;20385554;20603015;20603016;20603073;20670894;20671156;20965415;21464321;21701511;21764741;22258451;22287633;22396592;22510687;22645308;22692201;23325218;23509288;23698467;23723247;23754376;24076221;24371268;24389026;24509834;24623813;24692662;24726325;24813886;24831703;24905007;25430771;25500724;26804904;27600516;28832583;28855257;29242379;29393594;29557506;29608566;31844290;32157095;32488085;33298915;34171305;35290797;36241641", "class_list": "", "function": "Avoiding damage formation through invalidation of Mus81-Eme2 and Mre11, or preventing damage signaling by turning off the ATM pathway, suppresses the replication phenotypes of Chk1-deficient cells., [RefSeq, PubMed]; Crystal structure of the human MUS81-EME2 complex., [RefSeq, PubMed]; EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]., [RefSeq]; Non-catalytic subunit of the structure-specific, heterodimeric DNA endonuclease MUS81-EME2 which is involved in the maintenance of genome stability. In the complex, EME2 is required for DNA cleavage, participating in DNA recognition and bending (PubMed:17289582, PubMed:24371268, PubMed:24813886, PubMed:35290797). MUS81-EME2 cleaves 3'-flaps and nicked Holliday junctions, and exhibit limited endonuclease activity with 5' flaps and nicked double-stranded DNAs (PubMed:24371268). MUS81-EME2 which is active during the replication of DNA is more specifically involved in replication fork processing (PubMed:17289582, PubMed:24813886). Replication forks frequently encounter obstacles to their passage, including DNA base lesions, DNA interstrand cross-links, difficult-to-replicate sequences, transcription bubbles, or tightly bound proteins. One mechanism for the restart of a stalled replication fork involves nucleolytic cleavage mediated by the MUS81-EME2 endonuclease. By acting upon the stalled fork, MUS81-EME2 generates a DNA double-strand break (DSB) that can be repaired by homologous recombination, leading to the restoration of an active fork (PubMed:24813886). MUS81-EME2 could also function in telomere maintenance (PubMed:24813886)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Results define distinct and temporal roles for MUS81-EME1 and MUS81-EME2 in the maintenance of genome stability., [RefSeq, PubMed]; The presence of a 5' phosphate terminus at nicks and gaps rendered DNA significantly less susceptible to the cleavage by MUS81-EME2 than its absence., [RefSeq, PubMed]; The results indicate that MUS81-EME2 is a more active endonuclease than MUS81-EME1 and exhibits broader substrate specificity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8TEP2;Q96RY3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0140767 enzyme-substrate adaptor activity", "go_cellular_component": "GO:0043596 nuclear replication fork;GO:0048476 Holliday junction resolvase complex;GO:0000781 chromosome, telomeric region;GO:1905347 endodeoxyribonuclease complex;GO:0005634 nucleus", "go_biological_process": "GO:0000712 resolution of meiotic recombination intermediates;GO:0000723 telomere maintenance;GO:0006302 double-strand break repair;GO:0031573 mitotic intra-S DNA damage checkpoint signaling;GO:0031297 replication fork processing", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "A4GXA9-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92630-1", "uniprot_id": [ { "id": "DYRK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92630", "type": "external" } ], "mass": 66652.0, "length": 601, "protein_name": "Dual specificity tyrosine-phosphorylation-regulated kinase 2", "gene_name": "DYRK2", "organism": "Human", "refseq_name": "dual specificity tyrosine-phosphorylation-regulated kinase 2 isoform 1", "refseq_ac": [ { "id": "NP_003574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003574", "type": "external" } ], "gene_names_uniprotkb": "DYRK2", "gene_names_refseq": "DYRK2", "protein_names_uniprotkb": "Dual specificity tyrosine-phosphorylation-regulated kinase 2; 2.7.12.1", "protein_names_refseq": "dual specificity tyrosine-(Y)-phosphorylation regulated kinase 2; dual specificity tyrosine-phosphorylation-regulated kinase 2 isoform 1", "tax_id": 9606, "disease": "Down syndrome (Disease Ontology:DOID:14250)", "pathway": " (hsa:8445); (R-HSA-6804756)", "pathway_count": 2, "publication_count": 108, "publication_id_list": "10435622;10500146;10570149;10604467;10673500;10673501;10710310;10884347;11237011;11239457;11311121;11447225;11511362;11546806;11551930;11740489;11780126;12064478;12393879;12588975;12702766;12851404;12874018;12914926;14593110;14623875;14702041;15053879;15866171;15910284;16322561;16497976;16511445;16611631;17108107;17344846;17349958;17591690;18083107;18455992;18490454;18491313;18539531;18599021;18669648;19121998;19287380;19413330;19664994;19664995;19796173;19965871;20836251;20959462;21317932;22307329;22564745;22878263;22998443;23000554;23186163;23362280;23485397;23665168;23676219;24145406;24715725;24874608;25418920;26992070;27846572;27920218;28218747;28832583;29242379;29393594;29437277;29493099;29557506;30315122;30429286;30779550;31092671;31154438;31217245;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32678104;32938616;33592498;33912179;34185709;34357683;35051231;35580925;36010968;36622366;36934104;37938771;38508285;38968120;9748265;9925639", "class_list": "", "function": "DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5' terminal insert. [provided by RefSeq, Jul 2008]., [RefSeq]; Dual inhibition of HSF1 and DYRK2 impedes cancer progression., [RefSeq, PubMed]; Dual-specificity tyrosine-regulated kinase 2 exerts anti-tumor effects by induction of G1 arrest in lung adenocarcinoma., [RefSeq, PubMed]; FBXW7 tumor suppressor regulation by dualspecificity tyrosine-regulated kinase 2. Publication Status: Online-Only, [RefSeq, PubMed]; Positive regulation of Hedgehog signaling via phosphorylation of GLI2/GLI3 by DYRK2 kinase., [RefSeq, PubMed]; Serine/threonine-protein kinase involved in the regulation of the mitotic cell cycle, cell proliferation, apoptosis, organization of the cytoskeleton and neurite outgrowth (PubMed:11311121, PubMed:12588975, PubMed:16511445, PubMed:16611631, PubMed:17349958, PubMed:18599021, PubMed:22307329, PubMed:9748265). Phosphorylates CRMP2/DPYSL2, CRMP4/DPYSL3, DCX, EIF2B5, EIF4EBP1, GLI2, GLI3, GYS1, JUN, MDM2, MYC, NFATC1, p53/TP53, TAU/MAPT and KATNA1 (PubMed:11311121, PubMed:12588975, PubMed:16511445, PubMed:16611631, PubMed:17349958, PubMed:18599021, PubMed:22307329, PubMed:38968120). Can phosphorylate histone H1, histone H3 and histone H2B (in vitro) (PubMed:9748265). Can phosphorylate CARHSP1 (in vitro) (PubMed:15910284). Functions in part via its role in ubiquitin-dependent proteasomal protein degradation (PubMed:9748265). Functions downstream of ATM and phosphorylates p53/TP53 at 'Ser-46', and thereby contributes to the induction of apoptosis in response to DNA damage (PubMed:17349958, PubMed:18599021). Phosphorylates NFATC1, and thereby inhibits its accumulation in the nucleus and its transcription factor activity (PubMed:16511445). May play a general role in the priming of GSK3 substrates (PubMed:11311121, PubMed:16611631). Phosphorylates EIF2B5 at 'Ser-544', enabling its subsequent phosphorylation and inhibition by GSK3B (PubMed:11311121). Likewise, phosphorylation of NFATC1, CRMP2/DPYSL2 and CRMP4/DPYSL3 promotes their subsequent phosphorylation by GSK3B (PubMed:16611631). Inactivates GYS1 by phosphorylation at 'Ser-641', and potentially also a second phosphorylation site, thus regulating glycogen synthesis (PubMed:14593110). Mediates EDVP E3 ligase complex formation and is required for the phosphorylation and subsequent degradation of KATNA1 (PubMed:19287380). Phosphorylates TERT at 'Ser-457', promoting TERT ubiquitination by the EDVP complex (PubMed:23362280). Phosphorylates SIAH2, and thereby increases its ubiquitin ligase activity (PubMed:22878263). Promotes the proteasomal degradation of MYC and JUN, and thereby regulates progress through the mitotic cell cycle and cell proliferation (PubMed:22307329). Acts as a positive regulator of smoothened signaling by mediating phosphorylation of GLI2 and GLI3 in response to smoothened activation, promoting their dissociation from SUFU inhibitor and translocation to the nucleus (PubMed:38968120). Can also acts as a negative regulator of smoothened by catalyzing phosphorylation of GLI2 and GLI3 and promote their proteasomal degradation (PubMed:18455992). Plays a role in cytoskeleton organization and neurite outgrowth via its phosphorylation of DCX and DPYSL2 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; These findings indicate that DYRK2 regulates p53 to induce apoptosis in response to DNA damage., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9V9;Q9BRB5", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0030145 manganese ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0006468 protein phosphorylation;GO:1901796 regulation of signal transduction by p53 class mediator;GO:0006974 DNA damage response;GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;GO:0070885 negative regulation of calcineurin-NFAT signaling cascade", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q92630-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4G0W2-1", "uniprot_id": [ { "id": "DUS28_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4G0W2", "type": "external" } ], "mass": 18324.0, "length": 176, "protein_name": "Dual specificity phosphatase 28", "gene_name": "DUSP28", "organism": "Human", "refseq_name": "dual specificity phosphatase 28", "refseq_ac": [ { "id": "NP_001028747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028747", "type": "external" } ], "gene_names_uniprotkb": "DUSP28", "gene_names_refseq": "DUSP26; DUSP28; VHP", "protein_names_uniprotkb": "Dual specificity phosphatase 28; 3.1.3.16; 3.1.3.48", "protein_names_refseq": "dual specificity phosphatase 28", "tax_id": 9606, "disease": "chromosome 17q12 deletion syndrome (Disease Ontology:DOID:0060404)", "pathway": " (hsa:285193)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;24531476;25230705;26212664;27230679;28986588;29121083;30902562;32938616;35051231;36520087", "class_list": "", "function": "Collectively, these results indicate that DUSP28 plays a key role in drug resistance and migratory activity in human pancreatic cells, and suggest that targeting DUSP28 might have clinical relevance in eradicating malignant pancreatic cancers. Publication Status: Online-Only, [RefSeq, PubMed]; DUSP28 promotes cell proliferation, migration, and invasion by Akt/beta-catenin/Slug axis in breast cancer., [RefSeq, PubMed]; DUSP28 significantly increased the migration, invasion, and viability of metastatic pancreatic cancer cells through the activation of CREB, AKT, and ERK1/2 signaling pathways. Erratum:[Cancer Lett. 2024 Feb 28;583:216454. doi: 10.1016/j.canlet.2023.216454. PMID: 38044256], [RefSeq, PubMed]; Has phosphatase activity with the synthetic substrate 6,8-difluoro-4-methylumbelliferyl phosphate (in vitro) (PubMed:24531476, PubMed:29121083). Has almost no detectable activity with phosphotyrosine, even less activity with phosphothreonine and displays complete lack of activity with phosphoserine (PubMed:29121083). The poor activity with phosphotyrosine may be due to steric hindrance by bulky amino acid sidechains that obstruct access to the active site (PubMed:29121083)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Results collectively indicate unique links between dual-specificity phosphatase 28 (DUSP28) and mucins MUC5B/MUC16 and their roles in pancreatic cancer., [RefSeq, PubMed]; Structural and biochemical analysis of atypically low dephosphorylating activity of human dual-specificity phosphatase 28 Publication Status: Online-Only, [RefSeq, PubMed]; Taken together, these data demonstrate that DUSP28 plays a significant role in HCC progression and may be a feasible molecular target for anti-cancer therapy., [RefSeq, PubMed]; These results establish novel insight into DUSP28 and PDGF-A related autonomous signaling pathway in pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0016791 phosphatase activity;GO:0004725 protein tyrosine phosphatase activity;GO:0004721 phosphoprotein phosphatase activity", "go_cellular_component": "", "go_biological_process": "GO:0016311 dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q4G0W2-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78312-7", "uniprot_id": [ { "id": "F193A_HUMAN", "url": "https://www.uniprot.org/uniprot/P78312", "type": "external" } ], "mass": 166372.0, "length": 1515, "protein_name": "Protein FAM193A", "gene_name": "FAM193A", "organism": "Human", "refseq_name": "protein FAM193A isoform 2", "refseq_ac": [ { "id": "NP_001243595", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243595", "type": "external" } ], "gene_names_uniprotkb": "FAM193A; C4orf8; RES4-22", "gene_names_refseq": "C4orf8; FAM193A; RES4-22", "protein_names_uniprotkb": "Protein FAM193A; Protein IT14", "protein_names_refseq": "protein FAM193A isoform 2; protein FAM193A", "tax_id": 9606, "disease": "", "pathway": " (hsa:8603)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10.1101/2023.09.13.557529;18669648;21406692;23186163;36897777;9734812", "class_list": "", "function": "Acts as a positive regulator of p53/TP53 by interacting with p53 repressors MDM2 and MDM4 and destabilizing MDM4 which leads to enhanced p53 transcriptional activity., [UniProtKB, PubMed]; FAM193A is a positive regulator of p53 activity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 9803, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0A1B0GVL4;B7ZM85;B9EGR0;E9PFA1;O43607;P78311;P78313;Q9UEG8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:1901798 positive regulation of signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P78312-7", "record_type": "protein", "filter_code": "0000000.0000101.010000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60320-1", "uniprot_id": [ { "id": "EREP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60320", "type": "external" } ], "mass": 56544.0, "length": 539, "protein_name": "Protein ENTREP2", "gene_name": "ENTREP2", "organism": "Human", "refseq_name": "protein ENTREP2 isoform 1", "refseq_ac": [ { "id": "NP_056122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056122", "type": "external" } ], "gene_names_uniprotkb": "ENTREP2; FAM189A1; KIAA0574; TMEM228", "gene_names_refseq": "ENTREP2; FAM189A1; TMEM228", "protein_names_uniprotkb": "Protein ENTREP2; Endosomal transmembrane epsin interactor 2; Transmembrane protein 228", "protein_names_refseq": "family with sequence similarity 189 member A1; protein ENTREP2 isoform 1; protein ENTREP2; protein FAM189A1; transmembrane protein 228", "tax_id": 9606, "disease": "", "pathway": " (hsa:23359)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;16344560;19913121;20628086;28832583;29242379;39894887", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0PK09", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "O60320-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43005-1", "uniprot_id": [ { "id": "EAA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P43005", "type": "external" } ], "mass": 57100.0, "length": 524, "protein_name": "Excitatory amino acid transporter 3", "gene_name": "SLC1A1", "organism": "Human", "refseq_name": "excitatory amino acid transporter 3", "refseq_ac": [ { "id": "NP_004161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004161", "type": "external" } ], "gene_names_uniprotkb": "SLC1A1; EAAC1; EAAT3; HEAAC1", "gene_names_refseq": "DCBXA; EAAC1; EAAT3; SCZD18; SLC1A1; hEAAC1", "protein_names_uniprotkb": "Excitatory amino acid transporter 3; Excitatory amino-acid carrier 1; Neuronal and epithelial glutamate transporter; Sodium-dependent glutamate/aspartate transporter 3; Solute carrier family 1 member 1", "protein_names_refseq": "excitatory amino acid carrier 1; excitatory amino acid transporter 3; neuronal and epithelial glutamate transporter; sodium-dependent glutamate/aspartate transporter 3; solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1", "tax_id": 9606, "disease": "episodic ataxia type 6 (Disease Ontology:DOID:0050994); dicarboxylic aminoaciduria (Disease Ontology:DOID:0060650); schizophrenia 18 (Disease Ontology:DOID:0070093); neurodegenerative disease (Disease Ontology:DOID:1289); low tension glaucoma (Disease Ontology:DOID:13544); epilepsy (Disease Ontology:DOID:1826); multiple system atrophy (Disease Ontology:DOID:4752)", "pathway": " (hsa:6505); (R-HSA-210500); (R-HSA-5619067); (R-HSA-9958863)", "pathway_count": 4, "publication_count": 67, "publication_id_list": "10440375;10620514;11001057;11015561;11237011;11242046;11317217;11756489;12519779;15935055;16116111;16616430;17478680;17891149;17989281;18215623;18578522;21123949;21982423;23084727;23341099;24578174;24714562;24715725;25502872;26690923;26728094;28228285;28467828;28514659;28832583;28904123;29242379;29331515;29508533;29557506;30459171;30573663;31154438;31844290;3214421;32157095;32161166;32350084;32387766;32938616;33592498;33658209;33717175;33968037;34433824;34561969;34628354;34932366;35051231;35154160;35580925;36010968;36241641;36344769;7521911;7791878;7859077;7914198;8857541;9108121;9701566", "class_list": "", "function": "Cryo-EM structures of excitatory amino acid transporter 3 visualize coupled substrate, sodium, and proton binding and transport. Publication Status: Online-Only, [RefSeq, PubMed]; Epstein-Barr virus infection controls the concentration of the intracellular antioxidant glutathione by upregulation of the glutamate transporter EAAT3 in tumor cells., [RefSeq, PubMed]; SLC1A1 mediated glutamine addiction and contributed to natural killer T-cell lymphoma progression with immunotherapeutic potential., [RefSeq, PubMed]; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:21123949, PubMed:26690923, PubMed:33658209, PubMed:7521911, PubMed:7914198, PubMed:8857541). Can also transport L-cysteine (PubMed:21123949). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:26690923, PubMed:33658209, PubMed:7521911, PubMed:8857541). Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:26690923, PubMed:8857541). Plays an important role in L-glutamate and L-aspartate reabsorption in renal tubuli (PubMed:21123949). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (By similarity). Contributes to glutathione biosynthesis and protection against oxidative stress via its role in L-glutamate and L-cysteine transport (By similarity). Negatively regulated by ARL6IP5 (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O75587;Q5VZ24;Q8N199;Q9UEW2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0005253 monoatomic anion channel activity;GO:0015108 chloride transmembrane transporter activity;GO:0005314 high-affinity L-glutamate transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0006750 glutathione biosynthetic process;GO:0071577 zinc ion transmembrane transport;GO:0007613 memory;GO:0007626 locomotory behavior;GO:0030534 adult behavior", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P43005-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVH1-1", "uniprot_id": [ { "id": "DJC11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVH1", "type": "external" } ], "mass": 63278.0, "length": 559, "protein_name": "DnaJ homolog subfamily C member 11", "gene_name": "DNAJC11", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 11", "refseq_ac": [ { "id": "NP_060668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060668", "type": "external" } ], "gene_names_uniprotkb": "DNAJC11", "gene_names_refseq": "DNAJC11; dJ126A5.1", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 11", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 11; dnaJ homolog subfamily C member 11; novel DnaJ domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55735); (R-HSA-8949613)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "11237011;12964007;17121862;17222547;17510655;17624330;18323778;20833715;21836051;22114354;22252321;22864911;24098383;24687277;24714562;25111180;25285856;25418920;25505266;25645385;25764979;25781180;25880248;25997101;26375851;26416881;26477565;26530328;26728094;26758079;26811146;26968360;26992070;27479602;27485409;27600516;27623147;27862975;27920218;28218747;28228285;28510447;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30379171;30484775;30779550;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33298915;33392160;33592498;33691108;33717175;33968037;33981976;34087483;34171305;34357683;34509645;34561969;34932366;35051231;35580925;36241641;36284347;36895010;37938771;38665916;40596516;40914422", "class_list": "", "function": "CircDNAJC11 interacts with TAF15 to promote breast cancer progression via enhancing MAPK6 expression and activating the MAPK signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; FLJ10737 and CAMTA1 genes on 1p36.31-p36.23 are candidate tumor suppressor genes of neuroblastoma GeneRIF: FLJ10737 protein consists of the DnaJ domain, bipartite NLS, FADH domain, and FEMCA domain. Mouse E030019A03, zebrafish MGC55845, Drosophila CG8531 and Arabidopsis At2g35720 were homologs of human FLJ10737., [RefSeq, PubMed]; Mitofilin helps regulate mitochondrial morphology and at least four of the associated proteins (metaxins 1 and 2, SAM50 and CHCHD3) have been implicated in protein import; DnaJC11 is a chaperone-like protein that may have a similar role, [RefSeq, PubMed]; No evidence for somatic mutations in CAMTA1 in neuroblastoma, [RefSeq, PubMed]; Required for mitochondrial inner membrane organization. Seems to function through its association with the MICOS complex and the mitochondrial outer membrane sorting assembly machinery (SAM) complex., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4VWF5;Q5VZN0;Q6PK20;Q6PK70;Q8NDM2;Q96CL7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001401 SAM complex;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0140275 MIB complex", "go_biological_process": "GO:0042407 cristae formation;GO:0007007 inner mitochondrial membrane organization", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q9NVH1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9I9-1", "uniprot_id": [ { "id": "DTX3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9I9", "type": "external" } ], "mass": 37988.0, "length": 347, "protein_name": "E3 ubiquitin-protein ligase DTX3", "gene_name": "DTX3", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase DTX3 isoform b", "refseq_ac": [ { "id": "NP_001273174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273174", "type": "external" } ], "gene_names_uniprotkb": "DTX3; RNF154", "gene_names_refseq": "DTX3; RNF154; deltex3", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase DTX3; 2.3.2.27; Deltex3; Protein deltex-3; RING finger protein 154; RING-type E3 ubiquitin transferase DTX3", "protein_names_refseq": "E3 ubiquitin-protein ligase DTX3 isoform b; RING finger protein 154; RING-type E3 ubiquitin transferase DTX3; deltex 3, E3 ubiquitin ligase; deltex homolog 3; probable E3 ubiquitin-protein ligase DTX3; protein deltex-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:196403)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;12670957;17028573;23481700;24714562;25576301;28228285;28832583;28855257;29242379;29493099;29508533;29557506;31154438;31217245;31222486;31844290;31848261;31854042;31998317;32157095;32938616;32983136;33616774;33717175;33968037;35051231;35580925;35782979;36010968;36614304;37108544;40127622", "class_list": "", "function": "DTX3 copy number increase in breast cancer: a study of associations to molecular subtype, proliferation and prognosis., [RefSeq, PubMed]; DTX3 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]., [RefSeq]; Functions as an ubiquitin ligase protein, and regulates Notch signaling (PubMed:35782979, PubMed:40127622). By promoting the ubiquitination and subsequent degradation of target proteins, it can block activation of the Notch signaling pathway, potentially acting as a tumor suppressor in human cancers (PubMed:31854042, PubMed:35782979, PubMed:40127622)., [UniProtKB, PubMed, PubMed, PubMed]; Involved in the angiogenic EPHB4 kinase degradation in cancer cell., [UniProtKB, PubMed]; It is reported that BBAP and the human family of DTX proteins (DTX1, DTX2, and DTX3) function as E3 ligases based on their capacity for self-ubiquitination., [RefSeq, PubMed]; Silencing DTX3L Inhibits the Progression of Cervical Carcinoma by Regulating PI3K/AKT/mTOR Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; We show here that both molecules (Deltex (DTX) and AIP4) interact and partially colocalize to endocytic vesicles, and that AIP4 targets DTX for lysosomal degradation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A346B4X6;Q53ZZ2;Q8NAU6;Q8NDS8", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0007219 Notch signaling pathway;GO:0016567 protein ubiquitination;GO:0008593 regulation of Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q8N9I9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5C7-1", "uniprot_id": [ { "id": "DTWD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5C7", "type": "external" } ], "mass": 35248.0, "length": 304, "protein_name": "tRNA-uridine aminocarboxypropyltransferase 1", "gene_name": "DTWD1", "organism": "Human", "refseq_name": "tRNA-uridine aminocarboxypropyltransferase 1", "refseq_ac": [ { "id": "NP_001138427", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138427", "type": "external" } ], "gene_names_uniprotkb": "DTWD1; MDS009", "gene_names_refseq": "DTWD1; MDS009", "protein_names_uniprotkb": "tRNA-uridine aminocarboxypropyltransferase 1; 2.5.1.25; DTW domain-containing protein 1", "protein_names_refseq": "DTW domain containing 1; DTW domain-containing protein 1; tRNA-uridine aminocarboxypropyltransferase 1; x 009 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:56986)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11237011;22869377;25576301;25645385;25880248;26154972;26992070;27600516;27846572;27862975;28228285;28832583;28834231;29242379;29437277;29493099;29508533;29557506;29632711;30315122;30410026;30429286;30779550;31092671;31154438;31217245;31222486;31804502;31844290;31848261;31924336;32157095;32357974;32502341;32897882;32938616;32983136;33123756;33592498;33691108;33981976;34078123;34932366;35051231;35318648;35580925;36241641;36284347", "class_list": "", "function": "Catalyzes the formation of 3-(3-amino-3-carboxypropyl)uridine (acp3U) at position 20 in the D-loop of several cytoplasmic tRNAs (acp3U(20))., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Inactivating mutations of tumor suppressor genes KLOTHO and DTWD1 in colorectal cancers., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q567Q3;Q8WVG9;Q9NRU6", "ec_number_list": [ { "id": "2.5.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.25", "type": "external" }, { "id": "2.7.7.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.1", "type": "external" }, { "id": "2.7.7.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.18", "type": "external" } ], "go_molecular_function": "GO:0016432 tRNA-uridine aminocarboxypropyltransferase activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006400 tRNA modification;GO:0008033 tRNA processing", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8N5C7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51161-1", "uniprot_id": [ { "id": "FABP6_HUMAN", "url": "https://www.uniprot.org/uniprot/P51161", "type": "external" } ], "mass": 14371.0, "length": 128, "protein_name": "Gastrotropin", "gene_name": "FABP6", "organism": "Human", "refseq_name": "gastrotropin isoform 1", "refseq_ac": [ { "id": "NP_001035532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035532", "type": "external" } ], "gene_names_uniprotkb": "FABP6; ILBP; ILLBP", "gene_names_refseq": "FABP6; I-15P; I-BABP; I-BALB; I-BAP; ILBP3; ILBP; ILLBP", "protein_names_uniprotkb": "Gastrotropin; Fatty acid-binding protein 6; GT; I-15P; I-BABP; ILBP; Ileal lipid-binding protein; Intestinal 15 kDa protein; Intestinal bile acid-binding protein", "protein_names_refseq": "GT; fatty acid binding protein 6, ileal; gastrotropin isoform 1; gastrotropin; ileal bile acid binding protein; ileal lipid-binding protein; illeal lipid-binding protein; intestinal 15 kDa protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:2172); (R-HSA-159418); (R-HSA-163560); (R-HSA-9623433)", "pathway_count": 4, "publication_count": 58, "publication_id_list": "10334992;10334993;10358072;10601278;10671541;10884298;10987286;11159893;11237011;11387316;11461829;11870371;11980911;12220224;12393883;12404239;12404240;12486725;12663868;12704183;12815072;12832420;13416382;14572640;14699511;15364929;15456755;16317684;16541101;16741517;16871576;16908160;17603008;17650074;17909007;19181555;19744871;2037576;21504868;22541735;23018617;23337244;26613247;27862975;29557506;30779550;31602654;32357974;34685761;35216267;36232642;38940038;7077161;7557095;7588781;7619861;8034703;8132774", "class_list": "", "function": "Binds to bile acids and is involved in enterohepatic bile acid metabolism. Required for efficient apical to basolateral transport of conjugated bile acids in ileal enterocytes (By similarity). In vitro binds to bile acids in the order: deoxycholic acid > cholic acid > chenodeoxycholic acid and respective BA conjugation modifies affinities in the order taurine-conjugated > glycine-conjugated > unconjugated bile acids. Stimulates gastric acid and pepsinogen secretion (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed]; Essential for the survival of colon cancer cells to bile acid-induced apoptosis., [UniProtKB, PubMed]; Fatty Acid Binding Protein 6 Inhibition Decreases Cell Cycle Progression, Migration and Autophagy in Bladder Cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of FABP6 Reduces Tumor Cell Invasion and Angiogenesis through the Decrease in MMP-2 and VEGF in Human Glioblastoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Multiple Timescale Dynamic Analysis of Functionally-Impairing Mutations in Human Ileal Bile Acid-Binding Protein. Publication Status: Online-Only, [RefSeq, PubMed]; REST Promotes Autophagy in Gastric Cancer by Transcriptionally Activating FABP6 to Inhibit the Akt/mTOR Signaling Pathway., [RefSeq, PubMed]; Study of FABP's interactome and detecting new molecular targets in clear cell renal cell carcinoma., [RefSeq, PubMed]; This gene encodes the ileal fatty acid binding protein. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP6 and FABP1 (the liver fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. Transcript variants generated by alternate transcription promoters and/or alternate splicing have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q07DR7;Q8TBI3;Q9UGI7", "ec_number_list": [], "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0005504 fatty acid binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0008285 negative regulation of cell population proliferation;GO:0015908 fatty acid transport;GO:0019433 triglyceride catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "P51161-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7S2-1", "uniprot_id": [ { "id": "DNJ5G_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7S2", "type": "external" } ], "mass": 21433.0, "length": 189, "protein_name": "DnaJ homolog subfamily C member 5G", "gene_name": "DNAJC5G", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 5G isoform 1", "refseq_ac": [ { "id": "NP_001290056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290056", "type": "external" } ], "gene_names_uniprotkb": "DNAJC5G", "gene_names_refseq": "CSP-gamma; DNAJC5G", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 5G; CSP-gamma; Cysteine string protein-gamma", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 5 gamma; cysteine string protein-gamma; dnaJ homolog subfamily C member 5G isoform 1; dnaJ homolog subfamily C member 5G; gamma-CSP; gamma-cysteine string protein", "tax_id": 9606, "disease": "neuronal ceroid lipofuscinosis 4 (Disease Ontology:DOID:0110720); neuronal ceroid lipofuscinosis (Disease Ontology:DOID:14503)", "pathway": " (hsa:285126)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;19413330", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DY29;Q53SY5;Q8IYQ4;Q96RJ8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N7S2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08648-1", "uniprot_id": [ { "id": "ITA5_HUMAN", "url": "https://www.uniprot.org/uniprot/P08648", "type": "external" } ], "mass": 114536.0, "length": 1049, "protein_name": "Integrin alpha-5", "gene_name": "ITGA5", "organism": "Human", "refseq_name": "integrin alpha-5 precursor", "refseq_ac": [ { "id": "NP_002196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002196", "type": "external" } ], "gene_names_uniprotkb": "ITGA5; FNRA", "gene_names_refseq": "CD49e; FNRA; ITGA5; VLA-5; VLA5A", "protein_names_uniprotkb": "Integrin alpha-5; CD49 antigen-like family member E; Fibronectin receptor subunit alpha; Integrin alpha-F; VLA-5", "protein_names_refseq": "CD49 antigen-like family member E; ITGA5/SLC9B1 fusion; fibronectin receptor subunit alpha; fibronectin receptor, alpha subunit; integrin alpha-5 precursor; integrin alpha-5; integrin alpha-F; integrin, alpha 5 (fibronectin receptor, alpha polypeptide); very late activation protein 5, alpha subunit", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:3678); (R-HSA-1566948); (R-HSA-1566977); (R-HSA-202733); (R-HSA-216083); (R-HSA-445144); (R-HSA-8941332); (R-HSA-9634597); (R-HSA-9856532); (R-HSA-9860927)", "pathway_count": 10, "publication_count": 277, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10094488;10198291;10209034;10366422;10397733;10438935;10543983;10593924;10605720;10606205;10611478;10640428;10673366;10713152;10714768;10764623;10811134;10818153;10936461;10982388;11043579;11158588;11207550;11237011;11256994;11481325;11518510;11564780;11572855;11713259;11773440;11779189;11812992;11912194;11980922;12070135;12208882;12456642;12469115;12496264;12585966;12682293;12695522;12782713;12807887;12907437;14529530;14596610;14615387;14675202;14718570;15000751;15240572;15245432;15304325;15330449;15345499;15383545;15528364;15539556;15597056;15681301;15702487;15705806;15713743;15721307;1588291;15899827;1591491;16002701;16051604;16239428;16258728;16297198;16569642;16585556;16645038;16691243;16731529;16737840;16754661;16754960;16783819;16906757;16933105;17064312;17099249;17116209;17158881;17167768;17172599;17253643;17322099;17339034;17379646;17379836;17442946;17452516;17483156;17505016;17525755;17563375;17580308;17600130;17615384;17625065;17968485;18222703;18280240;1834647;18555990;18566127;18635536;18710925;18775695;19159218;19279206;19342448;19349973;19502598;19741198;19931550;20033473;2010551;2045422;20690820;20705068;21193412;21659548;21844907;22177953;22451694;22495674;22539938;22740495;22884367;2295682;23090970;23374253;23389849;23479567;23584533;23695678;23945545;23954936;24011356;24043627;24190977;24275569;24478423;2450560;24530924;24764293;24962572;2538457;25398877;25502872;25576301;25880248;26060017;26076738;26190834;26811146;26987903;26992070;27317874;27392633;27452731;27600516;27641064;27797339;27846572;28450397;28510447;28595943;28832583;28904123;29030430;29242379;29391424;2944883;29557506;2958481;29741879;3033641;30524438;31202709;31217245;31331973;31408443;31611695;31844290;32037480;32157095;32350084;32357974;32387766;32488085;32673515;32938616;32983136;33043033;33102950;33214551;33298915;33592498;33962943;33968037;33981976;34019948;34078123;34171305;34509645;35051231;35251023;35254053;35318648;35494241;35580925;36010968;36241641;37074911;38665916;3872795;38844957;38918360;39154793;39299505;39441936;40307207;40596516;468991;6123066;6643500;7504269;7505120;7509040;7521878;7525578;7541634;7542249;7559467;7568118;7651538;7685013;8118028;8163559;8166770;8314844;8315383;8344274;8388392;8509458;8560266;8592152;8598224;8617364;8620897;8702633;8798654;8838667;8910476;9038151;9052782;9169774;9242610;9251239;9295288;9382878;9396761;9443892;9565552;9693095;9763524;9858236", "class_list": "", "function": "(Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human parvovirus B19., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGA5:ITGB1 acts as a receptor for Human metapneumovirus., [UniProtKB, PubMed]; Acute contact with profibrotic macrophages mechanically activates fibroblasts via alphavbeta3 integrin-mediated engagement of Piezo1., [RefSeq, PubMed]; Connexin 43 controls metastatic behavior in triple negative breast cancer through TGFbeta1-Smad3-intergin alphaV signaling axis Based on optical image diagnosis., [RefSeq, PubMed]; Hypoxia-driven heterogeneous expression of alpha5 integrin in glioblastoma stem cells is linked to HIF-2alpha., [RefSeq, PubMed]; IGFBP2/ITGA5 promotes gefitinib resistance via activating STAT3/CXCL1 axis in non-small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Integrin alpha-5/beta-1 (ITGA5:ITGB1) is a receptor for fibronectin and fibrinogen. It recognizes the sequence R-G-D in its ligands. ITGA5:ITGB1 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). ITGA5:ITGB1 acts as a receptor for fibronectin (FN1) and mediates R-G-D-dependent cell adhesion to FN1 (PubMed:33962943). ITGA5:ITGB1 is a receptor for IL1B and binding is essential for IL1B signaling (PubMed:29030430). ITGA5:ITGB3 is a receptor for soluble CD40LG and is required for CD40/CD40LG signaling (PubMed:31331973)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Integrin alphaVbeta1-activated PYK2 promotes the progression of non-small-cell lung cancer via the STAT3-VGF axis. Publication Status: Online-Only, [RefSeq, PubMed]; The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 5 subunit. This subunit associates with the beta 1 subunit to form a fibronectin receptor. This integrin may promote tumor invasion, and higher expression of this gene may be correlated with shorter survival time in lung cancer patients. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 14, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 14, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 16, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 16, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 43, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 121, "disease_count": 1, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "Q96HA5", "ec_number_list": [], "go_molecular_function": "GO:0005161 platelet-derived growth factor receptor binding;GO:0005178 integrin binding;GO:0005509 calcium ion binding;GO:0005154 epidermal growth factor receptor binding;GO:0001618 virus receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:1903672 positive regulation of sprouting angiogenesis;GO:0023035 CD40 signaling pathway;GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 41.7, "record_id": "P08648-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100100001001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00757-1", "uniprot_id": [ { "id": "F16P2_HUMAN", "url": "https://www.uniprot.org/uniprot/O00757", "type": "external" } ], "mass": 36743.0, "length": 339, "protein_name": "Fructose-1,6-bisphosphatase isozyme 2", "gene_name": "FBP2", "organism": "Human", "refseq_name": "fructose-1,6-bisphosphatase isozyme 2", "refseq_ac": [ { "id": "NP_003828", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003828", "type": "external" } ], "gene_names_uniprotkb": "FBP2", "gene_names_refseq": "CORLK; FBP2", "protein_names_uniprotkb": "Fructose-1,6-bisphosphatase isozyme 2; 3.1.3.11; D-fructose-1,6-bisphosphate 1-phosphohydrolase 2; FBPase 2; Muscle FBPase", "protein_names_refseq": "D-fructose-1,6-bisphosphate 1-phosphohydrolase 2; FBPase 2; fructose-1,6-bisphosphatase 2; fructose-1,6-bisphosphatase isozyme 2; hexosediphosphatase; muscle FBPase; muscle fructose-bisphosphatase", "tax_id": 9606, "disease": "leukodystrophy, childhood-onset, remitting (MONDO:MONDO:0859246)", "pathway": " (hsa:8789); (R-HSA-70263)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10229653;10714828;11506403;11851336;12093795;12437512;12507293;1278465;12965222;14718531;14722102;15710582;16213487;17350621;18214967;18337460;183598;18449899;18613815;19118303;19626708;21949678;22120740;23506893;24086250;25576301;28904123;3170585;3208766;32357974;3355497;33977262;35051231;3529090;35494241;36241641;37640002;38183507;4827367;5009693;6434534;6771269;7144574;7391027;7573034;7717389;8211187;8447317;8571957;8645161;9382095;9428641;9585002;9657976;9678974;9758626", "class_list": "glycogene", "function": "Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations and probably participates in glycogen synthesis from carbohydrate precursors, such as lactate., [UniProtKB, PubMed, PubMed, PubMed]; DNA methyltransferase 3a-induced hypermethylation of the fructose-1,6-bisphosphatase-2 promoter contributes to gastric carcinogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM32 promotes oral squamous cell carcinoma progression by enhancing FBP2 ubiquitination and degradation., [RefSeq, PubMed]; The key role in strong AMP binding to muscle isozyme play K20, T177 and Q179., [RefSeq, PubMed]; This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 439, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q17R39;Q6FI53", "ec_number_list": [ { "id": "3.1.3.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.11", "type": "external" } ], "go_molecular_function": "GO:0042132 fructose 1,6-bisphosphate 1-phosphatase activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0030018 Z disc", "go_biological_process": "GO:0006094 gluconeogenesis;GO:0006000 fructose metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O00757-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95837-1", "uniprot_id": [ { "id": "GNA14_HUMAN", "url": "https://www.uniprot.org/uniprot/O95837", "type": "external" } ], "mass": 41571.0, "length": 355, "protein_name": "Guanine nucleotide-binding protein subunit alpha-14", "gene_name": "GNA14", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein subunit alpha-14", "refseq_ac": [ { "id": "NP_004288", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004288", "type": "external" } ], "gene_names_uniprotkb": "GNA14", "gene_names_refseq": "GNA14; HG1I", "protein_names_uniprotkb": "Guanine nucleotide-binding protein subunit alpha-14; G alpha-14; G protein subunit alpha-14", "protein_names_refseq": "g alpha-14; guanine nucleotide binding protein (G protein), alpha 14; guanine nucleotide-binding protein 14; guanine nucleotide-binding protein subunit alpha-14; heterotrimeric guanine nucleotide-binding protein 1I", "tax_id": 9606, "disease": "McCune Albright syndrome (Disease Ontology:DOID:1858); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9630); (R-HSA-112043); (R-HSA-202040); (R-HSA-399997); (R-HSA-416476); (R-HSA-418592); (R-HSA-428930); (R-HSA-434316); (R-HSA-456926); (R-HSA-6814122)", "pathway_count": 10, "publication_count": 117, "publication_id_list": "10191087;10215864;10567430;10727532;10759852;10861009;11015615;11118617;11588141;11742120;11753430;11786497;12120503;12194018;12496284;12565875;12629551;1322796;14742685;1527003;15448129;15889144;15914509;15951850;16081037;16102047;16182515;16212421;16242307;16268778;16289108;16339447;16415903;16418336;16580177;16702223;16717095;1672265;16753580;16754659;16871065;16892066;16923326;17081983;17095603;17101212;17130640;17395749;17900700;17919190;17962409;1825698;18383439;18434541;1846707;1851174;18515384;18577758;18606873;18827341;18936096;1905813;19212142;19376773;19398560;19401434;19715408;19758793;20670195;21172430;23637185;24130766;25659125;25675501;25892735;27862975;28228285;2841328;29557506;29769354;30315122;30429286;3086311;31154438;31844290;32488085;32639031;33500727;33717175;33892667;34171305;34185709;34657150;35051231;36284347;38917801;7937899;7989336;8073283;8132675;8190105;8208289;8290554;8521505;8664309;8733591;8910365;8982657;9087410;9152406;9153422;9305846;9544801;9618465;9770463;9808756;9924018", "class_list": "", "function": "GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas., [RefSeq, PubMed]; GNA14 stimulation of KLF7 promotes malignant growth of endometrial cancer through upregulation of HAS2. Publication Status: Online-Only, [RefSeq, PubMed]; GNA14's interaction with RACK1 inhibits hepatocellular carcinoma progression through reducing MAPK/JNK and PI3K/AKT signaling pathway., [RefSeq, PubMed]; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems., [UniProtKB]; Hypermethylation of GNA14 and its tumor-suppressive role in hepatitis B virus-related hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1ALW3", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0001664 G protein-coupled receptor binding;GO:0031683 G-protein beta/gamma-subunit complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005834 heterotrimeric G-protein complex", "go_biological_process": "GO:0060158 phospholipase C-activating dopamine receptor signaling pathway;GO:0007165 signal transduction;GO:0001508 action potential;GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "O95837-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0N5-1", "uniprot_id": [ { "id": "PHS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0N5", "type": "external" } ], "mass": 14365.0, "length": 130, "protein_name": "Pterin-4-alpha-carbinolamine dehydratase 2", "gene_name": "PCBD2", "organism": "Human", "refseq_name": "pterin-4-alpha-carbinolamine dehydratase 2", "refseq_ac": [ { "id": "NP_115527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115527", "type": "external" } ], "gene_names_uniprotkb": "PCBD2; DCOH2; DCOHM", "gene_names_refseq": "DCOH2; DCOHM; PCBD2; PHS2", "protein_names_uniprotkb": "Pterin-4-alpha-carbinolamine dehydratase 2; 4-alpha-hydroxy-tetrahydropterin dehydratase 2; 4.2.1.96; DcoH-like protein DCoHm; Dimerization cofactor of hepatocyte nuclear factor 1 from muscle; HNF-1-alpha dimerization cofactor; PHS 2", "protein_names_refseq": "4-alpha-hydroxy-tetrahydropterin dehydratase 2; 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2; DcoH-like protein DCoHm; HNF-1-alpha dimerization cofactor; PHS 2; dimerization cofactor of hepatocyte nuclear factor 1 (HNF1) from muscle; dimerization cofactor of hepatocyte nuclear factor 1 from muscle; pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2; pterin-4-alpha-carbinolamine dehydratase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84105)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11230166;11237011;11980910;12646162;26992070;30964167;32357974;32938616;33298915;33749890", "class_list": "", "function": "MiR-3174 functions as an oncogene in rectal cancer by targeting PCBD2., [RefSeq, PubMed]; PMID: 12646162 concludes Alu repeats interfere with splicing of DCOHM and CAVL such that transcripts containing exons of both genes exist., [RefSeq, PubMed]; Plays a role in tetrahydrobiopterin biosynthesis which is a co-factor for amino acid hydroxylases. May prevent both the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity). Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity (PubMed:11980910). Also acts as a coactivator for HNF1B-dependent transcription (PubMed:33749890)., [UniProtKB, UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8TD40", "ec_number_list": [ { "id": "4.2.1.96", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.96", "type": "external" } ], "go_molecular_function": "GO:0008124 4-alpha-hydroxytetrahydrobiopterin dehydratase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0045893 positive regulation of DNA-templated transcription;GO:0006729 tetrahydrobiopterin biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9H0N5-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12852-1", "uniprot_id": [ { "id": "M3K12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12852", "type": "external" } ], "mass": 93219.0, "length": 859, "protein_name": "Mitogen-activated protein kinase kinase kinase 12", "gene_name": "MAP3K12", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 12 isoform 1", "refseq_ac": [ { "id": "NP_001180440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180440", "type": "external" } ], "gene_names_uniprotkb": "MAP3K12; ZPK", "gene_names_refseq": "DLK; HP09298; MAP3K12; MEKK12; MUK; ZPKP1; ZPK", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 12; 2.7.11.25; DLK; Dual leucine zipper bearing kinase; Leucine-zipper protein kinase; MAPK-upstream kinase; MUK; Mixed lineage kinase; ZPK", "protein_names_refseq": "MAPK-upstream kinase; dual leucine zipper bearing kinase; dual leucine zipper kinase DLK; leucine zipper protein kinase; mitogen-activated protein kinase kinase kinase 12 isoform 1; mixed lineage kinase; protein kinase MUK", "tax_id": 9606, "disease": "", "pathway": " (hsa:7786)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10801814;11237011;14697235;17344846;23979718;25418920;25645385;26992070;27100796;27846572;27920218;28111074;28641113;28832583;29242379;29393594;29632046;30009782;30429286;31844290;32157095;32938616;33592498;33912179;33968037;35051231;35494241;35580925;36010968;36284347;8037767", "class_list": "", "function": "Aryl hydrocarbon receptor enhances the expression of miR-150-5p to suppress cell proliferation and invasion in prostate cancer by regulating MAP3K12, [RefSeq, PubMed]; LZK cooperates with DLK to promote retinal ganglion cell death in response to axon injury., [RefSeq, PubMed]; Part of a non-canonical MAPK signaling pathway (PubMed:28111074). Activated by APOE, enhances the AP-1-mediated transcription of APP, via a MAP kinase signal transduction pathway composed of MAP2K7 and MAPK1/ERK2 and MAPK3/ERK1 (PubMed:28111074). May be an activator of the JNK/SAPK pathway., [UniProtKB, PubMed]; REVIEW: Regulation of Beta-Cell Function and Mass by the Dual Leucine Zipper Kinase Review article, [RefSeq, PubMed]; This gene encodes a member of the serine/threonine protein kinase family. This kinase contains a leucine-zipper domain and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. Alternatively spliced transcript variants encoding different proteins have been described.[provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KSS9;G3V1Y2;Q86VQ5;Q8WY25", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030426 growth cone", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0043687 post-translational protein modification;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0007254 JNK cascade", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q12852-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95672-1", "uniprot_id": [ { "id": "ECEL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95672", "type": "external" } ], "mass": 87791.0, "length": 775, "protein_name": "Endothelin-converting enzyme-like 1", "gene_name": "ECEL1", "organism": "Human", "refseq_name": "endothelin-converting enzyme-like 1 isoform 2", "refseq_ac": [ { "id": "NP_001277716", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277716", "type": "external" } ], "gene_names_uniprotkb": "ECEL1; PRO4991; XCE", "gene_names_refseq": "DA5D; DINE; ECEL1; ECEX; XCE", "protein_names_uniprotkb": "Endothelin-converting enzyme-like 1; 3.4.24.-; Xce protein", "protein_names_refseq": "X converting enzyme; damage induced neuronal endopeptidase; endothelin-converting enzyme-like 1 isoform 2", "tax_id": 9606, "disease": "distal arthrogryposis (Disease Ontology:DOID:0050646); distal arthrogryposis type 5D (Disease Ontology:DOID:0111594)", "pathway": " (hsa:9427)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10.1101/2023.09.13.557529;10698686;11237011;12975309;20112406;23236030;23261301;23808592;23829171;25099528;26992070;29242379;29393594;29557506;29663639;31844290;32161166;32938616;33491998;35051231;36010968;36215666;37938771;38568023;9931490", "class_list": "", "function": "A novel ECEL1 homozygote mutation in the patient with distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases., [RefSeq, PubMed]; Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene. Review article, [RefSeq, PubMed]; ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant., [RefSeq, PubMed]; May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides., [UniProtKB]; Mutations in ECEL1 cause distal arthrogryposis type 5D., [RefSeq, PubMed]; This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]., [RefSeq]; We described a new and homogenous phenotype of DA associated with ECEL1 that resulted in symptoms involving rather the peripheral than the central nervous system and suggesting a developmental dysfunction, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 9835, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q45UD9;Q53RF9;Q6UW86;Q86TH4;Q9NY95", "ec_number_list": [], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008237 metallopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0003016 respiratory system process;GO:0007218 neuropeptide signaling pathway;GO:0016485 protein processing;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "O95672-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15006-1", "uniprot_id": [ { "id": "EMC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15006", "type": "external" } ], "mass": 34834.0, "length": 297, "protein_name": "ER membrane protein complex subunit 2", "gene_name": "EMC2", "organism": "Human", "refseq_name": "ER membrane protein complex subunit 2 isoform 2", "refseq_ac": [ { "id": "NP_055488", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055488", "type": "external" } ], "gene_names_uniprotkb": "EMC2; KIAA0103; TTC35", "gene_names_refseq": "EMC2; KIAA0103; TTC35", "protein_names_uniprotkb": "ER membrane protein complex subunit 2; TPR repeat protein 35; Tetratricopeptide repeat protein 35", "protein_names_refseq": "ER membrane protein complex subunit 2 isoform 2; TPR repeat protein 35; tetratricopeptide repeat domain 35; tetratricopeptide repeat protein 35", "tax_id": 9606, "disease": "", "pathway": " (hsa:9694)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "11237011;19608861;21872626;21993680;22119785;22645359;23481700;24397554;24714562;25418920;25469497;25576301;25645385;25802875;25892735;26024233;26375851;26728094;26992070;27862975;28510447;28904123;29242231;29437277;29493099;29557506;29809151;30410026;30415835;30429286;31217245;31844290;32157095;32265295;32350084;32357974;32387766;32439656;32459176;32488085;32502341;32897882;32938616;32983136;33592498;33633747;33717175;33912179;33936100;33964204;33968037;33981976;34087483;34171305;34185709;34229054;34357683;34932366;35051231;35318648;35561310;35580925;36010968;36240223;36284347;36581221;37938771;40596516", "class_list": "", "function": "Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:29242231, PubMed:29809151, PubMed:30415835, PubMed:32439656, PubMed:32459176, PubMed:33964204). Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues (PubMed:29242231, PubMed:29809151, PubMed:30415835). Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices (PubMed:29809151, PubMed:30415835). It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes (PubMed:29242231, PubMed:29809151). By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors (PubMed:30415835). By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8WUE1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0072546 EMC complex;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0042406 extrinsic component of endoplasmic reticulum membrane", "go_biological_process": "GO:0071816 tail-anchored membrane protein insertion into ER membrane;GO:0045050 protein insertion into ER membrane by stop-transfer membrane-anchor sequence", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q15006-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96M86-3", "uniprot_id": [ { "id": "DNHD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96M86", "type": "external" } ], "mass": 533644.0, "length": 4753, "protein_name": "Dynein heavy chain domain-containing protein 1", "gene_name": "DNHD1", "organism": "Human", "refseq_name": "dynein heavy chain domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_653267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653267", "type": "external" } ], "gene_names_uniprotkb": "DNHD1; C11orf47; CCDC35; DHCD1; DNHD1L; PRO12970", "gene_names_refseq": "C11orf47; CCDC35; DHCD1; DNHD1L; DNHD1; SPGF65", "protein_names_uniprotkb": "Dynein heavy chain domain-containing protein 1; Coiled-coil domain-containing protein 35; Dynein heavy chain domain 1-like protein", "protein_names_refseq": "DNHD1 variant protein; coiled-coil domain containing 35; coiled-coil domain-containing protein 35; dynein heavy chain domain 1-like protein; dynein heavy chain domain-containing protein 1 isoform 1; dynein heavy chain domain-containing protein 1", "tax_id": 9606, "disease": "spermatogenic failure 65 (Disease Ontology:DOID:0112354)", "pathway": " (hsa:144132)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "12975309;23481700;25645385;25892735;27452731;27862975;28228285;28832583;28904123;29242379;29557506;29789417;30192525;30429286;30524438;31154438;31844290;31848261;32387766;32488085;32938616;33141586;33592498;33936100;33968037;34932366;34932939;35051231;35494241;35580925;36010968;36088370;36215666;36768883;37217939;38253038", "class_list": "", "function": "Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice., [RefSeq, PubMed]; Essential for the normal assembly and function of sperm flagella axonemes., [UniProtKB, PubMed]; New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 75, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q2NKK8;Q6UWI9;Q8NAA2;Q8TEE6;Q9NSZ9", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0008569 minus-end-directed microtubule motor activity;GO:0051959 dynein light intermediate chain binding;GO:0045505 dynein intermediate chain binding", "go_cellular_component": "GO:0097227 sperm annulus;GO:0070062 extracellular exosome;GO:0036126 sperm flagellum;GO:0097225 sperm midpiece;GO:0036156 inner dynein arm", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0120316 sperm flagellum assembly", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q96M86-3", "record_type": "protein", "filter_code": "0000000.1000111.000100.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95905-1", "uniprot_id": [ { "id": "ECD_HUMAN", "url": "https://www.uniprot.org/uniprot/O95905", "type": "external" } ], "mass": 72758.0, "length": 644, "protein_name": "Protein ecdysoneless homolog", "gene_name": "ECD", "organism": "Human", "refseq_name": "protein ecdysoneless homolog isoform 2", "refseq_ac": [ { "id": "NP_001129224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129224", "type": "external" } ], "gene_names_uniprotkb": "ECD", "gene_names_refseq": "ECD; GCR2; HSGT1; SGT1", "protein_names_uniprotkb": "Protein ecdysoneless homolog; Human suppressor of GCR two; hSGT1", "protein_names_refseq": "ecdysoneless homolog; human suppressor of GCR two; protein SGT1; protein ecdysoneless homolog isoform 2; protein ecdysoneless homolog; suppressor of GCR2; suppressor of S. cerevisiae gcr2", "tax_id": 9606, "disease": "", "pathway": " (hsa:11319)", "pathway_count": 1, "publication_count": 75, "publication_id_list": "11090341;11237011;16385451;16849563;17081983;18669648;19640839;19919181;20068231;22270930;22977192;23301498;23481700;23880345;24656813;24715725;24722212;25418920;25576301;25892735;26154972;26375851;26711270;26811146;26929215;26992070;27846572;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29557506;30315122;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33941617;33968037;33981976;34087483;34171305;34185709;34405274;34509645;34561969;34932366;35318648;35561310;35580925;35675041;36010968;36241641;36581221;37938771;40914422;9928932", "class_list": "", "function": "Ecdysoneless Overexpression Drives Mammary Tumorigenesis through Upregulation of C-MYC and Glucose Metabolism., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Regulator of p53/TP53 stability and function. Inhibits MDM2-mediated degradation of p53/TP53 possibly by cooperating in part with TXNIP (PubMed:16849563, PubMed:23880345). May be involved transcriptional regulation. In vitro has intrinsic transactivation activity enhanced by EP300. May be a transcriptional activator required for the expression of glycolytic genes (PubMed:19919181, PubMed:9928932). Involved in regulation of cell cycle progression. Proposed to disrupt Rb-E2F binding leading to transcriptional activation of E2F proteins (PubMed:19640839). The cell cycle -regulating function may depend on its RUVBL1-mediated association with the R2TP complex (PubMed:26711270). May play a role in regulation of pre-mRNA splicing (PubMed:24722212). Participates together with DDX39A in mRNA nuclear export (PubMed:33941617)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JX46;E9PAW8", "ec_number_list": [], "go_molecular_function": "GO:0035035 histone acetyltransferase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "O95905-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01469-1", "uniprot_id": [ { "id": "FABP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01469", "type": "external" } ], "mass": 15164.0, "length": 135, "protein_name": "Fatty acid-binding protein 5", "gene_name": "FABP5", "organism": "Human", "refseq_name": "fatty acid-binding protein 5", "refseq_ac": [ { "id": "NP_001435", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001435", "type": "external" } ], "gene_names_uniprotkb": "FABP5", "gene_names_refseq": "E-FABP; EFABP; FABP5; KFABP; PA-FABP; PAFABP", "protein_names_uniprotkb": "Fatty acid-binding protein 5; E-FABP; Epidermal-type fatty acid-binding protein; Fatty acid-binding protein, epidermal; PA-FABP; Psoriasis-associated fatty acid-binding protein homolog", "protein_names_refseq": "epidermal-type fatty acid-binding protein; fatty acid binding protein 5 (psoriasis-associated); fatty acid-binding protein 5; psoriasis-associated fatty acid-binding protein homolog", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); familial hyperlipidemia (Disease Ontology:DOID:1168); hepatocellular carcinoma (Disease Ontology:DOID:684); psoriasis (Disease Ontology:DOID:8893)", "pathway": " (hsa:2171); (R-HSA-163560); (R-HSA-5362517); (R-HSA-6798695); (R-HSA-9725554)", "pathway_count": 5, "publication_count": 110, "publication_id_list": "10493790;10671541;11237011;11909957;12049637;12067728;12624109;12665801;12832420;1286667;1512466;15140226;15234001;15364929;15456755;15556625;15592455;15675955;15780751;15866176;16297201;16741517;17330888;17603008;18542081;19144697;19181555;19608861;19850744;19924134;20042001;20215566;21395585;21504868;21998312;22170058;22223895;22735594;22871568;23283814;23629652;23650620;23991366;24366607;24531463;24692551;24715725;24794495;25576301;25645385;25880248;26340985;26374642;26992070;27846572;27862975;27920218;28218747;28228285;28467828;28510447;28832583;28834231;29242379;29314611;29393594;29557506;30315122;30397120;30429286;30524438;30573663;30779550;30833945;30905808;31399284;31530632;31844290;31848261;32157095;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33043033;33214551;33968037;33981976;34019948;34087483;34171305;34561969;34932366;35051231;35580925;36010968;36241641;36580660;38665916;38755308;38777142;38847933;38900831;38965292;7704533;8092987;8692836", "class_list": "", "function": "Concomitant decrease of E- and A-FABP expression predicts worse survival in urothelial bladder cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; FABP5 in keratinocyte carcinomas: expression, secretion, and its impact on tumor aggressiveness. Publication Status: Online-Only, [RefSeq, PubMed]; FABP5-binding lipids regulate autophagy in differentiated SH-SY5Y cells. Publication Status: Online-Only, [RefSeq, PubMed]; Fatty acid binding to the human transport proteins FABP3, FABP4, and FABP5 from a Ligand's perspective., [RefSeq, PubMed]; Intracellular carrier for long-chain fatty acids and related active lipids, such as endocannabinoids, that regulate the metabolism and actions of the ligands they bind. In addition to the cytosolic transport, selectively delivers specific fatty acids from the cytosol to the nucleus, wherein they activate nuclear receptors (PubMed:21395585, PubMed:22170058). Delivers retinoic acid to the nuclear receptor peroxisome proliferator-activated receptor delta; which promotes proliferation and survival. May also serve as a synaptic carrier of endocannabinoid at central synapses and thus controls retrograde endocannabinoid signaling. Modulates inflammation by regulating PTGES induction via NF-kappa-B activation, and prostaglandin E2 (PGE2) biosynthesis during inflammation (By similarity). May be involved in keratinocyte differentiation (PubMed:8092987)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; TRIM45 facilitates NASH-progressed HCC by promoting fatty acid synthesis via catalyzing FABP5 ubiquitylation., [RefSeq, PubMed]; This gene encodes the fatty acid binding protein found in epidermal cells, and was first identified as being upregulated in psoriasis tissue. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABPs may play roles in fatty acid uptake, transport, and metabolism. Polymorphisms in this gene are associated with type 2 diabetes. The human genome contains many pseudogenes similar to this locus.[provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4K0", "ec_number_list": [ { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" } ], "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0005504 fatty acid binding;GO:0042802 identical protein binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0098921 retrograde trans-synaptic signaling by endocannabinoid;GO:1990379 lipid transport across blood-brain barrier;GO:0031392 regulation of prostaglandin biosynthetic process;GO:0099178 regulation of retrograde trans-synaptic signaling by endocanabinoid;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q01469-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6H8Z2-1", "uniprot_id": [ { "id": "F221B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6H8Z2", "type": "external" } ], "mass": 45394.0, "length": 402, "protein_name": "Protein FAM221B", "gene_name": "FAM221B", "organism": "Human", "refseq_name": "protein FAM221B", "refseq_ac": [ { "id": "NP_001012448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012448", "type": "external" } ], "gene_names_uniprotkb": "FAM221B; C9orf128", "gene_names_refseq": "C9orf128; FAM221B", "protein_names_uniprotkb": "Protein FAM221B", "protein_names_refseq": "protein FAM221B; uncharacterized protein C9orf128", "tax_id": 9606, "disease": "", "pathway": " (hsa:392307)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;31154438", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TCW2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6H8Z2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3B6-1", "uniprot_id": [ { "id": "EMC9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3B6", "type": "external" } ], "mass": 23061.0, "length": 208, "protein_name": "ER membrane protein complex subunit 9", "gene_name": "EMC9", "organism": "Human", "refseq_name": "ER membrane protein complex subunit 9 isoform a", "refseq_ac": [ { "id": "NP_057133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057133", "type": "external" } ], "gene_names_uniprotkb": "EMC9; C14orf122; CGI-112; FAM158A", "gene_names_refseq": "C14orf122; CGI-112; EMC9; FAM158A", "protein_names_uniprotkb": "ER membrane protein complex subunit 9; Protein FAM158A", "protein_names_refseq": "ER membrane protein complex subunit 9 isoform a; UPF0172 protein FAM158A; family with sequence similarity 158, member A", "tax_id": 9606, "disease": "", "pathway": " (hsa:51016)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;22119785;23481700;25418920;26811146;26992070;27893789;29242231;29393594;29493099;29557506;29632046;29809151;30415835;31844290;32161166;32265295;32387766;32459176;32897882;32938616;33298915;33592498;33912179;34102206;34171305;34405274;34509645", "class_list": "", "function": "Circular RNA circ-FAM158A promotes retinoblastoma progression by regulating miR-138-5p/SLC7A5 axis., [RefSeq, PubMed]; Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:29242231, PubMed:29809151, PubMed:30415835, PubMed:32459176). Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues (PubMed:29242231, PubMed:29809151, PubMed:30415835). Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices (PubMed:29809151, PubMed:30415835). It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes (PubMed:29242231, PubMed:29809151). By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors (PubMed:30415835). By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DS60;Q9BUM3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0072546 EMC complex;GO:0005737 cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0071816 tail-anchored membrane protein insertion into ER membrane;GO:0045050 protein insertion into ER membrane by stop-transfer membrane-anchor sequence", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9Y3B6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UY11-1", "uniprot_id": [ { "id": "DLK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UY11", "type": "external" } ], "mass": 40548.0, "length": 383, "protein_name": "Protein delta homolog 2", "gene_name": "DLK2", "organism": "Human", "refseq_name": "protein delta homolog 2 isoform b precursor", "refseq_ac": [ { "id": "NP_001273584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273584", "type": "external" } ], "gene_names_uniprotkb": "DLK2; EGFL9; PRO28633", "gene_names_refseq": "DLK-2; DLK2; EGFL9", "protein_names_uniprotkb": "Protein delta homolog 2; DLK-2; EGF-like protein 9; Epidermal growth factor-like protein 9", "protein_names_refseq": "EGF-like protein 9; EGF-like-domain, multiple 9; delta-like 2 homolog; epidermal growth factor-like protein 9; protein delta homolog 2 isoform b precursor; protein delta homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:65989)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12975309;17320102;23090970;24190977;31695034;32350084;35163478", "class_list": "", "function": "Different Expression Levels of DLK2 Inhibit NOTCH Signaling and Inversely Modulate MDA-MB-231 Breast Cancer Tumor Growth In Vivo. Publication Status: Online-Only, [RefSeq, PubMed]; EGFL9 promotes breast cancer metastasis by inducing cMET activation and metabolic reprogramming. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates adipogenesis., [UniProtKB, UniProtKB, UniProtKB]; Studies in mouse showed that dlk2, highly homologous to dlk1 (also known as pref-1, and FA-1) appears to modulate adipogenesis in vitro in an opposite way to that of dlk1., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KNZ7;Q5T3T8;Q9BQ54", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0005112 Notch binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0045746 negative regulation of Notch signaling pathway;GO:0045598 regulation of fat cell differentiation;GO:0008593 regulation of Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6UY11-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8X9-1", "uniprot_id": [ { "id": "MB213_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8X9", "type": "external" } ], "mass": 42357.0, "length": 362, "protein_name": "Protein mab-21-like 3", "gene_name": "MAB21L3", "organism": "Human", "refseq_name": "protein mab-21-like 3", "refseq_ac": [ { "id": "NP_689580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689580", "type": "external" } ], "gene_names_uniprotkb": "MAB21L3; C1orf161", "gene_names_refseq": "C1orf161; D5; MAB21L3", "protein_names_uniprotkb": "Protein mab-21-like 3", "protein_names_refseq": "DANGER family member 5; protein mab-21-like 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:126868)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "24397554;24715725;25418920;33298915;33912179;34105348;35494241", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5TDL7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8N8X9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P38117-1", "uniprot_id": [ { "id": "ETFB_HUMAN", "url": "https://www.uniprot.org/uniprot/P38117", "type": "external" } ], "mass": 27844.0, "length": 255, "protein_name": "Electron transfer flavoprotein subunit beta", "gene_name": "ETFB", "organism": "Human", "refseq_name": "electron transfer flavoprotein subunit beta isoform 2", "refseq_ac": [ { "id": "NP_001014763", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014763", "type": "external" } ], "gene_names_uniprotkb": "ETFB; FP585", "gene_names_refseq": "ETFB; FP585; MADD", "protein_names_uniprotkb": "Electron transfer flavoprotein subunit beta; Beta-ETF", "protein_names_refseq": "beta-ETF; electron transfer flavoprotein beta subunit; electron transfer flavoprotein subunit beta isoform 2; electron transfer flavoprotein, beta polypeptide; electron-transferring-flavoprotein, beta polypeptide", "tax_id": 9606, "disease": "multiple acyl-CoA dehydrogenase deficiency (Disease Ontology:DOID:0060358)", "pathway": " (hsa:2109); (R-HSA-611105); (R-HSA-8876725)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10327278;10356313;11237011;11695836;12231006;12815589;12837546;1327877;14741580;15159392;15250827;15498874;15975918;16118227;16230336;17033964;17941859;18212344;186667;20068231;20166139;22424782;23150584;23270816;23349634;23564345;23747254;23783831;239860;24129315;24275569;24366607;24715725;25023281;25144183;25231979;25416781;25564869;25576301;25645385;26154972;26375851;26545399;26768311;26992070;27452731;27499296;27600516;27846572;27920218;28228285;28467828;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29508533;29557506;29786170;30429286;30524438;30779550;31217245;31222486;31373491;31530632;31665600;31844290;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33592498;33912179;33936100;33968037;33981976;34087483;34211107;34229054;34357683;34509645;34561969;35051231;35154160;35251023;35362222;35561310;35580925;36010968;36215666;36241641;36284347;37340703;3760196;37938771;38665916;40596516;40914422;4288886;7912128;8504797;8962055;9878551", "class_list": "", "function": "Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase. Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism. ETFB binds an AMP molecule that probably has a purely structural role., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Molecular Oxygen Binding in the Mitochondrial Electron Transfer Flavoprotein., [RefSeq, PubMed]; This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K766;B3KNY2;Q6IBH7;Q71RF6;Q9Y3S7", "ec_number_list": [], "go_molecular_function": "GO:0009055 electron transfer activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0045251 electron transfer flavoprotein complex", "go_biological_process": "GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase;GO:0022904 respiratory electron transport chain;GO:0009063 amino acid catabolic process", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "P38117-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99551-1", "uniprot_id": [ { "id": "MTEF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99551", "type": "external" } ], "mass": 45778.0, "length": 399, "protein_name": "Transcription termination factor 1, mitochondrial", "gene_name": "MTERF1", "organism": "Human", "refseq_name": "transcription termination factor 1, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001288063", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288063", "type": "external" } ], "gene_names_uniprotkb": "MTERF1; MTERF", "gene_names_refseq": "MTERF1; MTERF", "protein_names_uniprotkb": "Transcription termination factor 1, mitochondrial; Mitochondrial transcription termination factor 1; mTERF1; mTERF", "protein_names_refseq": "transcription termination factor 1, mitochondrial isoform 2; transcription termination factor 1, mitochondrial; transcription termination factor, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:7978); (R-HSA-163316); (R-HSA-2151201)", "pathway_count": 3, "publication_count": 82, "publication_id_list": "10412986;10643692;10713165;11237011;11340167;11809803;12374852;12563009;12745923;14744862;15087485;15684387;15899902;16079181;16079853;16788062;16890199;16908542;16911507;17031457;17437997;17715127;17923681;18215119;18343819;18452278;18680753;19001277;19356719;19417006;19951946;20058876;20543826;20550934;23481700;25576301;26154972;26992070;27600516;27846572;27920218;28063628;28218747;28514659;28832583;28834231;28904123;29242379;29437277;29508533;29557506;29632046;30315122;30833945;31844290;31998317;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33717175;33936100;34171305;34211107;34561969;34932366;35051231;35580925;38488492;7629110;7799916;8108407;8333869;9118945;9178750;9286700", "class_list": "", "function": "FAK mediates hypoxia-induced pulmonary artery smooth muscle cell proliferation by modulating mitochondrial transcription termination factor 1/cyclin D1., [RefSeq, PubMed]; MTERF exists in mitochondria in two forms, an active monomer and an inactive large size complex, [RefSeq, PubMed]; Monomeric human mTERF is fully active in its non-phosphorylated form and that the protein does not require additional cellular factors to terminate mitochondrial transcription in vitro, [RefSeq, PubMed]; This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for directing accurate termination. Binds DNA along the major grove and promotes DNA bending and partial unwinding. Promotes base flipping. Transcription termination activity appears to be polarized with highest specificity for transcripts initiated on the light strand., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D1E3;Q32NF8;Q53H51;Q9BVR7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003676 nucleic acid binding;GO:0003690 double-stranded DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0042645 mitochondrial nucleoid", "go_biological_process": "GO:0006393 termination of mitochondrial transcription;GO:0006353 DNA-templated transcription termination;GO:0032392 DNA geometric change", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q99551-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15398-2", "uniprot_id": [ { "id": "DLGP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15398", "type": "external" } ], "mass": 95115.0, "length": 846, "protein_name": "Disks large-associated protein 5", "gene_name": "DLGAP5", "organism": "Human", "refseq_name": "disks large-associated protein 5 isoform b", "refseq_ac": [ { "id": "NP_001139487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139487", "type": "external" } ], "gene_names_uniprotkb": "DLGAP5; DLG7; KIAA0008", "gene_names_refseq": "DLG7; DLGAP5; HURP", "protein_names_uniprotkb": "Disks large-associated protein 5; DAP-5; Discs large homolog 7; Disks large-associated protein DLG7; HURP; Hepatoma up-regulated protein", "protein_names_refseq": "DAP-5; discs large homolog associated protein 5; discs, large homolog 7; disks large-associated protein 5 isoform b; disks large-associated protein 5; disks large-associated protein DLG7; hepatoma up-regulated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9787); (R-HSA-9013508)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10964718;11866432;12386158;12527899;14699157;14729942;15145941;15340842;15561729;15987997;16565220;16769820;16964243;17322106;17322306;17525332;18220336;18669648;18974129;19007248;19651622;19664994;19691289;20058876;20068231;21406692;22028470;22396495;23186163;23481700;24366607;24714562;24715725;25417103;25418920;25576301;26728094;26811146;26992070;27749937;27841855;27846572;27920218;28218747;28228285;28411811;28446606;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;30192525;30315122;30379171;30779550;30833945;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34561969;35051231;35251023;35561310;36010968;36241641;37421434;38182895;38414025;38665916;40596516;40914422", "class_list": "", "function": "Cdk1-cyclin B-phosphorylated hepatoma up-regulated protein (HURP) proteolysis is regulated by Fbx7 and the SCF complex, [RefSeq, PubMed]; DLGAP5 promotes gallbladder cancer migration and tumor-associated macrophage M2 polarization by activating cAMP., [RefSeq, PubMed]; DLGAP5 promotes lung adenocarcinoma growth via upregulating PLK1 and serves as a therapeutic target. Publication Status: Online-Only, [RefSeq, PubMed]; DLGAP5 triggers proliferation and metastasis of bladder cancer by stabilizing E2F1 via USP11., [RefSeq, PubMed]; Dlg7 has a role in stem cell survival, in maintaining stem cell properties, and in carcinogenesis., [RefSeq, PubMed]; HURP controls spindle stability and dynamics to achieve efficient kinetochore capture at prometaphase, timely chromosome congression to the metaphase plate, and proper interkinetochore tension for anaphase initiation., [RefSeq, PubMed]; HURP is a potential oncogenic target of Aurora-A., [RefSeq, PubMed]; KIAA0008 expression is associated with invasiveness of HCC; overexpression of KIAA0008 leads to a more invasive phenotype of HCC cell lines., [RefSeq, PubMed]; Potential cell cycle regulator that may play a role in carcinogenesis of cancer cells. Mitotic phosphoprotein regulated by the ubiquitin-proteasome pathway. Key regulator of adherens junction integrity and differentiation that may be involved in CDH1-mediated adhesion and signaling in epithelial cells., [UniProtKB, PubMed, PubMed, PubMed]; Results strongly suggest that HURP is a potential novel cell cycle regulator that may play a role in the carcinogenesis of human cancer cells, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 47, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MTM6;B4DRM8;Q86T11;Q8NG58", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031616 spindle pole centrosome;GO:0072686 mitotic spindle", "go_biological_process": "GO:0051382 kinetochore assembly;GO:0007079 mitotic chromosome movement towards spindle pole;GO:0007059 chromosome segregation;GO:0007346 regulation of mitotic cell cycle;GO:0045842 positive regulation of mitotic metaphase/anaphase transition", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q15398-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15090-1", "uniprot_id": [ { "id": "FABP4_HUMAN", "url": "https://www.uniprot.org/uniprot/P15090", "type": "external" } ], "mass": 14719.0, "length": 132, "protein_name": "Fatty acid-binding protein, adipocyte", "gene_name": "FABP4", "organism": "Human", "refseq_name": "fatty acid-binding protein, adipocyte", "refseq_ac": [ { "id": "NP_001433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001433", "type": "external" } ], "gene_names_uniprotkb": "FABP4", "gene_names_refseq": "A-FABP; AFABP; ALBP; FABP4; HEL-S-104; aP2", "protein_names_uniprotkb": "Fatty acid-binding protein, adipocyte; A-FABP; AFABP; ALBP; Adipocyte lipid-binding protein; Adipocyte-type fatty acid-binding protein; Fatty acid-binding protein 4", "protein_names_refseq": "adipocyte fatty acid binding protein; adipocyte lipid-binding protein; adipocyte-type fatty acid-binding protein; epididymis secretory protein Li 104; fatty acid binding protein 4, adipocyte; fatty acid-binding protein, adipocyte", "tax_id": 9606, "disease": "pre-eclampsia (Disease Ontology:DOID:10591); impotence (Disease Ontology:DOID:1875); muscular atrophy (Disease Ontology:DOID:767)", "pathway": " (hsa:2167); (R-HSA-163560); (R-HSA-381340); (R-HSA-9841922)", "pathway_count": 4, "publication_count": 73, "publication_id_list": "10075656;10425206;10558993;10671541;10835357;10882139;11027271;11095972;11237011;11872672;12213831;12829629;12832420;1310260;15273253;15357969;15364929;15456755;15850785;15919796;16380219;1648089;16741517;16959974;17011499;17077479;17603008;17761950;17975675;17980149;18931025;19043829;19115207;19172745;19181555;20101261;21504868;22223895;22905912;23239344;2481498;26992070;27862975;29557506;29786170;30100196;31844290;31848261;32157095;32983136;33043033;33329381;35051231;35580925;37938771;38777142;38780272;38965292;39062961;39212041;8325954;8463311;8521497;8521498;8643605;8706692;8770873;8970730;9065481;9171241;9454824;9744270;9836620", "class_list": "", "function": "Concomitant decrease of E- and A-FABP expression predicts worse survival in urothelial bladder cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; FABP4 Enhances Lipidic and Fibrotic Cardiac Structural and Ca[2+] Dynamic Changes., [RefSeq, PubMed]; FABP4 encodes the fatty acid binding protein found in adipocytes. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008]., [RefSeq]; Fatty Acid Binding Protein-4 Silencing Inhibits Ferroptosis to Alleviate Lipopolysaccharide-induced Injury of Renal Tubular Epithelial Cells by Blocking Janus Kinase 2/Signal Transducer and Activator of Transcription 3 Signaling., [RefSeq, PubMed]; Fatty Acid-Binding Protein 4-Mediated Regulation Is Pivotally Involved in Retinal Pathophysiology: A Review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Fatty acid binding to the human transport proteins FABP3, FABP4, and FABP5 from a Ligand's perspective., [RefSeq, PubMed]; Lipid transport protein in adipocytes. Binds both long chain fatty acids and retinoic acid. Delivers long-chain fatty acids and retinoic acid to their cognate receptors in the nucleus., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "risk", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6IBA1", "ec_number_list": [], "go_molecular_function": "GO:0036041 long-chain fatty acid binding;GO:0005319 lipid transporter activity;GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0005504 fatty acid binding;GO:0051427 hormone receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0015908 fatty acid transport;GO:0019433 triglyceride catabolic process;GO:0015909 long-chain fatty acid transport;GO:0120162 positive regulation of cold-induced thermogenesis;GO:0070343 white fat cell proliferation", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P15090-1", "record_type": "protein", "filter_code": "0000100.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDZ4-1", "uniprot_id": [ { "id": "DIK2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDZ4", "type": "external" } ], "mass": 49482.0, "length": 430, "protein_name": "Divergent protein kinase domain 2A", "gene_name": "DIPK2A", "organism": "Human", "refseq_name": "divergent protein kinase domain 2A isoform b", "refseq_ac": [ { "id": "NP_001127942", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127942", "type": "external" } ], "gene_names_uniprotkb": "DIPK2A; C3orf58; DIA1", "gene_names_refseq": "C3orf58; DIA1; DIPK2A; GoPro49; HASF", "protein_names_uniprotkb": "Divergent protein kinase domain 2A; Deleted in autism protein 1; GoPro49; Golgi Protein of 49 kDa; HASF; Hypoxia and AKT-induced stem cell factor", "protein_names_refseq": "Golgi Protein of 49 kDa; Golgi protein GoPro49; UPF0672 protein C3orf58; deleted in autism 1; deleted in autism protein 1; divergent protein kinase domain 2A isoform b; hypoxia and AKT-induced stem cell factor; hypoxia and Akt induced stem cell factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:205428)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;18621663;18651652;21264219;23784961;25418920;28096202;28855257;28904123;29242379;29314611;29666759;29774024;30573663;31020640;31251111;31844290;31848261;32157095;32161166;32350084;33298915;33592498;34171305;34357683;34561969;35051231;35154160;35251023;35561310;35580925;36010968;37217939;38253038;40596516", "class_list": "", "function": "DIPK2A promotes STX17- and VAMP7-mediated autophagosome-lysosome fusion by binding to VAMP7B., [RefSeq, PubMed]; HASF (C3orf58) is a novel ligand of IGF1R. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in cardiomyocyte proliferation through paracrine signaling and activation of the PPI3K-AKT-CDK7 signaling cascade., [UniProtKB, PubMed]; Results support a model where the DIA1 and DIA1R regulate molecular traffic through the cellular secretory pathway or affect the function of secreted factors, and functional deficits cause disorders with ASD-like symptoms and/or mental retardation Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RCF2;B7Z1W3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0030126 COPI vesicle coat;GO:0005576 extracellular region", "go_biological_process": "GO:0051896 regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0034392 negative regulation of smooth muscle cell apoptotic process;GO:0060038 cardiac muscle cell proliferation;GO:1900020 positive regulation of protein kinase C activity", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q8NDZ4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05215-1", "uniprot_id": [ { "id": "EGR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05215", "type": "external" } ], "mass": 61623.0, "length": 589, "protein_name": "Early growth response protein 4", "gene_name": "EGR4", "organism": "Human", "refseq_name": "early growth response protein 4", "refseq_ac": [ { "id": "NP_001956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001956", "type": "external" } ], "gene_names_uniprotkb": "EGR4", "gene_names_refseq": "AT133; EGR4; NGFI-C; NGFIC; PAT133", "protein_names_uniprotkb": "Early growth response protein 4; AT133; EGR-4", "protein_names_refseq": "early growth response protein 4", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); middle cerebral artery infarction (Disease Ontology:DOID:3525)", "pathway": " (hsa:1961); (R-HSA-9031628)", "pathway_count": 2, "publication_count": 136, "publication_id_list": "10.1101/2023.09.13.557529;10203854;10381005;10611221;10611312;10656257;10734128;10826704;10872467;10882540;10984481;11018254;11027551;11237011;11280768;11331872;11343657;11567222;11755530;11840323;11956230;12399542;12511643;1377233;14522948;14597720;14969744;15102911;15161978;15449318;15542842;15620361;1570299;15733869;15836632;15880109;16034366;16136673;16187211;16221685;16260776;16287845;16339507;16407550;16484497;16574654;1658795;16732277;17088210;17088211;17088212;17632064;17898216;18056528;18088355;18160048;1833716;18456662;18524893;1861162;19061646;19116276;19193899;19194657;19926875;2017159;2040600;20506119;2052361;2072895;21057636;2109185;21326363;21486943;21621608;22053691;22065583;22302795;2237820;24060757;25248477;25411851;25569790;25748042;26018600;2676516;27041596;27128622;27220739;28076410;28275114;28286024;28464846;29559111;30556283;3127059;31324691;33392160;33968037;35051231;3672127;7551568;7592934;7595538;7608156;7624335;7777577;7823924;7857651;7871435;7876254;7923378;8090221;8090222;8248782;8413279;8483478;8504297;8576248;8583621;8668170;8756618;8846918;8918830;9032251;9084409;9343422;9390517;9418898;9622090;9722618;9770464;9774344;9808461;9822744;9858769", "class_list": "", "function": "EGR4 directly transactivates specific variants (V3 and V4) of the PTHrP gene resulting in subsequent transactivation of the RANKL, IL-6 and IL-8 genes via paracrine action of the PTHrP protein. Publication Status: Online-Only, [RefSeq, PubMed]; Our study demonstrated that the positive feedback loop between ZNF205-AS1 and EGR4 promotes non-small cell lung cancer (NSCLC) growth, and implied that targeting this feedback loop may be promising therapeutic strategy for NSCLC, [RefSeq, PubMed]; This study is the first to screen the EGR4 gene in relation to male infertility. However, our findings did not clearly explain how nonsynonymous EGR4 variations affect spermatogenesis Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional regulator. Recognizes and binds to the DNA sequence 5'-GCGGGGGCG-3' (GSG). Activates the transcription of target genes whose products are required for mitogenesis and differentiation (By similarity)., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RAE3;G3V1T5;Q2Z1P5", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "Q05215-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43781-1", "uniprot_id": [ { "id": "DYRK3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43781", "type": "external" } ], "mass": 65714.0, "length": 588, "protein_name": "Dual specificity tyrosine-phosphorylation-regulated kinase 3", "gene_name": "DYRK3", "organism": "Human", "refseq_name": "dual specificity tyrosine-phosphorylation-regulated kinase 3 isoform b", "refseq_ac": [ { "id": "NP_001004023", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004023", "type": "external" } ], "gene_names_uniprotkb": "DYRK3", "gene_names_refseq": "DYRK3; DYRK5; REDK; RED; hYAK3-2", "protein_names_uniprotkb": "Dual specificity tyrosine-phosphorylation-regulated kinase 3; 2.7.12.1; REDK; Regulatory erythroid kinase", "protein_names_refseq": "dual specificity tyrosine-(Y)-phosphorylation regulated kinase 3; dual specificity tyrosine-phosphorylation-regulated kinase 3 isoform b; dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5; protein kinase Dyrk3; regulatory erythroid kinase", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal dominant pseudohypoaldosteronism type 1 (Disease Ontology:DOID:0060855); opioid abuse (Disease Ontology:DOID:11206); polycystic ovary syndrome (Disease Ontology:DOID:11612); Down syndrome (Disease Ontology:DOID:14250); alcohol use disorder (Disease Ontology:DOID:1574); morphine dependence (Disease Ontology:DOID:2560); pseudohypoaldosteronism (Disease Ontology:DOID:4479); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:8444)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "10779429;11237011;12356771;15592455;17344846;18083107;20167603;23415227;25418920;25576301;26154972;26811146;27600516;27893789;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29634919;29769354;29973724;30315122;31530632;31844290;32157095;32161166;32265295;32357974;32938616;33298915;33592498;33804169;33912179;33968037;34147560;34171305;34171798;34205123;34357683;38519031;9748265;9845759", "class_list": "", "function": "DYRK3 contributes to differentiation and hypoxic control in neuroblastoma., [RefSeq, PubMed]; DYRK3 has roles in kinase activation, binding to CREB, and hematopoietic progenitor cell survival, [RefSeq, PubMed]; Dual Specificity Kinase DYRK3 Promotes Aggressiveness of Glioblastoma by Altering Mitochondrial Morphology and Function. Publication Status: Online-Only, [RefSeq, PubMed]; Dual-Specificity, Tyrosine Phosphorylation-Regulated Kinases (DYRKs) and cdc2-Like Kinases (CLKs) in Human Disease, an Overview. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Dual-specificity kinase DYRK3 phosphorylates p62 at the Thr-269 residue and promotes melanoma progression., [RefSeq, PubMed]; Dual-specificity protein kinase that promotes disassembly of several types of membraneless organelles during mitosis, such as stress granules, nuclear speckles and pericentriolar material (PubMed:29973724). Dual-specificity tyrosine-regulated kinases (DYRKs) autophosphorylate a critical tyrosine residue in their activation loop and phosphorylate their substrate on serine and threonine residues (PubMed:29634919, PubMed:9748265). Acts as a central dissolvase of membraneless organelles during the G2-to-M transition, after the nuclear-envelope breakdown: acts by mediating phosphorylation of multiple serine and threonine residues in unstructured domains of proteins, such as SRRM1 and PCM1 (PubMed:29973724). Does not mediate disassembly of all membraneless organelles: disassembly of P-body and nucleolus is not regulated by DYRK3 (PubMed:29973724). Dissolution of membraneless organelles at the onset of mitosis is also required to release mitotic regulators, such as ZNF207, from liquid-unmixed organelles where they are sequestered and keep them dissolved during mitosis (PubMed:29973724). Regulates mTORC1 by mediating the dissolution of stress granules: during stressful conditions, DYRK3 partitions from the cytosol to the stress granule, together with mTORC1 components, which prevents mTORC1 signaling (PubMed:23415227). When stress signals are gone, the kinase activity of DYRK3 is required for the dissolution of stress granule and mTORC1 relocation to the cytosol: acts by mediating the phosphorylation of the mTORC1 inhibitor AKT1S1, allowing full reactivation of mTORC1 signaling (PubMed:23415227). Also acts as a negative regulator of EPO-dependent erythropoiesis: may place an upper limit on red cell production during stress erythropoiesis (PubMed:10779429). Inhibits cell death due to cytokine withdrawal in hematopoietic progenitor cells (PubMed:10779429). Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1: this in turn inhibits p53/TP53 activity and apoptosis (PubMed:20167603)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Protein quality control of DYRK family protein kinases by the Hsp90-Cdc37 molecular chaperone., [RefSeq, PubMed]; This gene product belongs to the DYRK family of dual-specificity protein kinases that catalyze autophosphorylation on serine/threonine and tyrosine residues. The members of this family share structural similarity, however, differ in their substrate specificity, suggesting their involvement in different cellular functions. The encoded protein has been shown to autophosphorylate on tyrosine residue and catalyze phosphorylation of histones H3 and H2B in vitro. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DT79;Q7Z752;Q9HBY6;Q9HBY7", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0016607 nuclear speck", "go_biological_process": "GO:1903008 organelle disassembly;GO:0006468 protein phosphorylation;GO:0043066 negative regulation of apoptotic process;GO:0051301 cell division;GO:0030218 erythrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "O43781-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60869-1", "uniprot_id": [ { "id": "EDF1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60869", "type": "external" } ], "mass": 16369.0, "length": 148, "protein_name": "Endothelial differentiation-related factor 1", "gene_name": "EDF1", "organism": "Human", "refseq_name": "endothelial differentiation-related factor 1 isoform 3", "refseq_ac": [ { "id": "NP_001268226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268226", "type": "external" } ], "gene_names_uniprotkb": "EDF1", "gene_names_refseq": "CFAP280; EDF-1; EDF1; MBF1", "protein_names_uniprotkb": "Endothelial differentiation-related factor 1; EDF-1; MBF1; Multiprotein-bridging factor 1", "protein_names_refseq": "endothelial differentiation-related factor 1 isoform 3; multiprotein bridging factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8721)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "10567391;10816571;12040021;15112053;19413330;20068231;21872626;21993680;22223895;23186163;23481700;24129315;24714562;24715725;25418920;25502872;25576301;25645385;25892735;26154972;26375851;26728094;26992070;27543614;27600516;27846572;27862975;27869121;27920218;28510447;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29786170;29789417;30429286;30524438;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32350084;32387766;32502341;32744497;32897882;32938616;32983136;33214551;33298915;33537174;33592498;33691108;33968037;34019948;34078123;34087483;34171305;34357683;34561969;34932366;35051231;35251023;35318648;35580925;36010968;36241641;36284347;9813014", "class_list": "", "function": "EDF1 coordinates cellular responses to ribosome collisions. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]; Transcriptional coactivator stimulating NR5A1 and ligand-dependent NR1H3/LXRA and PPARG transcriptional activities. Enhances the DNA-binding activity of ATF1, ATF2, CREB1 and NR5A1. Regulates nitric oxid synthase activity probably by sequestering calmodulin in the cytoplasm. May function in endothelial cells differentiation, hormone-induced cardiomyocytes hypertrophy and lipid metabolism., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5T5T2;Q9UIM1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0005516 calmodulin binding;GO:0001094 TFIID-class transcription factor complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0019216 regulation of lipid metabolic process;GO:0045893 positive regulation of DNA-templated transcription;GO:0043388 positive regulation of DNA binding", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "O60869-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95886-1", "uniprot_id": [ { "id": "DLGP3_HUMAN", "url": "https://www.uniprot.org/uniprot/O95886", "type": "external" } ], "mass": 106040.0, "length": 979, "protein_name": "Disks large-associated protein 3", "gene_name": "DLGAP3", "organism": "Human", "refseq_name": "disks large-associated protein 3", "refseq_ac": [ { "id": "NP_001073887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887", "type": "external" } ], "gene_names_uniprotkb": "DLGAP3; DAP3", "gene_names_refseq": "DAP3; DLGAP3; SAPAP3; SPAPA3", "protein_names_uniprotkb": "Disks large-associated protein 3; DAP-3; PSD-95/SAP90-binding protein 3; SAP90/PSD-95-associated protein 3; SAPAP3", "protein_names_refseq": "DAP-3; PSD-95/SAP90-binding protein 3; SAP90/PSD-95-associated protein 3; discs large homolog associated protein 3; disks large-associated protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:58512); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "11604393;15540461;16242404;16624946;16846852;17897391;18812509;18829961;19051237;19096451;20064387;20064388;20519524;21282647;21990008;23414653;25378172;28294470;32938616;35051231;35513389;35580925;35661523;36010968;7695896;7736595;8576240;9069287;9808458;9927700", "class_list": "", "function": "May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane., [UniProtKB]; Multiple rare SAPAP3 missense variants in trichotillomania and OCD. Review article, [RefSeq, PubMed]; SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities. Publication Status: Online-Only, [RefSeq, PubMed]; Sapap3 is a promising functional candidate gene for human grooming disorder (obsessive compulsive disorder). GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Several rare variants of the DLGAP3 gene were found in this study which may be associated with schizophrenia., [RefSeq, PubMed]; This study provides suggestive evidence that DLGAP3 and its interactive effect with SLC1A1 might be involved in susceptibility to developing OC symptoms in schizophrenia patients receiving AAP treatment., [RefSeq, PubMed]; Valence processing alterations in SAPAP3 knockout mice and human OCD., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5TDD5;Q9H3X7", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0031594 neuromuscular junction;GO:0098981 cholinergic synapse", "go_biological_process": "GO:0050804 modulation of chemical synaptic transmission;GO:0023052 signaling;GO:0099010 modification of postsynaptic structure", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "O95886-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21918-1", "uniprot_id": [ { "id": "DRD5_HUMAN", "url": "https://www.uniprot.org/uniprot/P21918", "type": "external" } ], "mass": 52951.0, "length": 477, "protein_name": "D(1B) dopamine receptor", "gene_name": "DRD5", "organism": "Human", "refseq_name": "D(1B) dopamine receptor", "refseq_ac": [ { "id": "NP_000789", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000789", "type": "external" } ], "gene_names_uniprotkb": "DRD5; DRD1B; DRD1L2", "gene_names_refseq": "DBDR; DRD1B; DRD1L2; DRD5", "protein_names_uniprotkb": "D(1B) dopamine receptor; D(5) dopamine receptor; D1beta dopamine receptor; Dopamine D5 receptor", "protein_names_refseq": "D(1B) dopamine receptor; D1beta dopamine receptor; d(5) dopamine receptor; dopamine D5 receptor; dopamine receptor D1B", "tax_id": 9606, "disease": "pervasive developmental disorder (Disease Ontology:DOID:0060040); bacterial infectious disease (Disease Ontology:DOID:104); Alzheimer's disease (Disease Ontology:DOID:10652); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); blepharospasm (Disease Ontology:DOID:529); blepharospasm, benign essential, susceptibility to (MONDO:MONDO:0100532)", "pathway": " (hsa:1816); (R-HSA-390651); (R-HSA-418555)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "10391209;10531415;10739409;11007482;11781417;12036966;12058044;12106601;12180353;12860470;13549488;14060771;14671004;1517224;15765929;15769620;15951850;16313925;16687412;16923326;17168849;18044684;1826762;1833775;1834671;1840645;18577758;19105585;19876791;19929708;20381629;21036126;2129115;2144334;2163110;2417744;24687066;2491850;2532362;2553411;2553705;26417854;2871555;29443750;29602314;30833991;3127824;31279028;31399091;31983287;32183536;32226383;32497535;32540603;32618402;32715661;32907377;33049737;35051231;35961947;6085243;7633397;8340388;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase., [UniProtKB, PubMed]; Hypermethylation of DRD5 Promoter Is a Biomarker Across 12 Cancer Types., [RefSeq, PubMed]; Relationship of DRD5 and MAO-B VNTR polymorphisms with paranoid and antisocial personality disorders in polydrug users., [RefSeq, PubMed]; The effects of dopamine receptor genes on the trajectories of sport participation from adolescence through young adulthood., [RefSeq, PubMed]; This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R9S3;Q8NEQ8", "ec_number_list": [], "go_molecular_function": "GO:0004952 dopamine neurotransmitter receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0035240 dopamine binding;GO:0001588 dopamine neurotransmitter receptor activity, coupled via Gs", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0045202 synapse;GO:0031526 brush border membrane;GO:0097730 non-motile cilium", "go_biological_process": "GO:0060158 phospholipase C-activating dopamine receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0043410 positive regulation of MAPK cascade;GO:0071880 adenylate cyclase-activating adrenergic receptor signaling pathway;GO:0001963 synaptic transmission, dopaminergic", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P21918-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100011000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30046-1", "uniprot_id": [ { "id": "DOPD_HUMAN", "url": "https://www.uniprot.org/uniprot/P30046", "type": "external" } ], "mass": 12712.0, "length": 118, "protein_name": "D-dopachrome decarboxylase", "gene_name": "DDT", "organism": "Human", "refseq_name": "D-dopachrome decarboxylase isoform a", "refseq_ac": [ { "id": "NP_001077861", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077861", "type": "external" } ], "gene_names_uniprotkb": "DDT", "gene_names_refseq": "D-DT; DDCT; DDT; MIF-2; MIF2", "protein_names_uniprotkb": "D-dopachrome decarboxylase; 4.1.1.84; D-dopachrome tautomerase; Phenylpyruvate tautomerase II", "protein_names_refseq": "D-dopachrome decarboxylase isoform a; D-dopachrome decarboxylase; phenylpyruvate tautomerase II", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); depressive disorder (Disease Ontology:DOID:1596); status epilepticus (Disease Ontology:DOID:1824); childhood absence epilepsy (Disease Ontology:DOID:1825)", "pathway": " (hsa:1652)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "10079069;11237011;12665801;1286669;18477386;19615748;20166139;23481700;24715725;25418920;25576301;26375851;26811146;26929215;26992070;29557506;29632046;30484775;31217245;31530632;31844290;31848261;32157095;32161166;32938616;32983136;33141586;33298915;33401503;33691108;33968037;34098338;34211107;34281877;34384784;34561969;34932366;35051231;35318648;35494241;35580925;36215666;36241641;36269019;36284347;37938771;8267597;9480844;9716662", "class_list": "", "function": "A structurally preserved allosteric site in the MIF superfamily affects enzymatic activity and CD74 activation in D-dopachrome tautomerase., [RefSeq, PubMed]; D-dopachrome tautomerase contributes to lung epithelial repair via atypical chemokine receptor 3-dependent Akt signaling., [RefSeq, PubMed]; D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme activity, and gene structure. DDT and MIF are closely linked on chromosome 22. [provided by RefSeq, Jul 2008]., [RefSeq]; D-dopachrome tautomerase in cardiovascular and inflammatory diseases-A new kid on the block or just another MIF? Review article, [RefSeq, PubMed]; Knockdown of D-dopachrome Tautomerase Inhibits Cell Proliferation in Human HepG2 Cell Line., [RefSeq, PubMed]; Macrophage Migration Inhibitory Factor (MIF) and Its Homologue d-Dopachrome Tautomerase (DDT) Inversely Correlate with Inflammation in Discoid Lupus Erythematosus. Publication Status: Online-Only, [RefSeq, PubMed]; Tautomerization of D-dopachrome with decarboxylation to give 5,6-dihydroxyindole (DHI)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z522;O00774;O60787;Q13534", "ec_number_list": [ { "id": "4.1.1.84", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.84", "type": "external" } ], "go_molecular_function": "GO:0005126 cytokine receptor binding;GO:0004167 dopachrome isomerase activity;GO:0033981 D-dopachrome decarboxylase activity;GO:0050178 phenylpyruvate tautomerase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0050729 positive regulation of inflammatory response;GO:0032760 positive regulation of tumor necrosis factor production;GO:0042438 melanin biosynthetic process;GO:0010760 negative regulation of macrophage chemotaxis", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "P30046-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54851-1", "uniprot_id": [ { "id": "EMP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P54851", "type": "external" } ], "mass": 19199.0, "length": 167, "protein_name": "Epithelial membrane protein 2", "gene_name": "EMP2", "organism": "Human", "refseq_name": "epithelial membrane protein 2", "refseq_ac": [ { "id": "NP_001415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001415", "type": "external" } ], "gene_names_uniprotkb": "EMP2; XMP", "gene_names_refseq": "EMP2; XMP", "protein_names_uniprotkb": "Epithelial membrane protein 2; EMP-2; Protein XMP", "protein_names_refseq": "epithelial membrane protein 2", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); polycystic kidney disease (Disease Ontology:DOID:0080322); nephrotic syndrome type 10 (Disease Ontology:DOID:0080386); nephronophthisis 16 (Disease Ontology:DOID:0111124); placental insufficiency (Disease Ontology:DOID:3891); uremia (Disease Ontology:DOID:4676); proteinuria (Disease Ontology:DOID:576)", "pathway": " (hsa:2013)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11713717;12107182;12710941;16216233;16487956;18400107;19494199;21637765;22728127;23334331;23439602;23719902;24814193;28295343;29557506;33592498;33799364;33968037;34339014;34617578;35051231;35580925;36371458;36455339;8917086;8996089", "class_list": "", "function": "EMP2 induces cytostasis and apoptosis via the TGFbeta/SMAD/SP1 axis and recruitment of P2RX7 in urinary bladder urothelial carcinoma. Erratum:[Cell Oncol (Dordr). 2024 Oct;47(5):2015-2017. doi: 10.1007/s13402-024-00985-z. PMID: 39225904], [RefSeq, PubMed]; Epithelial Membrane Protein 2 Suppresses Non-Small Cell Lung Cancer Cell Growth by Inhibition of MAPK Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Epithelial membrane protein 2 (EMP2) regulates hypoxia-induced angiogenesis in the adult retinal pigment epithelial cell lines. Publication Status: Online-Only, [RefSeq, PubMed]; Epithelial membrane protein 2 (EMP2): A systematic review of its implications in pathogenesis., [RefSeq, PubMed]; Evaluation as candidate gene for Charcot-Marie-Tooth disease type 1C on chromosome 16p, [RefSeq, PubMed]; Expression of epithelial membrane protein (EMP) 1, EMP 2, and EMP 3 in thyroid cancer., [RefSeq, PubMed]; Functions as a key regulator of cell membrane composition by regulating protein surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. Regulates transepithelial migration of neutrophils into the alveolar lumen, potentially via mediation of cell surface expression of adhesion markers and lipid raft formation (By similarity). Negatively regulates caveolae formation by reducing CAV1 expression and CAV1 amount by increasing lysosomal degradation (PubMed:24814193). Facilitates surface trafficking and formation of lipid rafts bearing GPI-anchor proteins (By similarity). Regulates surface expression of MHC1 and ICAM1 proteins increasing susceptibility to T-cell mediated cytotoxicity (By similarity). Regulates the plasma membrane expression of the integrin heterodimers ITGA6-ITGB1, ITGA5-ITGB3 and ITGA5-ITGB1 resulting in modulation of cell-matrix adhesion (PubMed:16216233). Also regulates many processes through PTK2. Regulates blood vessel endothelial cell migration and angiogenesis by regulating VEGF protein expression through PTK2 activation (PubMed:23439602). Regulates cell contraction through PTK2 activation (PubMed:22728127). Regulates focal adhesion density, F-actin conformation and cell adhesion capacity through interaction with PTK2 (PubMed:19494199). Positively regulates cell proliferation (PubMed:24814193). Plays a role during cell death and cell blebbing (PubMed:12107182). Promotes angiogenesis and vasculogenesis through induction of VEGFA via a HIF1A-dependent pathway (PubMed:23334331). Also plays a role in embryo implantation by regulating surface trafficking of integrin heterodimer ITGA5-ITGB3 (PubMed:16487956). Plays a role in placental angiogenesis and uterine natural killer cell regulation at the maternal-fetal placental interface, however not required in the maternal tissues for a viable pregnancy (By similarity). Involved in the early stages of embryogenic development and cardiogenesis, potentially via regulation of epithelial-mesenchymal transition timing (By similarity). May play a role in glomerular filtration (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R7V6;D3DUF8", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0019900 kinase binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0007015 actin filament organization;GO:0007155 cell adhesion;GO:0008284 positive regulation of cell population proliferation;GO:0072659 protein localization to plasma membrane;GO:0003093 regulation of glomerular filtration", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P54851-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05923-1", "uniprot_id": [ { "id": "DUSP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05923", "type": "external" } ], "mass": 34400.0, "length": 314, "protein_name": "Dual specificity protein phosphatase 2", "gene_name": "DUSP2", "organism": "Human", "refseq_name": "dual specificity protein phosphatase 2", "refseq_ac": [ { "id": "NP_004409", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004409", "type": "external" } ], "gene_names_uniprotkb": "DUSP2; PAC1", "gene_names_refseq": "DUSP2; PAC-1; PAC1", "protein_names_uniprotkb": "Dual specificity protein phosphatase 2; 3.1.3.16; 3.1.3.48; Dual specificity protein phosphatase PAC-1", "protein_names_refseq": "dual specificity protein phosphatase 2; dual specificity protein phosphatase PAC-1; serine/threonine specific protein phosphatase", "tax_id": 9606, "disease": "", "pathway": " (hsa:1844); (R-HSA-112409); (R-HSA-5675221)", "pathway_count": 3, "publication_count": 90, "publication_id_list": "10206983;10415025;10490027;10702794;10757792;12575935;12583813;14724641;15664191;15851477;15944288;16892053;17097642;17208316;17724343;18294816;18332145;18515281;18547165;19091743;19158341;20332238;20463170;21779496;22569528;22730326;23105109;23481700;24715725;25314968;25418920;25469497;25576301;25597358;26154972;26375851;26992070;27846572;27920218;28218747;28228285;28652251;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;30315122;30458195;30524438;31844290;31889045;31932812;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33691108;33717175;33836029;33912179;33936100;33968037;33981976;34087483;34211107;34433824;34561969;34932366;35051231;35154160;36215666;36241641;38514847;7590752;7681221;8107850", "class_list": "", "function": "Authors report that hypoxia-mediated downregulation of the dual specificity phosphatase 2 (DUSP2) is critical for the accumulation of CSC in colorectal cancer., [RefSeq, PubMed]; Dephosphorylates both phosphorylated Thr and Tyr residues in MAPK1, and dephosphorylation of phosphotyrosine is slightly faster than that of phosphothreonine (PubMed:8107850). Can dephosphorylate MAPK1 (By similarity)., [UniProtKB, PubMed, UniProtKB]; Down-regulation of DUSP2 expression in serous ovarian carcinoma was an independent risk factor for patient survival. Publication Status: Online-Only, [RefSeq, PubMed]; PAC1 is selectively upregulated in exhausted tumor-infiltrating lymphocytes and is associated with poor prognosis of patients with cancer. PAC1(hi) effector T cells lose their proliferative and effector capacities and convert into exhausted T cells., [RefSeq, PubMed]; Retinoblastoma-associated protein is important for TRIM24-mediated activation of the mTOR signaling pathway through DUSP2 action in prostate cancer., [RefSeq, PubMed]; Taken together, our findings for the first time suggested DUSP2 as a progression and prognosis biomarker for bladder cancer., [RefSeq, PubMed]; The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1 and ERK2, is predominantly expressed in hematopoietic tissues, and is localized in the nucleus. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53T45", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" } ], "go_molecular_function": "GO:0051019 mitogen-activated protein kinase binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0004721 phosphoprotein phosphatase activity;GO:0017017 MAP kinase tyrosine/serine/threonine phosphatase activity;GO:0008330 protein tyrosine/threonine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006470 protein dephosphorylation;GO:0001706 endoderm formation", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q05923-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16690-1", "uniprot_id": [ { "id": "DUS5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16690", "type": "external" } ], "mass": 42047.0, "length": 384, "protein_name": "Dual specificity protein phosphatase 5", "gene_name": "DUSP5", "organism": "Human", "refseq_name": "dual specificity protein phosphatase 5", "refseq_ac": [ { "id": "NP_004410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004410", "type": "external" } ], "gene_names_uniprotkb": "DUSP5; VH3", "gene_names_refseq": "DUSP5; DUSP; HVH3", "protein_names_uniprotkb": "Dual specificity protein phosphatase 5; 3.1.3.16; 3.1.3.48; Dual specificity protein phosphatase hVH3", "protein_names_refseq": "VH1-like phosphatase 3; dual specificity protein phosphatase 5; dual specificity protein phosphatase hVH3; serine/threonine specific protein phosphatase", "tax_id": 9606, "disease": "", "pathway": " (hsa:1847); (R-HSA-112409); (R-HSA-5675221)", "pathway_count": 3, "publication_count": 108, "publication_id_list": "10206983;10415025;10490027;10702794;10757792;12583813;12944906;14724641;15664191;15851477;16892053;17078075;17097642;17208316;17724343;18294816;18332145;18515281;18547165;19091743;19158341;19666109;20332238;20463170;21779496;22424782;22569528;22730326;23105109;23481700;23783831;24715725;25314968;25418920;25576301;25597358;25892735;26154972;26375851;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30484775;30779550;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34185709;34211107;34405274;34509645;34932366;35051231;35318648;35580925;36010968;36183924;36215666;36241641;36284347;36526622;37938771;38564084;38724995;7836374;7961985", "class_list": "", "function": "BAF53A drives colorectal cancer development by regulating DUSP5-mediated ERK phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; DUSP5 is a direct target of p53., [RefSeq, PubMed]; Dual specificity protein phosphatase; active with phosphotyrosine, phosphoserine and phosphothreonine residues. The highest relative activity is toward ERK1., [UniProtKB, PubMed]; Epithelial cells derived exosomal miR-203a-3p facilitates stromal inflammation of type IIIA chronic prostatitis/chronic pelvic pain syndrome by targeting DUSP5 and increasing MCP-1 generation. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-203 suppresses pancreatic cancer cell proliferation and migration by modulating DUSP5 expression., [RefSeq, PubMed]; Targeting DUSP5 suppresses malignant phenotypes of BRAF-mutant thyroid cancer cells and improves their response to sorafenib., [RefSeq, PubMed]; The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, is expressed in a variety of tissues with the highest levels in pancreas and brain, and is localized in the nucleus. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q12997;Q5T603", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0004721 phosphoprotein phosphatase activity;GO:0008138 protein tyrosine/serine/threonine phosphatase activity;GO:0017017 MAP kinase tyrosine/serine/threonine phosphatase activity;GO:0016791 phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0016311 dephosphorylation;GO:0035335 peptidyl-tyrosine dephosphorylation;GO:0000165 MAPK cascade;GO:0070371 ERK1 and ERK2 cascade;GO:0006470 protein dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q16690-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5F1R6-1", "uniprot_id": [ { "id": "DJC21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5F1R6", "type": "external" } ], "mass": 62028.0, "length": 531, "protein_name": "DnaJ homolog subfamily C member 21", "gene_name": "DNAJC21", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 21 isoform 2", "refseq_ac": [ { "id": "NP_001012339", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012339", "type": "external" } ], "gene_names_uniprotkb": "DNAJC21; DNAJA5", "gene_names_refseq": "BMFS3; DNAJA5; DNAJC21; GS3; JJJ1", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 21; DnaJ homolog subfamily A member 5; Protein GS3", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 21; DnaJ homology subfamily A member 5; JJJ1 DnaJ domain protein homolog; dnaJ homolog subfamily A member 5; dnaJ homolog subfamily C member 21 isoform 2; dnaJ homolog subfamily C member 21", "tax_id": 9606, "disease": "bone marrow failure syndrome 3 (MONDO:MONDO:0014887)", "pathway": " (hsa:134218)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11237011;15067379;16959974;17081983;18452278;18669648;19651622;19690332;20068231;21406692;21872626;23481700;24275569;24714562;25576301;25880248;26154972;26375851;26728094;26758079;26992070;27346687;27862975;27920218;28062395;28218747;28228285;28832583;28834231;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29700810;29786170;30198570;30315122;30410026;30429286;30524438;30779550;31844290;32157095;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome., [RefSeq, PubMed]; Findings demonstrate that mutations in DNAJC21 cause a cancer-prone bone marrow failure syndrome due to corruption of early nuclear rRNA biogenesis and late cytoplasmic maturation of the 60S subunit, [RefSeq, PubMed]; May act as a co-chaperone for HSP70. May play a role in ribosomal RNA (rRNA) biogenesis, possibly in the maturation of the 60S subunit. Binds the precursor 45S rRNA., [UniProtKB, PubMed]; Molecular cloning, [RefSeq, PubMed]; This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]., [RefSeq]; We suggest that DNAJC21-related diseases constitute a distinct Inherited bone marrow failure syndromes (IBMFS) , with features overlapping Shwachman-Diamond syndrome and Dyskeratosis congenita, and additional characteristics that are specific to DNAJC21 mutations, [RefSeq, PubMed]; Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3B7J9;Q6P086;Q6ZS43;Q86VC6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005840 ribosome", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q5F1R6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P2I7-1", "uniprot_id": [ { "id": "EBLN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P2I7", "type": "external" } ], "mass": 30450.0, "length": 272, "protein_name": "Endogenous Bornavirus-like nucleoprotein 2", "gene_name": "EBLN2", "organism": "Human", "refseq_name": "endogenous Bornavirus-like nucleoprotein 2", "refseq_ac": [ { "id": "NP_060499", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060499", "type": "external" } ], "gene_names_uniprotkb": "EBLN2; GK006", "gene_names_refseq": "EBLN-2; EBLN2", "protein_names_uniprotkb": "Endogenous Bornavirus-like nucleoprotein 2; EBLN-2; Endogenous Borna-like N element-2", "protein_names_refseq": "EBLN-1; endogenous Borna-like N element-1; endogenous Borna-like N element-2; endogenous Bornavirus-like nucleoprotein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55096)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "20054395;33109704;33952640", "class_list": "", "function": "A Human Endogenous Bornavirus-Like Nucleoprotein Encodes a Mitochondrial Protein Associated with Cell Viability., [RefSeq, PubMed]; May act as an RNA-binding protein. The C-terminal region is highly homologous to the bornavirus nucleocapsid N protein that binds viral RNA and oligomerizes. The viral protein also possesses a nuclear import and a nuclear export signal. These 2 signals seem absent in EBLN-2 supporting an unrelated function in Human., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8WWH3;Q9NW89", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q6P2I7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6XUX3-1", "uniprot_id": [ { "id": "DUSTY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6XUX3", "type": "external" } ], "mass": 105206.0, "length": 929, "protein_name": "Dual serine/threonine and tyrosine protein kinase", "gene_name": "DSTYK", "organism": "Human", "refseq_name": "dual serine/threonine and tyrosine protein kinase isoform 1", "refseq_ac": [ { "id": "NP_056190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056190", "type": "external" } ], "gene_names_uniprotkb": "DSTYK; HDCMD38P; KIAA0472; RIP5; RIPK5; SGK496", "gene_names_refseq": "CAKUT1; DSTYK; DustyPK; HDCMD38P; RHDNS1; RIP5; RIPK5; SPG23", "protein_names_uniprotkb": "Dual serine/threonine and tyrosine protein kinase; 2.7.12.1; Dusty PK; Dusty protein kinase; RIP-homologous kinase; Receptor-interacting serine/threonine-protein kinase 5; SgK496; Sugen kinase 496", "protein_names_refseq": "RIP-homologous kinase; dual serine/threonine and tyrosine protein kinase isoform 1; dusty PK; dusty protein kinase; receptor-interacting serine/threonine-protein kinase 5; sgK496; spastic paraplegia 23 (autosomal recessive); sugen kinase 496", "tax_id": 9606, "disease": "congenital anomalies of the kidney and urinary tract (Disease Ontology:DOID:0080205); congenital anomalies of the kidney and urinary tract 1 (Disease Ontology:DOID:0080206); hereditary spastic paraplegia 23 (Disease Ontology:DOID:0110774)", "pathway": " (hsa:25778)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "15178406;17123648;19413330;23862974;25645385;28157540;28832583;29393594;29485866;29557506;29786170;30429286;30620550;31154438;31844290;31848261;32157095;32161166;32387766;32897882;32938616;32983136;33592498;33912179;33968037;34171305;34405274;34509645;34608560;35011659;35051231;35580925;36010968;36169652;36241641;36284347;36555181;37746849", "class_list": "", "function": "Aberrations in FGFR1, FGFR2, and RIP5 Expression in Human Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). Publication Status: Online-Only, [RefSeq, PubMed]; Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation (PubMed:23862974, PubMed:28157540). Involved in the regulation of both caspase-dependent apoptosis and caspase-independent cell death (PubMed:15178406). In the skin, it plays a predominant role in suppressing caspase-dependent apoptosis in response to UV stress in a range of dermal cell types (PubMed:28157540). Involved in normal skeletal segmentation and spine formation, via positively regulating late-stage endosomal trafficking in notochord cells (By similarity). Required for normal spatial learning and memory, independent of normal brain development (By similarity). May be required for normal urinary tract and kidney formation (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB]; Confocal imaging of transiently expressed human Dusty-GFP fusion proteins showed a cytoplasmic distribution., [RefSeq, PubMed]; DSTYK Enhances Chemoresistance in Triple-Negative Breast Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; DSTYK inhibition increases the sensitivity of lung cancer cells to T cell-mediated cytotoxicity., [RefSeq, PubMed]; Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies., [RefSeq, PubMed]; This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7ZL64;O75060;Q17R94;Q5RKT0;Q6IN87;Q6P997;Q86Y03;Q9P1S5", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0004712 protein serine/threonine/tyrosine kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0070161 anchoring junction", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0033674 positive regulation of kinase activity;GO:0044344 cellular response to fibroblast growth factor stimulus;GO:0045743 positive regulation of fibroblast growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q6XUX3-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SG4-1", "uniprot_id": [ { "id": "DPCA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SG4", "type": "external" } ], "mass": 20403.0, "length": 172, "protein_name": "Putative Dresden prostate carcinoma protein 2", "gene_name": "HMGN2P46", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "HMGN2P46; C15orf21", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative Dresden prostate carcinoma protein 2; D-PCa-2; High mobility group nucleosome-binding domain-containing protein 2 pseudogene 46", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "15027122", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q495B5;Q86SH8;Q8N8I5", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q86SG4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86Y01-1", "uniprot_id": [ { "id": "DTX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86Y01", "type": "external" } ], "mass": 67368.0, "length": 620, "protein_name": "E3 ubiquitin-protein ligase DTX1", "gene_name": "DTX1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase DTX1", "refseq_ac": [ { "id": "NP_004407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004407", "type": "external" } ], "gene_names_uniprotkb": "DTX1", "gene_names_refseq": "DTX1; RNF140; hDx-1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase DTX1; 2.3.2.27; Deltex1; Protein deltex-1; RING-type E3 ubiquitin transferase DTX1; hDTX1", "protein_names_refseq": "E3 ubiquitin-protein ligase DTX1; RING-type E3 ubiquitin transferase DTX1; deltex 1, E3 ubiquitin ligase; deltex homolog 1; protein deltex-1", "tax_id": 9606, "disease": "immunodeficiency 54 (Disease Ontology:DOID:0111967)", "pathway": " (hsa:1840); (R-HSA-2122948)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10206645;10879540;10882063;11006133;11226752;11564735;11740940;11869684;12209127;12354787;12530964;12670957;12753744;14567914;15574878;15652348;15760269;15824097;15829515;15965470;16093323;16284625;17003037;17028573;17401372;18043734;18077452;18237417;18296446;18628966;18700817;18824583;18824585;19000840;19151708;19524514;19567869;19726682;21124883;22162134;25000980;26992070;27846572;29242379;29440432;29508533;29557506;29632711;29704870;31313037;31530632;32502341;32700476;32736174;33091337;33936100;34171305;35051231;35561310;8313469;9244301;9315665;9462510;9590294;9604939;9620803;9651681;9819428", "class_list": "", "function": "DTX1 rs1732786 single nucleotide polymorphism is associated with lung Cancer., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates ubiquitination and proteasomal degradation of MEKK1, thereby modulating signaling pathways involved in cell fate determination (By similarity). Regulates the Notch signaling pathway, acting predominantly as a positive regulator but functioning as a context-dependent negative regulator in specific developmental or cellular settings. Mediates the antineural activity of Notch signaling, likely by inhibiting transcriptional activation mediated by MATCH1. Negatively regulates Notch signaling by controlling the activity of PIP4K2C, a lipid kinase that promotes recycling of Notch receptors from RAB4A-positive endosomes to the cell surface (PubMed:29440432). Participates in several developmental and immune processes, including neurogenesis, lymphogenesis, and myogenesis. Influences lymphocyte differentiation by promoting B-cell development at the expense of T-cell development, suggesting functional antagonism of NOTCH1 in this context. Also promotes degradation of PRKCQ via the endosome-lysosome pathway, contributing to PKCtheta downregulation during T-cell anergy (PubMed:25000980). In addition, facilitates differentiation of Th17 cells by inducing expression and DNA-binding activity of RORgT (PubMed:32736174)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Effect of genetic variation in Notch regulator DTX1 on SCLC prognosis compared with the effect on NSCLC prongosis., [RefSeq, PubMed]; Frameshift mutations in DTX1 and NLRC5, two genes involved in immune regulation, were identified in a family with familial pityriasis rubra pilaris., [RefSeq, PubMed]; Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O60630;Q9BS04", "ec_number_list": [ { "id": "3.4.23.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" } ], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0017124 SH3 domain binding;GO:0031625 ubiquitin protein ligase binding;GO:0005112 Notch binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016604 nuclear body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007166 cell surface receptor signaling pathway;GO:0007219 Notch signaling pathway;GO:0045665 negative regulation of neuron differentiation;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q86Y01-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TD57-1", "uniprot_id": [ { "id": "DYH3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TD57", "type": "external" } ], "mass": 470771.0, "length": 4116, "protein_name": "Dynein axonemal heavy chain 3", "gene_name": "DNAH3", "organism": "Human", "refseq_name": "dynein axonemal heavy chain 3 isoform 2", "refseq_ac": [ { "id": "NP_001334815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334815", "type": "external" } ], "gene_names_uniprotkb": "DNAH3; DNAHC3B", "gene_names_refseq": "DNAH3; DNAHC3-B; DNAHC3B; HDHC8; HEL-36; HSADHC3", "protein_names_uniprotkb": "Dynein axonemal heavy chain 3; Axonemal beta dynein heavy chain 3; Ciliary dynein heavy chain 3; Dnahc3-b; HsADHC3", "protein_names_refseq": "axonemal beta dynein heavy chain 3; axonemal dynein, heavy chain; ciliary dynein heavy chain 3; dynein axonemal heavy chain 3 isoform 2; dynein heavy chain 3, axonemal; dynein, axonemal, heavy polypeptide 3; epididymis luminal protein 36", "tax_id": 9606, "disease": "episodic ataxia type 1 (Disease Ontology:DOID:0050989); epilepsy (Disease Ontology:DOID:1826); temporal lobe epilepsy (Disease Ontology:DOID:3328); epilepsy with generalized tonic-clonic seizures (Disease Ontology:DOID:7725)", "pathway": " (hsa:55567)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;16959974;22544926;24714562;24715725;25892735;26992070;28832583;29242379;29351928;29557506;31217245;31844290;32387766;32488085;32502341;32938616;32983136;33392160;33968037;33981976;34509645;35051231;35494241;36010968;38312775;39503742;39588341;9256245;9373155", "class_list": "", "function": "Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). Essential for the assembly and structural organization of the sperm flagellum's axoneme, including its inner dynein arms and accessory components, which are critical for maintaining flagellar integrity and motility (PubMed:39503742, PubMed:38312775)., [UniProtKB, PubMed, UniProtKB, PubMed]; This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 168, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O00437;O15437;O43326;Q3C0H2;Q8WUP9;Q9UEM3;Q9UEM5;Q9UG35", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0003777 microtubule motor activity;GO:0008569 minus-end-directed microtubule motor activity;GO:0051959 dynein light intermediate chain binding;GO:0045505 dynein intermediate chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0036126 sperm flagellum;GO:0005858 axonemal dynein complex;GO:0036156 inner dynein arm", "go_biological_process": "GO:0060294 cilium movement involved in cell motility;GO:0007288 sperm axoneme assembly;GO:0036159 inner dynein arm assembly;GO:0060285 cilium-dependent cell motility;GO:0003341 cilium movement", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8TD57-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWF6-1", "uniprot_id": [ { "id": "DNJB3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWF6", "type": "external" } ], "mass": 16559.0, "length": 145, "protein_name": "DnaJ homolog subfamily B member 3", "gene_name": "DNAJB3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "DNAJB3; HCG3", "gene_names_refseq": "", "protein_names_uniprotkb": "DnaJ homolog subfamily B member 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "18184612", "class_list": "", "function": "May operate as a co-chaperone of the male germ cell- and haploid stage-specific Hsp70 proteins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0030544 Hsp70 protein binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0090084 negative regulation of inclusion body assembly", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8WWF6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92796-1", "uniprot_id": [ { "id": "DLG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92796", "type": "external" } ], "mass": 90314.0, "length": 817, "protein_name": "Disks large homolog 3", "gene_name": "DLG3", "organism": "Human", "refseq_name": "disks large homolog 3 isoform c", "refseq_ac": [ { "id": "NP_001159750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159750", "type": "external" } ], "gene_names_uniprotkb": "DLG3; KIAA1232", "gene_names_refseq": "DLG3; MRX90; MRX; NEDLG; PPP1R82; SAP102; XLID90; XLMR", "protein_names_uniprotkb": "Disks large homolog 3; Neuroendocrine-DLG; SAP-102; SAP102; Synapse-associated protein 102; XLMR", "protein_names_refseq": "discs, large homolog 3; disks large homolog 3 isoform c; disks large homolog 3; neuroendocrine-DLG; protein phosphatase 1, regulatory subunit 82; synapse-associated protein 102", "tax_id": 9606, "disease": "arrhythmogenic right ventricular cardiomyopathy (Disease Ontology:DOID:0050431); non-syndromic X-linked intellectual disability (Disease Ontology:DOID:0050776); sleep apnea (Disease Ontology:DOID:0050847); developmental disorder of mental health (Disease Ontology:DOID:0060037); benign neoplasm (Disease Ontology:DOID:0060072); chromosome 3q29 microdeletion syndrome (Disease Ontology:DOID:0060419); hyper IgE syndrome (Disease Ontology:DOID:0080545); non-syndromic X-linked intellectual disability 90 (Disease Ontology:DOID:0112041); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); Graves' disease (Disease Ontology:DOID:12361); Huntington's disease (Disease Ontology:DOID:12858); uveitis (Disease Ontology:DOID:13141); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); depressive disorder (Disease Ontology:DOID:1596); cancer (Disease Ontology:DOID:162); orchitis (Disease Ontology:DOID:2518); pulmonary tuberculosis (Disease Ontology:DOID:2957); carcinoma (Disease Ontology:DOID:305); kidney disease (Disease Ontology:DOID:557); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1741); (R-HSA-438066); (R-HSA-442982); (R-HSA-447038); (R-HSA-451308); (R-HSA-5673001); (R-HSA-6794361); (R-HSA-8849932); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244)", "pathway_count": 11, "publication_count": 141, "publication_id_list": "10373510;10508167;10725395;10869344;11027663;11090077;11136978;11237011;11313946;11546808;11604393;11702783;12032311;12094235;12121613;12807427;12815021;14506247;14622581;14707138;15185169;15356145;1545823;15540461;15546878;16242404;16495444;16624946;16627759;16630835;16684964;16846852;16959974;1716764;17389395;17855605;17897391;17997397;17998941;18083107;18227064;18775330;18812509;18829961;1898771;19118189;19279408;19342380;19681166;19901323;19920141;20058876;20064387;20064388;20478380;20519524;20600927;21102635;21282647;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23303910;23443682;23575685;24897931;24937142;25219551;25378172;25576301;25645385;25781681;26085527;26154972;26321637;26992070;27846572;28228285;28449373;28778966;28832583;28834231;28904123;29242379;29331515;29557506;29786170;30315122;30590034;30779550;31135801;31154438;31844290;32157095;32357974;32488085;32502341;32938616;33592498;33717175;33912179;33968037;33981976;34171305;34185709;35051231;35318648;35580925;36284347;37938771;38273165;6148751;7569905;7695896;7736595;7809086;7935463;7972015;8052307;8394845;8493579;8576240;8601796;8665852;8710374;8782898;8939933;9069287;9188857;9278515;9604935;9625352;9648857;9808458;9927426;9927700", "class_list": "", "function": "Identification of a DLG3 stop mutation in the MRX20 family., [RefSeq, PubMed]; Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling., [UniProtKB]; This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked cognitive disability. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 26, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4E0H1;D3DVU5;Q5JUW6;Q5JUW7;Q9ULI8", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0031625 ubiquitin protein ligase binding;GO:0019900 kinase binding;GO:0019902 phosphatase binding;GO:0035255 ionotropic glutamate receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005912 adherens junction", "go_biological_process": "GO:0007399 nervous system development;GO:0008285 negative regulation of cell population proliferation;GO:0007268 chemical synaptic transmission;GO:0098609 cell-cell adhesion;GO:0043113 receptor clustering", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "Q92796-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LL9-1", "uniprot_id": [ { "id": "DJC30_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LL9", "type": "external" } ], "mass": 25961.0, "length": 226, "protein_name": "DnaJ homolog subfamily C member 30, mitochondrial", "gene_name": "DNAJC30", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 30, mitochondrial precursor", "refseq_ac": [ { "id": "NP_115693", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115693", "type": "external" } ], "gene_names_uniprotkb": "DNAJC30; WBSCR18", "gene_names_refseq": "DNAJC30; LHONAR1; LHONAR; MC1DN38; WBSCR18", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 30, mitochondrial; Williams-Beuren syndrome chromosomal region 18 protein", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 30; Williams Beuren syndrome chromosome region 18; dnaJ homolog subfamily C member 30, mitochondrial precursor; dnaJ homolog subfamily C member 30, mitochondrial; williams-Beuren syndrome chromosomal region 18 protein", "tax_id": 9606, "disease": "chromosomal deletion syndrome (Disease Ontology:DOID:0060388); Williams-Beuren syndrome (Disease Ontology:DOID:1928); Leber-like hereditary optic neuropathy, autosomal recessive 1 (MONDO:MONDO:0958183)", "pathway": " (hsa:84277)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "12073013;20877624;22028470;26375851;26992070;28832583;29242379;29493099;31844290;33465056;33912179;35091433;35580925;36939934;37579815;38139324", "class_list": "", "function": "Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome., [RefSeq, PubMed]; Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene., [RefSeq, PubMed]; DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients. Publication Status: Online-Only, [RefSeq, PubMed]; DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy., [RefSeq, PubMed]; Mitochondrial protein enriched in neurons that acts as a regulator of mitochondrial respiration (By similarity). Associates with the ATP synthase complex and facilitates ATP synthesis (By similarity). May be a chaperone protein involved in the turnover of the subunits of mitochondrial complex I N-module. It facilitates the degradation of N-module subunits damaged by oxidative stress, and contributes to complex I functional efficiency (PubMed:33465056)., [UniProtKB, PubMed, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BSG8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006754 ATP biosynthetic process;GO:0007420 brain development;GO:1905706 regulation of mitochondrial ATP synthesis coupled proton transport", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96LL9-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4B8-1", "uniprot_id": [ { "id": "DPEP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4B8", "type": "external" } ], "mass": 53687.0, "length": 488, "protein_name": "Dipeptidase 3", "gene_name": "DPEP3", "organism": "Human", "refseq_name": "dipeptidase 3 isoform c precursor", "refseq_ac": [ { "id": "NP_001357127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001357127", "type": "external" } ], "gene_names_uniprotkb": "DPEP3; PRO1772", "gene_names_refseq": "DPEP3; MBD3", "protein_names_uniprotkb": "Dipeptidase 3", "protein_names_refseq": "dipeptidase 3 isoform c precursor; membrane-bound dipeptidase 3; metallopeptidase (family M19); testis secretory sperm-binding protein Li 211a", "tax_id": 9606, "disease": "", "pathway": " (hsa:64180)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12738806;12975309;32325220;32938616;32983136;35051231;35580925", "class_list": "", "function": "Lacks dipeptidase activity and is unable to hydrolyze cystinyl-bis-glycine, leukotriene D4 and the beta-lactam antibiotic imipenem (PubMed:32325220). The absence of activity may be due to the inability of asparagine (instead of aspartate found in DPEP1/2) at position 359 to function as the acid/base catalyst and activate the nucleophilic water/hydroxide (PubMed:32325220). A tyrosine (instead of histidine) at position 269 reduces affinity for the beta zinc and may cause substrate steric hindrance (PubMed:32325220)., [UniProtKB, PubMed]; This gene encodes a membrane-bound glycoprotein from the family of dipeptidases involved in hydrolytic metabolism of various dipeptides, including penem and carbapenem beta-lactam antibiotics. This gene is located on chromosome 16 in a cluster with another member of this family. Alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; This paper describes differences in substrate specificity and tissue distribution of membrane-bound dipeptidase 3 from mouse in comparison to other mouse members of this family., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KQ48;Q6PEZ5;Q6UXE4", "ec_number_list": [], "go_molecular_function": "GO:0016805 dipeptidase activity;GO:0070573 metallodipeptidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0001669 acrosomal vesicle;GO:0098552 side of membrane", "go_biological_process": "GO:0006508 proteolysis;GO:1901749 leukotriene D4 catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9H4B8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H7Y0-1", "uniprot_id": [ { "id": "DIK2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H7Y0", "type": "external" } ], "mass": 48555.0, "length": 433, "protein_name": "Divergent protein kinase domain 2B", "gene_name": "DIPK2B", "organism": "Human", "refseq_name": "divergent protein kinase domain 2B isoform 2 precursor", "refseq_ac": [ { "id": "NP_078965", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078965", "type": "external" } ], "gene_names_uniprotkb": "DIPK2B; CXorf36; DIA1R; PRO3743", "gene_names_refseq": "4930578C19Rik; CXorf36; DIA1R; DIPK2B; EPQL1862; PRO3743; bA435K1.1", "protein_names_uniprotkb": "Divergent protein kinase domain 2B; Deleted in autism-related protein 1", "protein_names_refseq": "UPF0672 protein CXorf36; deleted in autism-1 related protein; deleted in autism-related protein 1; divergent protein kinase domain 2B isoform 2 precursor; hCG1981635", "tax_id": 9606, "disease": "", "pathway": " (hsa:79742)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "12975309;21264219;28832583;29242379;29393594;29557506;31154438;31844290;33392160;33592498;35051231;36010968", "class_list": "", "function": "Results support a model where the DIA1 and DIA1R regulate molecular traffic through the cellular secretory pathway or affect the function of secreted factors, and functional deficits cause disorders with ASD-like symptoms and/or mental retardation Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MUU5;B2RPN7;Q6UWJ5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9H7Y0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAF1-1", "uniprot_id": [ { "id": "EAF6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAF1", "type": "external" } ], "mass": 21635.0, "length": 191, "protein_name": "Chromatin modification-related protein MEAF6", "gene_name": "MEAF6", "organism": "Human", "refseq_name": "chromatin modification-related protein MEAF6 isoform 2", "refseq_ac": [ { "id": "NP_001257804", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257804", "type": "external" } ], "gene_names_uniprotkb": "MEAF6; C1orf149; CENP-28; EAF6", "gene_names_refseq": "C1orf149; CENP-28; EAF6; MEAF6; NY-SAR-91", "protein_names_uniprotkb": "Chromatin modification-related protein MEAF6; Esa1-associated factor 6 homolog; MYST/Esa1-associated factor 6; Protein EAF6 homolog; Sarcoma antigen NY-SAR-91; hEAF6", "protein_names_refseq": "Esa1p-associated factor 6 homolog; centromere protein 28; chromatin modification-related protein MEAF6 isoform 2; chromatin modification-related protein MEAF6; protein EAF6 homolog; sarcoma antigen NY-SAR-91", "tax_id": 9606, "disease": "", "pathway": " (hsa:64769); (R-HSA-3214847); (R-HSA-6804758)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10786633;10821277;11099047;11237011;12601173;12963728;14966270;15313887;15647280;16387653;16839880;17525332;18381289;18623064;18669648;18794358;19187765;19608861;20018852;20228809;20660729;20813266;22761769;23431171;24065767;24714562;24715725;25114211;25218447;25576301;25755297;26728094;26992070;27920218;29393594;29508533;29557506;30315122;31844290;31848261;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33592498;34087483;34932366;35074616;35580925;36241641;37217939;9427644;9558366;9880483", "class_list": "", "function": "Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A (PubMed:14966270). This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription (PubMed:14966270). Component of HBO1 complexes, which specifically mediate acetylation of histone H3 at 'Lys-14' (H3K14ac), and have reduced activity toward histone H4 (PubMed:16387653, PubMed:24065767). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:18794358)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; MiR-197-3p reduces bortezomib resistance in multiple myeloma by inhibiting IL-6 expression in a MEAF6-dependent manner., [RefSeq, PubMed]; This gene encodes a nuclear protein involved in transcriptional activation. The encoded protein may form a component of several different histone acetyltransferase complexes. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AK64;Q4F967;Q7Z311;Q86WE3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0035267 NuA4 histone acetyltransferase complex;GO:0000776 kinetochore", "go_biological_process": "GO:0050793 regulation of developmental process;GO:2000278 regulation of DNA biosynthetic process;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9HAF1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P104-1", "uniprot_id": [ { "id": "DOK5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P104", "type": "external" } ], "mass": 35464.0, "length": 306, "protein_name": "Docking protein 5", "gene_name": "DOK5", "organism": "Human", "refseq_name": "docking protein 5 isoform a", "refseq_ac": [ { "id": "NP_060901", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060901", "type": "external" } ], "gene_names_uniprotkb": "DOK5; C20orf180", "gene_names_refseq": "C20orf180; DOK5; IRS-6; IRS6", "protein_names_uniprotkb": "Docking protein 5; Downstream of tyrosine kinase 5; IRS-6; IRS6; Insulin receptor substrate 6", "protein_names_refseq": "docking protein 5 isoform a; downstream of tyrosine kinase 5; insulin receptor substrate 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:55816); (R-HSA-8853659)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10448070;10995764;11000521;11002419;11237712;11360177;11390647;11470823;11491658;11886862;12242309;12454490;12595900;12730241;12771945;14766744;15044950;15286081;15569713;24551065;26992070;29557506;31154438;35036444;35051231;35234166;7665556;8628282;8631863;8637703;8662982;8663426;8674117;9047384;9192684;9299438;9407096;9491986;9764818;9883723", "class_list": "", "function": "DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK5 functions in RET-mediated neurite outgrowth and plays a positive role in activation of the MAP kinase pathway. Putative link with downstream effectors of RET in neuronal differentiation., [UniProtKB]; DOK5 as a Prognostic Biomarker of Gastric Cancer Immunoinvasion: A Bioinformatics Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; DOK5 expression in human T cells, its genomic structure characterized, and its regulation upon T cell activation has been demonstrated., [RefSeq, PubMed]; Dok5 regulates proliferation and differentiation of osteoblast via canonical Wnt/beta-catenin signaling., [RefSeq, PubMed]; IGFBP-5 induces its pro-fibrotic effects, at least in part, via DOK5. IGFBP-5 and DOK5 are both increased in systemic sclerosis fibroblasts and tissues and may thus be acting in concert to promote fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; IRS5/DOK4 and IRS6/DOK5 represent two new signaling proteins with potential roles in insulin and IGF-1 action, [RefSeq, PubMed]; The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This protein is up-regulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like growth factor binding protein 5. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T7Y0;Q5TE53;Q8TEW7;Q96H13;Q9BZ24;Q9NQF4;Q9Y411", "ec_number_list": [], "go_molecular_function": "GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0051386 regulation of neurotrophin TRK receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9P104-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3R5-1", "uniprot_id": [ { "id": "DOP1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3R5", "type": "external" } ], "mass": 258230.0, "length": 2298, "protein_name": "Protein DOP1B", "gene_name": "DOP1B", "organism": "Human", "refseq_name": "protein DOP1B", "refseq_ac": [ { "id": "NP_001307643", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307643", "type": "external" } ], "gene_names_uniprotkb": "DOP1B; C21orf5; DOPEY2; KIAA0933", "gene_names_refseq": "21orf5; C21orf5; DOP1B; DOPEY2", "protein_names_uniprotkb": "Protein DOP1B", "protein_names_refseq": "dopey family member 2; homolog of yeast DOP1; protein DOP1B; protein dopey-2", "tax_id": 9606, "disease": "Down syndrome (Disease Ontology:DOID:14250)", "pathway": " (hsa:9980)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "10931277;10950924;11237011;12767918;16276086;17924679;19460634;24715725;25576301;25645385;26154972;26992070;27600516;27862975;27920218;28228285;28411811;28514659;28832583;28834231;28904123;29242379;29557506;29632046;29632711;29786170;29789417;30213940;30315122;30410026;30429286;30484775;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33273802;33298915;33392160;33592498;33912179;33968037;34087483;34171305;34509645;35051231;35318648;35494241;35580925;36010968;36215666;36241641;36284347", "class_list": "", "function": "A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family. Publication Status: Online-Only, [RefSeq, PubMed]; An evolutionary conserved MON2:DOPEY2:ATP9A complex is required for SNX3 retromer mediation of Wntless sorting and Wnt secretion Publication Status: Online-Only, [RefSeq, PubMed]; C21orf5 selective expression in the key brain structures for learning and memory suggests that C21orf5 overexpression could participate in mental retardation pathogenesis in Down syndrome patients. Erratum:[Cytogenet Genome Res. 2006;112(3-4):226], [RefSeq, PubMed]; May play a role in regulating membrane trafficking of cargo proteins. Together with ATP9A and MON2, regulates SNX3 retromer-mediated endosomal sorting of WLS away from lysosomal degradation., [UniProtKB, PubMed]; Results quantify and statistically analyze, for the first time, DOPEY2 expression variations in different regions of the Down syndrome human fetal brains and to compare them to corresponding normal brains., [RefSeq, PubMed]; The differentially expressed C21orf5 gene in the medial temporal-lobe system could play a role in Down syndrome. Erratum:[Biochem Biophys Res Commun. 2003 Aug 1;307(3):758], [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DSG5;Q6PJQ7;Q9UEZ3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0015031 protein transport;GO:0050890 cognition;GO:0006895 Golgi to endosome transport;GO:0007029 endoplasmic reticulum organization;GO:0009880 embryonic pattern specification", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9Y3R5-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "H0Y354-1", "uniprot_id": [ { "id": "FA72C_HUMAN", "url": "https://www.uniprot.org/uniprot/H0Y354", "type": "external" } ], "mass": 16730.0, "length": 149, "protein_name": "Protein FAM72C", "gene_name": "FAM72C", "organism": "Human", "refseq_name": "protein FAM72C isoform 1", "refseq_ac": [ { "id": "NP_001274314", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274314", "type": "external" } ], "gene_names_uniprotkb": "FAM72C", "gene_names_refseq": "FAM72C", "protein_names_uniprotkb": "Protein FAM72C", "protein_names_refseq": "RP5-998N21.9; protein FAM72C isoform 1; protein FAM72C", "tax_id": 9606, "disease": "", "pathway": " (hsa:554282)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;22898188;25418920;26206078;27600516;32387766;33141586", "class_list": "", "function": "An epistemological characterization of the human tumorigenic neuronal paralogous FAM72 gene loci (FAM72A, FAM72B, FAM72C, FAM72D)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "H0Y354-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GTK5-1", "uniprot_id": [ { "id": "F236D_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GTK5", "type": "external" } ], "mass": 8682.0, "length": 79, "protein_name": "Protein FAM236D", "gene_name": "FAM236D", "organism": "Human", "refseq_name": "protein FAM236D isoform 1", "refseq_ac": [ { "id": "NP_001335132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335132", "type": "external" } ], "gene_names_uniprotkb": "FAM236D; 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protein FAM171A2", "tax_id": 9606, "disease": "", "pathway": " (hsa:284069)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19349973;23090970;23186163;23481700;24190977;24715725;28228285;28832583;29393594;29557506;29632046;29741879;30524438;31844290;32265295;32350084;32357974;32387766;32488085;32938616;33087363;33298915;33592498;34087483;34211107;34357683;35051231;35251023;36010968", "class_list": "", "function": "The FAM171A2 gene is a key regulator of progranulin expression and modifies the risk of multiple neurodegenerative diseases. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8MQB4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "A8MVW0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9JC47-1", "uniprot_id": [ { "id": "F157A_HUMAN", "url": "https://www.uniprot.org/uniprot/C9JC47", "type": "external" } ], "mass": 42896.0, "length": 383, "protein_name": "Putative protein FAM157A", "gene_name": "FAM157A", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM157A", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein FAM157A", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "C9JC47-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15540-1", "uniprot_id": [ { "id": "FABP7_HUMAN", "url": "https://www.uniprot.org/uniprot/O15540", "type": "external" } ], "mass": 14889.0, "length": 132, "protein_name": "Fatty acid-binding protein, brain", "gene_name": "FABP7", "organism": "Human", "refseq_name": "fatty acid-binding protein, brain isoform 2", "refseq_ac": [ { "id": "NP_001305968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305968", "type": "external" } ], "gene_names_uniprotkb": "FABP7; BLBP; FABPB; MRG", "gene_names_refseq": "B-FABP; BLBP; FABP7; FABPB; MRG", "protein_names_uniprotkb": "Fatty acid-binding protein, brain; B-FABP; BLBP; Brain lipid-binding protein; Brain-type fatty acid-binding protein; Fatty acid-binding protein 7; Mammary-derived growth inhibitor related", "protein_names_refseq": "brain lipid-binding protein; brain-type fatty acid-binding protein; fatty acid-binding protein, brain isoform 2; hypothetical protein DKFZp547J2313; mammary-derived growth inhibitor-related", "tax_id": 9606, "disease": "opioid abuse (Disease Ontology:DOID:11206); glioblastoma (Disease Ontology:DOID:3068)", "pathway": " (hsa:2173); (R-HSA-163560); (R-HSA-9013508)", "pathway_count": 3, "publication_count": 30, "publication_id_list": "10671541;10854433;10964718;11866432;12386158;12479569;12832420;15364929;15456755;16741517;17603008;18974129;19181555;21504868;22396495;25114248;25417103;27749937;27841855;29308320;29557506;30568303;31844290;36284347;36325660;36794762;37499046;37688656;9375786;9591779", "class_list": "", "function": "B-FABP could be involved in the transport of a so far unknown hydrophobic ligand with potential morphogenic activity during CNS development. It is required for the establishment of the radial glial fiber system in developing brain, a system that is necessary for the migration of immature neurons to establish cortical layers (By similarity)., [UniProtKB]; FABP7 drives an inflammatory response in human astrocytes and is upregulated in Alzheimer's disease., [RefSeq, PubMed]; Identified 98 transposable element-FABP7 gene chimeric transcripts that were exclusively expressed in primary diffuse large B-cell lymphoma (DLBCL) cases and confirmed several in DLBCL-derived cell lines Erratum:[Proc Natl Acad Sci U S A. 2015 Aug 18;112(33):E4630. doi: 10.1073/pnas.1512789112. PMID: 26159417], [RefSeq, PubMed]; Oleic acid-bound FABP7 drives glioma cell proliferation through regulation of nuclear lipid droplet formation., [RefSeq, PubMed]; Stationary-to-migratory transition in glioblastoma stem-like cells driven by a fatty acid-binding protein 7-RXRalpha neurogenic pathway., [RefSeq, PubMed]; The HOPX and BLBP landscape and gliogenic regions in developing human brain., [RefSeq, PubMed]; The gene encodes a small, highly conserved cytoplasmic protein that bind long-chain fatty acids and other hydrophobic ligands. The encoded protein is important in the establishment of the radial glial fiber in the developing brain. Alternative splicing and promoter usage results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4L1;O14951;Q6IAU7;Q9H047", "ec_number_list": [], "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0005504 fatty acid binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0007399 nervous system development;GO:0008285 negative regulation of cell population proliferation;GO:0015908 fatty acid transport;GO:0019433 triglyceride catabolic process;GO:0050673 epithelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "O15540-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75844-1", "uniprot_id": [ { "id": "FACE1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75844", "type": "external" } ], "mass": 54813.0, "length": 475, "protein_name": "CAAX prenyl protease 1 homolog", "gene_name": "ZMPSTE24", "organism": "Human", "refseq_name": "CAAX prenyl protease 1 homolog", "refseq_ac": [ { "id": "NP_005848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005848", "type": "external" } ], "gene_names_uniprotkb": "ZMPSTE24; FACE1; STE24", "gene_names_refseq": "FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24; Ste24p; ZMPSTE24", "protein_names_uniprotkb": "CAAX prenyl protease 1 homolog; 3.4.24.84; FACE-1; Farnesylated proteins-converting enzyme 1; Prenyl protein-specific endoprotease 1; Zinc metalloproteinase Ste24 homolog", "protein_names_refseq": "CAAX prenyl protease 1 homolog; farnesylated proteins-converting enzyme 1; prenyl protein-specific endoprotease 1; zinc metallopeptidase STE24 homolog; zinc metalloproteinase Ste24 homolog", "tax_id": 9606, "disease": "familial partial lipodystrophy (Disease Ontology:DOID:0050440); restrictive dermopathy (Disease Ontology:DOID:0060762); restrictive dermopathy 1 (Disease Ontology:DOID:0070369); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); mandibuloacral dysplasia type B lipodystrophy (Disease Ontology:DOID:0081129); Emery-Dreifuss muscular dystrophy (Disease Ontology:DOID:11726); progeria (Disease Ontology:DOID:3911); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:10269)", "pathway_count": 1, "publication_count": 96, "publication_id_list": "10076063;10373325;11237011;12913070;15317753;15671064;16303743;17152860;18435794;18452278;18669648;20814950;23539603;24714562;25418920;25576301;25645385;25892735;26154972;26375851;26728094;26992070;27397612;27452731;27600516;27846572;27862975;27920218;28169297;28218747;28228285;28246125;28446606;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30429286;31092671;31154438;31530632;31611695;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33293369;33298915;33315887;33392160;33537174;33592498;33912179;33936100;33968037;34087483;34171305;34357683;34509645;34561969;34725712;35051231;35154160;35283811;35561310;35580925;36197088;36241641;36284347;36581221;37270786;37885131;37938771;38665916;39302247;9700155", "class_list": "", "function": "A premature termination codon mutation in the gene ZMPSTE24 leads to loss of expression of Lamin A as well as abnormal patterns of nuclear sizes and shapes., [RefSeq, PubMed]; Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons., [RefSeq, PubMed]; Prelamin A and ZMPSTE24 in premature and physiological aging. Review article, [RefSeq, PubMed]; Proteolytically removes the C-terminal three residues of farnesylated proteins., [UniProtKB, UniProtKB]; RNA interference of FACE1 protease results in a halt of cell division and accumulation of prelamin A., [RefSeq, PubMed]; The Integral Membrane Protein ZMPSTE24 Protects Cells from SARS-CoV-2 Spike-Mediated Pseudovirus Infection and Syncytia Formation., [RefSeq, PubMed]; This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]., [RefSeq]; Transmembrane metalloprotease whose catalytic activity is critical for processing lamin A/LMNA on the inner nuclear membrane and clearing clogged translocons on the endoplasmic reticulum (PubMed:33293369, PubMed:33315887). Proteolytically removes the C-terminal three residues of farnesylated proteins (PubMed:33293369, PubMed:33315887). Also plays an antiviral role independently of its protease activity by restricting enveloped RNA and DNA viruses, including influenza A, Zika, Ebola, Sindbis, vesicular stomatitis, cowpox, and vaccinia (PubMed:28169297, PubMed:28246125). Mechanistically, controls IFITM antiviral pathway to hinder viruses from breaching the endosomal barrier by modulating membrane fluidity (PubMed:35283811)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQI7;D3DPU7;Q8NDZ8;Q9UBQ2", "ec_number_list": [], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0003690 double-stranded DNA binding;GO:0008235 metalloexopeptidase activity", "go_cellular_component": "GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane;GO:0031902 late endosome membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0071586 CAAX-box protein processing;GO:0006508 proteolysis;GO:0006998 nuclear envelope organization;GO:0051604 protein maturation;GO:0050688 regulation of defense response to virus", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "O75844-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00740-1", "uniprot_id": [ { "id": "FA9_HUMAN", "url": "https://www.uniprot.org/uniprot/P00740", "type": "external" } ], "mass": 51778.0, "length": 461, "protein_name": "Coagulation factor IX", "gene_name": "F9", "organism": "Human", "refseq_name": "coagulation factor IX isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_000124", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000124", "type": "external" } ], "gene_names_uniprotkb": "F9", "gene_names_refseq": "F9 p22; F9; FIX; HEMB; P19; PTC; THPH8", "protein_names_uniprotkb": "Coagulation factor IX; 3.4.21.22; Christmas factor; PTC; Plasma thromboplastin component", "protein_names_refseq": "Christmas factor; coagulation factor IX isoform 1 preproprotein; factor 9; factor IX F9; plasma thromboplastic component; plasma thromboplastin component", "tax_id": 9606, "disease": "X-linked warfarin sensitivity (Disease Ontology:DOID:0080839); X-linked thrombophilia due to factor IX defect (Disease Ontology:DOID:0111899); hemophilia B (Disease Ontology:DOID:12259); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2158); (R-HSA-159740); (R-HSA-159763); (R-HSA-159782); (R-HSA-9629569); (R-HSA-9672383); (R-HSA-9672396); (R-HSA-9673202); (R-HSA-9673218); (R-HSA-9673221); (R-HSA-9673240); (R-HSA-9769735); (R-HSA-9769739); (R-HSA-9769743); (R-HSA-9935598)", "pathway_count": 15, "publication_count": 254, "publication_id_list": "10.1021/acs.analchem.6b02887;10026158;10068650;10094553;10391209;10467148;10468875;10692472;10698280;10917896;10920251;11035113;11122099;11133752;11238108;11252894;11342438;11513608;11833835;12052963;12091341;12444082;12588353;12604421;12907439;12944405;1304885;1346077;1346975;1378441;14722079;14982929;1517205;15219198;15676025;1615485;16161994;1618828;16324888;1634040;16619025;1680287;1730085;17506785;17598008;17635713;17947579;1854745;1856229;1874730;1902289;1902833;19297154;1930190;19574390;1958666;19819225;19846852;1998667;20004170;20080729;20121197;20121198;2019570;2040636;20427285;20684070;2104832;2105717;21060799;2110473;21107324;2129367;2162822;21932952;22144186;2248955;22618708;22618954;22652793;2271516;22786881;22851697;22961984;23006890;23021219;2303434;2306516;23103944;23303181;2339358;23621622;23683607;2372509;2384594;23994528;24100311;24486019;24550447;24550462;24550463;24554904;2472424;2502206;2505252;2511201;25251685;2538457;25456591;25470321;25713144;25728928;25753038;25855704;2592373;26023895;26473492;2664828;26992070;2704749;2713493;2714791;271951;27227676;2738071;2743975;2752109;2753873;2762170;2773937;2775660;2788012;28007939;28035807;28196793;29223926;2929599;29314611;29419409;29437578;29450643;29557506;29563586;29914368;29915238;2994716;29993188;3009023;3017409;30459171;3052293;3082357;30918026;31003762;31102861;31262782;3129422;3134349;31439947;32157095;3243764;3262389;3275472;33397811;3340835;3392024;33968037;3401602;34502392;3524673;3527261;35580925;3667614;36787808;36951953;37210691;3733688;3744129;37678545;37726033;3790720;37925034;3857619;3863104;39135443;3965513;39880037;588558;6089357;6323392;6329734;6334516;6425296;6438527;659613;6603618;6687940;6688526;6959130;6967872;6980899;7499257;7528527;7547952;7606779;7713897;7727775;7756647;7803238;7937052;7981722;8076946;8144529;8148489;8172892;8199596;8236150;8257988;8295821;8329384;8336730;8338946;8392713;8463288;8473289;8530480;8578528;8598903;8626656;8639673;8639781;8663165;8680410;8747521;8833911;893417;9047312;9100030;9169594;9218519;9222764;9226169;9233593;9427707;9452115;9459334;9469622;9590153;9600455;9607108;9774404;9786161;9834200;9888880", "class_list": "", "function": "An updated interactive database for 1692 genetic variants in coagulation factor IX provides detailed insights into hemophilia B., [RefSeq, PubMed]; Crippling down factor IX for therapeutic gain. Review article, [RefSeq, PubMed]; Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa (PubMed:8295821, PubMed:2592373, PubMed:20121197, PubMed:20121198, PubMed:1730085, PubMed:19846852, PubMed:39880037)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structural and functional exploration of three newly identified coagulation factor IX mutations in Chinese hemophilia B patients., [RefSeq, PubMed]; Study on the Mutation of F Gene in 31 Patients with Type B Hemophilia., [RefSeq, PubMed]; This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 6, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 38, "disease_count": 4, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A8K9N4;F2RM36;Q5FBE1;Q5JYJ8", "ec_number_list": [ { "id": "3.4.21.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.22", "type": "external" }, { "id": "3.4.21.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.6", "type": "external" }, { "id": "3.4.21.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.27", "type": "external" }, { "id": "3.4.21.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.34", "type": "external" }, { "id": "3.4.21.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.21", "type": "external" }, { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "4.1.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.90", "type": "external" }, { "id": "1.14.11.16", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.16", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0046872 metal ion binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007596 blood coagulation;GO:0031638 zymogen activation", "synthesized_glycan_count": 0, "hit_score": 30.2, "record_id": "P00740-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C2L3-1", "uniprot_id": [ { "id": "F163B_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C2L3", "type": "external" } ], "mass": 18190.0, "length": 166, "protein_name": "Protein FAM163B", "gene_name": "FAM163B", "organism": "Human", "refseq_name": "protein FAM163B", "refseq_ac": [ { "id": "NP_001073984", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073984", "type": "external" } ], "gene_names_uniprotkb": "FAM163B; C9orf166", "gene_names_refseq": "C9orf166; FAM163B", "protein_names_uniprotkb": "Protein FAM163B", "protein_names_refseq": "cebelin-like; protein FAM163B", "tax_id": 9606, "disease": "", "pathway": " (hsa:642968)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "24714562;33392160;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, 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"id": "FA87A_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7U9", "type": "external" } ], "mass": 31739.0, "length": 286, "protein_name": "Protein FAM87A", "gene_name": "FAM87A", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM87A", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein FAM87A", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "34509645", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, 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"uniprot_canonical_ac": "P0CG42-1", "uniprot_id": [ { "id": "F157B_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG42", "type": "external" } ], "mass": 43129.0, "length": 384, "protein_name": "Putative protein FAM157B", "gene_name": "FAM157B", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM157B", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein FAM157B", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "26992070", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, 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"0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P34910-1", "uniprot_id": [ { "id": "EVI2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P34910", "type": "external" } ], "mass": 48666.0, "length": 448, "protein_name": "Protein EVI2B", "gene_name": "EVI2B", "organism": "Human", "refseq_name": "protein EVI2B precursor", "refseq_ac": [ { "id": "NP_006486", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006486", "type": "external" } ], "gene_names_uniprotkb": "EVI2B; EVDB", "gene_names_refseq": "CD361; D17S376; EVDB; EVI2B", "protein_names_uniprotkb": "Protein EVI2B; EVI-2B; Ecotropic viral integration site 2B protein homolog", "protein_names_refseq": "EVI-2B; ecotropic viral integration site 2B protein homolog; protein EVI2B precursor; protein EVI2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:2124)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10.1038/emboj.2013.79;1903357;20166139;21850230;23186163;23584533;24715725;28186500;28832583;29242379;29557506;29632711;30429286;30459171;31154438;31611695;31844290;31848261;32350084;32502341;32983136;33123756;33968037;34932366;35051231;35154160;35251023;35580925;37217939;37584733;37843407", "class_list": "", "function": "Assessment of Ecotropic Viral Integration Site 2B (EVI2B) Gene in Juvenile Myelomonocytic Leukemia and Neurofibromatosis Type 1 NF1 Tumors., [RefSeq, PubMed]; EVI2B is significantly downregulated in human acute myeloid leukemia samples characterized by defects in CEBPA. Erratum:[Cell Death Differ. 2019 Jan;26(1):198. doi: 10.1038/s41418-018-0146-z. PMID: 29991745], [RefSeq, PubMed]; EVI2B may be a novel prognostic marker for lung adenocarcinoma., [RefSeq, PubMed]; Required for granulocyte differentiation and functionality of hematopoietic progenitor cells through the control of cell cycle progression and survival of hematopoietic progenitor cells., [UniProtKB, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 3, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B7Z4A7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0030854 positive regulation of granulocyte differentiation;GO:0043066 negative regulation of apoptotic process;GO:0061515 myeloid cell development;GO:2000035 regulation of stem cell division;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P34910-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0Z7S8-1", "uniprot_id": [ { "id": "FABP9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0Z7S8", "type": "external" } ], "mass": 15093.0, "length": 132, "protein_name": "Fatty acid-binding protein 9", "gene_name": "FABP9", "organism": "Human", "refseq_name": "fatty acid-binding protein 9", "refseq_ac": [ { "id": "NP_001073995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073995", "type": "external" } ], "gene_names_uniprotkb": "FABP9", "gene_names_refseq": "FABP9; PERF15; PERF; T-FABP; TLBP", "protein_names_uniprotkb": "Fatty acid-binding protein 9; T-FABP; TLBP; Testis lipid-binding protein; Testis-type fatty acid-binding protein", "protein_names_refseq": "fatty acid binding protein 9, testis; fatty acid-binding protein 9; testis lipid binding protein; testis-type fatty acid-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:646480); (R-HSA-163560)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "10671541;12832420;15364929;15456755;16741517;17603008;19181555;21504868;27779102", "class_list": "", "function": "FABP9 is a valuable prognostic marker to predict the outcomes of prostate cancer patients, perhaps by playing an important role in prostate cancer cell invasion., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0036041 long-chain fatty acid binding;GO:0005319 lipid transporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0019433 triglyceride catabolic process;GO:0015909 long-chain fatty acid transport", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q0Z7S8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q76N89-1", "uniprot_id": [ { "id": "HECW1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q76N89", "type": "external" } ], "mass": 179554.0, "length": 1606, "protein_name": "E3 ubiquitin-protein ligase HECW1", "gene_name": "HECW1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase HECW1 isoform b", "refseq_ac": [ { "id": "NP_001273988", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273988", "type": "external" } ], "gene_names_uniprotkb": "HECW1; KIAA0322; NEDL1", "gene_names_refseq": "HECW1; NEDL1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase HECW1; 2.3.2.26; HECT, C2 and WW domain-containing protein 1; HECT-type E3 ubiquitin transferase HECW1; NEDD4-like E3 ubiquitin-protein ligase 1; hNEDL1", "protein_names_refseq": "E3 ubiquitin-protein ligase HECW1 isoform b; E3 ubiquitin-protein ligase HECW1; HECT type E3 ubiquitin ligase; HECT-type E3 ubiquitin transferase HECW1; NEDD4-like ubiquitin-protein ligase 1", "tax_id": 9606, "disease": "Liddle syndrome (Disease Ontology:DOID:0050477)", "pathway": " (hsa:23072); (R-HSA-4641258)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "11237011;11970895;14684739;16446366;16547521;18223681;20976258;21108931;21283621;25576301;26024233;27846572;28904123;29351928;29437277;29557506;31844290;32157095;32357974;32502341;32938616;33529121;33592498;33912179;34171305;34348693;34357683;35051231;35580925;36010968;36674783;37217939;38049396", "class_list": "", "function": "E3 ubiquitin ligase HECW1 promotes the metastasis of non-small cell lung cancer cells through mediating the ubiquitination of Smad4., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS., [UniProtKB, PubMed]; Functional interaction of NEDL1 with p53 might contribute to the induction of apoptosis in cancerous cells bearing wild-type p53., [RefSeq, PubMed]; HECW1 induces NCOA4-regulated ferroptosis in glioma through the ubiquitination and degradation of ZNF350. Publication Status: Online-Only, [RefSeq, PubMed]; Integrating HECW1 expression into the clinical indicators exhibits high accuracy in assessing the prognosis of patients with clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Interaction among misfolded SOD1, NEDL1, translocon-associated protein-delta, and Dishevelled-1 forms a ubiquitinated protein complex that is included in potentially cytotoxic protein aggregates, [RefSeq, PubMed]; Ndel1 regulates Dyn2 GTPase activity and impacts GluR1-containing membranes distribution in a manner reminiscent of Dyn2. Publication Status: Online-Only, [RefSeq, PubMed]; Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1. Publication Status: Online-Only, [RefSeq, PubMed]; These findings suggest that RNF43 is associated with p53-mediated apoptosis in collaboration with NEDL1 in colorectal carcinogenesis., [RefSeq, PubMed]; These findings suggest that the human NEDL1 transgenic mice might develop Amyotrophic lateral sclerosis-like symptoms, showing signs of motor abnormalities, accompanied with significant reduction in muscle strength., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 75, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A7E2X0;A8MYS3;B4DH42;O15036;Q9HCC7", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" } ], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0048814 regulation of dendrite morphogenesis;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q76N89-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969W3-1", "uniprot_id": [ { "id": "VCF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969W3", "type": "external" } ], "mass": 19484.0, "length": 186, "protein_name": "Protein VCF1", "gene_name": "VCF1", "organism": "Human", "refseq_name": "protein VCF1 isoform 4", "refseq_ac": [ { "id": "NP_001276340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276340", "type": "external" } ], "gene_names_uniprotkb": "VCF1; FAM104A", "gene_names_refseq": "FAM104A; VCF1", "protein_names_uniprotkb": "Protein VCF1; VCP nuclear cofactor family member 1", "protein_names_refseq": "family with sequence similarity 104 member A; protein FAM104A; protein VCF1 isoform 4; protein VCF1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84923)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;24129315;25418920;25576301;26929215;26992070;27920218;28228285;28832583;29242379;30315122;31844290;32502341;33298915;33968037;35580925;36010968;37713320;37938771;9417904", "class_list": "", "function": "The FAM104 proteins VCF1/2 promote the nuclear localization of p97/VCP. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4E339", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q969W3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true } ]